Le Diko - en:associated with increased frequency of autoimmune diseases

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Le Diko - en:associated with increased frequency of autoimmune diseases

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le dictionnaire d'associations lexicales
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(id=6945158)

en:associated with increased frequency of autoimmune diseases

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:variable severity of scaling and palmoplantar keratoderma

•

en:variable age of onset (range first to third decade)

•

en:three unrelated patients have been reported (last curated december 2015)

•

en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause

•

en:see also later childhood-onset form (300718)

•

en:see also da2b (601680), which is an allelic disorder

•

en:progressive disorder

•

en:precipitating factors - ingestion of wheat gluten, rye, and/or barley

•

en:onset of symptoms in second to third decades of life

•

en:onset of ataxia between 1 and 3 years of age

•

en:onset in first months or years of life

•

en:one patient was less severely affected

•

en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014)

•

en:not all patients have all features

•

en:normal cag repeat length is 7 to 32 triplets

•

en:most common episodic ataxia syndrome

•

en:mecp2 mutations are those found in females with rett syndrome (312750)

•

en:mean age at onset of bone fractures, 24 years

•

en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder

•

en:intracellular accumulation of material can occur in neuronal and nonneuronal cells

•

en:individuals develop ability to stand and walk

•

en:hearing loss affects all frequencies

•

en:four clinically indistinguishable biochemically distinct forms

•

en:female carriers may have cardiac defects

•

en:females are most often affected, but rare male cases have been reported

•

en:families a and b had a more severe phenotype resulting in death in early childhood

•

en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype

•

en:death often occurs in childhood

•

en:death in infancy in majority of patients

•

en:both homozygous and heterozygous mutations in lrsam1 have been reported

•

en:a subset of patients have heterozygous mutations, which may predispose to disease development

•

en:autosomal recessive inheritance has been reported in 1 family (as of april 2011)

•

en:attacks triggered by catabolic stress, such as fever or illness

•

en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884)

•

en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610)

•

en:adult onset (range 45 to 70 years)

•

en:adult onset (range 15 to 53 years)

•

en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal

•

en:patient satisfaction with healthcare delivery:score:pt:^patient:qn

•

en:variable ictal semiology

•

en:variable age at onset (range childhood to adult)

•

en:two patients with point mutations in rad21 have been reported (last curated july 2012)

•

en:two families from the tamil nedu region of eastern india have been described (last curated november 2015)

•

en:three unrelated families have been reported (last curated october 2014)

•

en:significant clinical overlap with sotos syndrome (117550)

•

en:seizures are responsive to pyridoxine treatment

•

en:prevalent in arabic, turkish, armenian, and sephardic jewish populations

•

en:onset of hearing loss in childhood

•

en:onset in childhood or early adolescence

•

en:onset between ages 16-55

•

en:one six-generation family from northern china has been reported (last curated august 2015)

•

en:one family has been reported (last curated march 2014)

•

en:mutations result in inactivation of nkx3-2 (602183)

•

en:most become wheelchair-bound late in life

•

en:may be lethal in infancy

•

en:liver functions return to normal after 3 to 4 months

•

en:liver disease may be the most predominant finding

•

en:hypogonadism reported in a large swedish kindred

•

en:good response to steroid treatment

•

en:empiric risk for a sib of an affected child between 2 and 5%

•

en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features

•

en:death in infancy (1 patient)

•

en:clinical overlap with charcot-marie-tooth disease type 2c (606071)

•

en:clinical and pathologic features of both demyelinating and axonal cmt

•

en:clinically classified into classic, atypical, and intermediate phenotypes

•

en:bone anomalies may be seen on prenatal ultrasound (in some patients)

•

en:based on report of 1 family (last curated december 2012)

•

en:appear normal at birth

•

en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900)

•

en:variable duration (minutes to hours)

•

en:two patients have been reported

•

en:treatment with betaine, especially for pyridoxine nonresponders

•

en:three patients have been reported (as of august 2011)

•

en:subtype of migraine with aura

•

en:see also autosomal recessive form (255700), which is more common and more severe

•

en:reduced penetrance (approximately 54%)

•

en:rare spontaneous improvement occurs (8%)

•

en:positive response to treatment with growth hormone

•

en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism

•

en:patient b had a more severe phenotype

•

en:partial factor viii deficiency in heterozygous carriers

•

en:onset of seizures in first months of life

•

en:onset of disease 7 months to 3 years

•

en:onset in the first months of life (3 to 7 months)

•

en:onset in second or third decades

•

en:onset in infancy or early childhood (birth to 6 years)

•

en:onset in childhood (range birth to 10 years)

•

en:one patient with unrelated german parents has been reported (last curated february 2016)

•

en:night blindness from early childhood

•

en:multisystem decompensation in response to viral infection

•

en:many patients lose independent mobility after 25 years

•

en:group a patients die in the first years of life

•

en:estimated population frequency of 1 in 13,000-20,000

•

en:erythema accompanied by stinging or burning sensation in some cases

•

en:early death without bone marrow transplantation

•

en:de novo mutation in most patients

•

en:death often by age 2 years

•

en:autosomal recessive cytochrome b-negative cgd (233690)

•

en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes

•

en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:variable age at onset (range 2 to 59 years, mean 24 years)

•

en:sudden infant death may occur

•

en:secondary prevention, avoid smoking, alcohol, and oxidants

•

en:reduced life expectancy

•

en:pathogenic alleles have 19 to 33 repeats

•

en:onset as neonate

•

en:mean age of onset in third decade

•

en:many patients become wheelchair-bound by second or third decade

•

en:majority of patients die in neonatal period secondary to respiratory insufficiency

•

en:majority of cases in japan

•

en:isolated finding

•

en:incidence of 1/50,000 births

•

en:hematuria may become apparent after respiratory infections (synpharyngitic)

•

en:favorable response to bh4 therapy

•

en:dermatitis resolves in offspring after zinc supplementation and/or weaning

•

en:considered to be a manifestation of the caudal regression syndrome

•

en:can be categorized into 3 groups

•

en:autosomal recessive disorder tends to be more severe

•

en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460)

•

en:87% patients are female

•

en:citation:bib:pt:reference lab test:nar

•

en:usually fatal

•

en:two families have been reported (as of june 2011)

•

en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes

•

en:seizures are usually refractory

•

en:progressive clinical course with onset in childhood

•

en:presentation at 3-6 weeks of age

•

en:patient with truncating mutations are more likely to develop neurologic abnormalities

•

en:patients with contiguous gene deletion of 8q24 have more severe features

•

en:onset around adolescence in males

•

en:one of the most common autoimmune diseases

•

en:one large consanguineous arab muslim family has been reported (as of september 2011)

•

en:no situs inversus

•

en:left side involvement associated with serious cardiac defect

•

en:incidence of mh in anesthetized children is 1 in 15,000

•

en:favorable response to treatment with cholinesterase inhibitors or amifampridine

•

en:described in families from galicia, spain

•

en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi

•

en:both heterozygous and homozygous mutations have been reported

•

en:a wnt3 mutation has been identified in 1 affected family

•

en:average age at onset 19 years (range 5 to 38)

•

en:approximately 70-80% of cases are de novo and sporadic

•

en:allelic to leopard syndrome (151100)

•

en:adult form is asymptomatic

•

en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:usual age of onset in the 20s and 30s

•

en:seizures occur upon awakening

•

en:see entry 104300 for general information on alzheimer disease

•

en:see also leptin deficiency (614962) and summary information in bmiq1 (606641)

•

en:rare adult cases reported

•

en:prenatal onset or onset at birth

•

en:onset in neonatal period or early infancy

•

en:no recurrence of nephrotic syndrome after transplantation

•

en:lower limb weakness is presenting feature

•

en:intermediate levels of factor x in mildly symptomatic heterozygotes

•

en:genetic heterogeneity (see 125800)

•

en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364)

•

en:death usually occurs by 12 months of life

•

en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood

•

en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition

•

en:age of onset between 5 and 10 years of age

•

en:affected individuals die soon after birth due to respiratory failure

•

en:50% of females have learning disability or mild mental retardation

•

en:2% due to paternal uniparental disomy of 15q11.2-q13

•

en:worldwide incidence of 1 in 185,000 live births

•

en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540)

•

en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes

•

en:the most studied group is efe pygmies from ituri forest in northeast zaire

•

en:the characteristic changes in the spine resolve by adolescence

•

en:spontaneous resorption (rare)

•

en:some patients may present with myopathic features

•

en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises

•

en:primarily diagnosed in females

•

en:patients with meb have less severe features and longer survival

•

en:onset of gaze palsy at birth

•

en:onset of bone disease in second decade (range 18-44 years)

•

en:onset in the first few months of life patients may need lifelong total parenteral nutrition

•

en:onset 6 months to 2.5 years

•

en:one consanguineous family has been reported (last curated december 2010)

•

en:neonatal severe hyperparathyroidism in homozygotes (239200)

•

en:most patients remain ambulatory in adulthood

•

en:increased susceptibility to malignant hyperthermia

•

en:if onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (mody5)

•

en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum

•

en:hair regrowth may occur later in life

•

en:genetic heterogeneity, see ekd1 (128200)

•

en:four unrelated patients have been reported (last curated august 2015)

•

en:forty percent of patients die in the first year

•

en:death occurs before 12 months of age due to cardiorespiratory arrest

•

en:death occurs 10 to 20 years after onset

•

en:central apneic episodes may be fatal

•

en:caused by constitutive activation of the avpr2 receptor

•

en:based on report of 2 unrelated patients (last curated may 2015)

•

en:accounts for <2% of patients with alzheimer's disease

•

en:birth date:time stamp -- date and time:point in time:^patient:quantitative

•

en:wasting of the hands is the first and most prominent manifestation

•

en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs

•

en:type 3: craniosynostosis, early demise, sporadic

•

en:two unrelated families have been reported (last curated february 2016)

•

en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015)

•

en:symptoms usually last 30-60 minutes

•

en:successful treatment with oral isotretinoin

•

en:prevalence estimated at 1 in 86,000

•

en:patients have normal levels of vitamin a, beta-carotene, and zinc

•

en:onset of visual loss in childhood (around age 5 years)

•

en:most patients have no bleeding abnormalities

•

en:most common form of childhood idiopathic epilepsy

•

en:mean age at onset 48 years (range 38 to 64)

•

en:many cases are sporadic, but somatic and germline mosaicism has been reported

•

en:high frequency of de novo mutations

•

en:highly variable clinical and immunologic phenotype

•

en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134)

•

en:feet are unaffected

•

en:described in single afrikaner family

•

en:clonidine can alleviate hyperhidrosis

•

en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years

•

en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects

•

en:based on one italian family (last curated august 2015)

•

en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease)

•

en:allelic to dyggve-melchior-clausen disease (223800)

•

en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100)

•

en:age of onset 20-65 years

•

en:adult-onset (range early twenties to forties)

•

en:50% of cases are de novo

•

en:variable severity (in patients with hsan2d)

•

en:variable pattern of body involvement although symptoms may predominate in upper or lower body

•

en:variable age of onset (7-59 years)

•

en:some patients may have a milder phenotype

•

en:some patients have persistence of seizures to adulthood, but then show remission

•

en:rapidly progressive deterioration (in some patients)

•

en:prevalence in norway is 1 in 80,000

•

en:patients with the autosomal recessive disorder have a more severe phenotype

•

en:patients may or may not have dysmorphic features

•

en:oral contraceptives may also cause symptoms

•

en:onset of seizures at 2-8 days of life

•

en:onset in first decade (average 5 years)

•

en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013)

•

en:one family has been reported (as of october 2010)

•

en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015)

•

en:neuropsychiatric manifestations are variable

•

en:most affected infants die shortly after birth from respiratory failure

•

en:mean age at onset of dementia is 57 years

•

en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities

•

en:frequently fatal within the first year of life

•

en:death by age 15 months

•

en:colorectal cancer develops by fourth decade in untreated patients

•

en:carrier females are unaffected

•

en:a pair of monozygotic twins have been reported (last curated july 2015)

•

en:allelic disorder to long qt syndrome-1 (lqt1, 192500)

•

en:age at onset most often in childhood (first decade)

•

en:adult onset (before 50 years)

•

en:about 50% of mutation carriers are asymptomatic

•

en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:women may be mildly affected

•

en:variable phenotype within families ranging from woolly hair to hypotrichosis

•

en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger

•

en:solitary disease is more common in males

•

en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes

•

en:see also optic atrophy with deafness (125250), an allelic disorder

•

en:progressive cerebellar ataxia

•

en:phenotype is classically defined as aplasia cutis and transverse limb defects

•

en:patients with atypical form have milder disease, with onset in the first months of life and increased survival

•

en:onset usually at birth, but may occur later

•

en:onset of hearing loss in late childhood

•

en:onset in teens to 20's

•

en:onset between 3 and 8 months of age

•

en:onset around age 2 years

•

en:one family has been reported (last curated december 2012)

•

en:one consanguineous arab israeli family has been reported (last curated february, 2013)

•

en:one 3-generation danish family reported (last curated march 2015)

•

en:mean age at onset 5 years

•

en:many cases result from de novo mutations

•

en:life-threatening infections

•

en:inflammatory arthritis may develop in 30% of patients

•

en:infantile form has onset within first 6 months of life

•

en:increased prevalence in persons of ashkenazi jewish descent

•

en:incidence ranges from 1 in 8,500 to 1 in 12,000 births

•

en:incidence of 1 in 100,000

•

en:hair phenotype present at birth and involves entire scalp region

•

en:genetic heterogeneity (see lqt1 192500)

•

en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build

•

en:early death may occur

•

en:cells of origin are part of the diffuse neuroendocrine system (dnes)

•

en:caused by somatic mutations

•

en:cardiac arrest and sudden death may occur, even in early childhood

•

en:a mutation in the cxorf5 gene has been reported in 1 affected family

•

en:allelic to anterior segment mesenchymal dysgenesis (107250)

•

en:affected individuals have a relatively mild ichthyosis phenotype

•

en:99+% of the mutations are fgfr3, g380r (134934.0001)

•

en:variable response to acetylcholinesterase inhibitors

•

en:variable age at onset, ranging from childhood to late adulthood

•

en:two unrelated families and 1 isolated patient have been reported (last curated june 2012)

•

en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty

•

en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases)

•

en:some patients may have isolated cardiac involvement

•

en:some patients have a milder nonprogressive phenotype

•

en:some carrier females have episodes of significant hyperammonemia in infancy or childhood

•

en:slow progression

•

en:onset of end-stage renal disease 15 to 20 years after onset

•

en:onset between 3 and 6 months of age

•

en:onset 5 to 7 years

•

en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications

•

en:one family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated october 2014)

•

en:one family has been reported (last curated november 2013)

•

en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects

•

en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland)

•

en:no family history of

•

en:mother had rubella infection during pregnancy with daughter

•

en:most cases are isolated

•

en:moderate age-related improvement of pancreatic function

•

en:mild facial dysmorphism is associated with duplication of the flna gene

•

en:mean age at onset 27 years (range 9 to 42)

•

en:loss of independent ambulation due to muscle weakness in adulthood

•

en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes

•

en:incidence of 1 in 50,000 to 1 in 100,000

•

en:fat pads become less prominent with time

•

en:exercise intolerance often evident in childhood

•

en:diagnosis in early childhood

•

en:death occurs in second or third decade

•

en:contractures at birth or difficulties in the neonatal period resolve

•

en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001)

•

en:allelic disorder to parkinson disease-1 (park1, 168601)

•

en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780)

•

en:allelic disorder to autosomal dominant form (129490)

•

en:affected infants die in neonatal period

•

en:wheelchair-bound average 12 years after onset

•

en:variable expressivity, even within families

•

en:variable expression of features

•

en:symptoms begin focally, later segmental or generalized

•

en:six patients have been reported (as of july 2011)

•

en:seizures may improve with age

•

en:see also simplex eb with pyloric atresia (612138)

•

en:see also recessive deb (226600), an allelic disorder with a more severe phenotype

•

en:see also dominant deb (131750), an allelic disorder with a less severe phenotype

•

en:reduced fertility

•

en:prevalence in the finnish population of 5.8 per million

•

en:presentation between 6-18 months

•

en:onset of symptoms 2-6 years of age

•

en:onset of myoclonus later in childhood

•

en:onset of clinical features around puberty

•

en:one family with confirmed genetic basis has been reported (last curated september 2013)

•

en:motor neuropathy more prominent than sensory neuropathy

•

en:intrafamilial variability

•

en:hypersensitivity to ionizing radiation

•

en:hearing loss is congenital and nonprogressive

•

en:four patients from 3 families have been reported (last curated january 2015)

•

en:death often in childhood

•

en:death in infancy without bone marrow transplantation

•

en:a subset of patients are responsive to vitamin b12 therapy

•

en:autosomal recessive inheritance can occur

•

en:autosomal dominant with complete penetrance

•

en:association of cardiac events with exercise

•

en:associated with myoclonic epilepsy

•

en:35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis)

•

en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:see also peeling skin syndrome, acral type (609796)

•

en:prevalence of 1 in 150 to 1 in 1,000

•

en:patients may require implantable cardioverter defibrillators

•

en:onset of acute encephalopathic attacks in childhood (3 to 7 years)

•

en:onset 14 months to 4 years of age

•

en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons

•

en:one consanguineous saudi arabian family has been reported (last curated august 2014)

•

en:most patients die in first years of life

•

en:most common form of bowel obstruction in infancy

•

en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia

•

en:many patients require cardiac pacemakers

•

en:majority of patients develop symptoms within the first few weeks of life

•

en:lethal in first weeks of life

•

en:later onset may occur (1 to 11 years)

•

en:late-onset, slowly progressing form of retinitis pigmentosa

•

en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813)

•

en:four patients have been reported

•

en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype

•

en:favorable response to ursodeoxycholic acid treatment

•

en:endocrine and neurologic defects may become apparent later in life

•

en:death often in first months of life

•

en:based on report of a hispanic mother and son (last curated february 2016)

•

en:allelic disorder to cln8 (600143)

•

en:(4) thiamine-responsive form

•

en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative

•

en:variable involvement of hematologic parameters

•

en:variable age at onset (range prenatal to mid-adulthood)

•

en:usually a sporadic disorder

•

en:three families have been reported (last curated july 2013)

•

en:some patients have onset in second decade of life

•

en:phenotypic overlap with cytochrome c oxidase deficiency (220110)

•

en:patients with null mutations have neonatal onset within 72 hours of birth

•

en:patients older than 60 years have severe degenerative arthritis in the feet

•

en:onset from first to third decades of life

•

en:one family with 2 sisters have been reported (as of march 2010)

•

en:one family and 1 unrelated patient have been reported (last curated january 2011)

•

en:not responsive to steroid treatment

•

en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats

•

en:mucocutaneous immunodeficiency syndrome may be prominent

•

en:median age at diagnosis 7 years

•

en:male predominance of 3:1 to 5:1

•

en:left side involvement more frequent than right side involvement

•

en:incidence of 1 in 500,000 live births

•

en:four unrelated families have been reported (last curated february 2015)

•

en:death usually in teenage years

•

en:cardiomyopathy is not a feature

•

en:based on 2 men from 2 unrelated consanguineous iranian families

•

en:allelic to groenouw type 1 corneal dystrophy (121900), thiel-behnke corneal dystrophy (602082), lattice type 1 corneal dystrophy (122200), lattice type iiia corneal dystrophy (608471), and reis-bucklers type corneal dystrophy (608470)

•

en:two of 3 patients became wheelchair-bound

•

en:tremor may be elicited by movement or postural maintenance

•

en:tooth agenesis ranges from 1 missing tooth to marked oligodontia

•

en:three unrelated families have been reported (last curated january 2015)

•

en:short umbilical cord

•

en:secondary tumors develop within the skin lesions

•

en:risk of sudden death in childhood due to cardiac arrest

•

en:onset of lipodystrophy in early childhood

•

en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier

•

en:one patient with a de novo mutation has been reported (last curated june 2015)

•

en:no mutations reported in la reunion island patients (last curated august 2014)

•

en:more common in females (male:female ratio 4:1)

•

en:may fade with age

•

en:incidence 8/1,000 newborns

•

en:high frequency of levodopa-induced dyskinesias

•

en:genetic heterogeneity (see 613254)

•

en:fractures and dental caries and premature secondary tooth loss occur in adulthood

•

en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%)

•

en:four sibs from the old order mennonite community has been reported (last curated december 2015)

•

en:clinical improvement after 2 to 3 weeks of supportive care

•

en:cause of death usually due to respiratory failure before adulthood

•

en:based on the report of one consanguineous pakistani family (last curated august 2015)

•

en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847)

•

en:affected females have been reported

•

en:absence of premature birth, low birthweight, and exposure to oxygen

•

en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:variable age at onset (range childhood to late adult)

•

en:tremor is aggravated by low glucose or light

•

en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic)

•

en:symptoms may be precipitated by infection

•

en:slowly or non-progressive

•

en:reduced longevity

•

en:presentation after 6 months

•

en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death

•

en:prenatal or perinatal lethality in hemizygous males

•

en:predominantly occurs in young males with high rate of atopic disease

•

en:patients do not exhibit ophthalmoplegia

•

en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity)

•

en:onset of other symptoms in adolescence or early adulthood

•

en:one family has been reported (last curated november 2014)

•

en:majority of cases are male

•

en:intrafamilial variability in severity of hypothyroidism

•

en:incidence of 1 in 100,000 births in caucasians

•

en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134)

•

en:death may occur in childhood due to respiratory failure

•

en:death in childhood may occur due to end-stage renal disease

•

en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis

•

en:carrier frequency 1:200,000 in france

•

en:can also be caused by contiguous gene deletion on chromosome 22q11.2

•

en:associated with iron deficiency anemia

•

en:acute neurologic deterioration after viral illness has been reported

•

en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:age:time:pt:^patient:qn:estimated

•

en:young adult onset

•

en:wide variability in severity of limb defects

•

•

en:variably severity

•

en:variable progression rate

•

en:variable presentation and evolution of symptoms

•

en:variable phenotypic features cataloged depending on development of fetus or infant

•

en:variable clinical features

•

en:variable age of onset of renal manifestations

•

en:variable age of onset (range 4 to 47 years)

•

en:variable age at onset of arrhythmia (range 12 to 59 years)

•

en:variable age at onset (range first to third decade)

•

en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients

•

en:variable age at onset, ranging from 18 months to 27 years

•

en:variable age at onset, early childhood to adult

•

en:variable age at onset, but most often in the first 2 decades

•

en:usually sporadic

•

en:usually fatal within the first few weeks of life

•

en:usually fatal in first 2 decades

•

en:usually clinically asymptomatic

•

en:urine turns dark on standing and alkalinization

•

en:upper urinary tract usually normal

•

en:upper limb involvement in first decade

•

en:unusual cabbage-like odor

•

en:u.s. frequency higher in blacks than whites

•

en:type 2 porencephaly is usually symmetrical and results from developmental malformation

•

en:two unrelated patients with epileptic encephalopathy have been reported

•

en:two unrelated patients have been reported (last curated july 2014)

•

en:two unrelated patients have been reported (as of june 2011)

•

en:two unrelated families have been reported to have hpca mutations

•

en:two unrelated families have been reported (last curated september 2014)

•

en:two subtypes noninflammatory type a and inflammatory type b

•

en:two japanese brothers have been reported (as of september 2011)

•

en:tumors may show spontaneous regression

•

en:tremor is aggravated by emotional stress

•

en:treatment with vitamin d and phosphate is effective

•

en:treatment with sulfonylurea can be effective

•

en:treatment with oral coenzyme q may ameliorate symptoms

•

en:three unrelated probands have been reported (last curated january 2016)

•

en:three unrelated patients have been reported (last curated september 2014)

•

en:three unrelated patients have been reported (last curated may 2015)

•

en:three types of cystinosis are recognized

•

en:three patients have been reported (as of november 2010)

•

en:three patients from 1 mexican family has been reported (last curated april 2013)

•

en:three families have been reported (last curated november 2010)

•

en:therapy-induced dyskinesias

•

en:systemic amyloid deposition may occur

•

en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940)

•

en:symptoms remain focal

•

en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972)

•

en:symptoms are not relieved by alcohol

•

en:symptoms ameliorate with age

•

en:swelling starts to fade by age 30 years and gradually becomes unremarkable

•

en:surviving males are postzygotic mosaic for ebp mutations

•

en:survival greater than one year rare

•

en:subset of patients have leigh syndrome (256000)

•

en:spontaneous resolution of seizures by 12 months of age

•

en:spinal tumors are necessary for diagnosis

•

en:some pedigrees are consistent with autosomal dominant inheritance

•

en:some patients may not achieve walking

•

en:some patients may have normal brain imaging

•

en:some patients may be asymptomatic

•

en:some patients have only ocular involvement or only oral involvement

•

en:some patients have no manifestations

•

en:some patients have a secreted but biologically inactive mutant leptin

•

en:some patients have a contiguous gene syndrome due to loss of adjacent genes (sts, 308100 and kal1, 300836) on xp22.3 via deletions and translocations

•

en:some patients carry heterozygous mutations

•

en:some patients can be treated with large doses of vitamin d and calcium

•

en:some mutation carriers have mild features of frontonasal dysplasia (613451)

•

en:smaller repeat lengths in younger generations (reverse anticipation)

•

en:skin abnormalities tend to decrease with age

•

en:skewed x-inactivation in carriers

•

en:single umbilical artery

•

en:similar phenotype to x-linked hypophosphatemia (xlh, 307800)

•

en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay

•

en:sex ratio of 4-4.5 males to 1 female

•

en:several forms of autosomal recessive spastic paraplegia (see 270800)

•

en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300)

•

en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870)

•

en:see also distal hmn2a (158590)

•

en:see also benign familial infantile convulsions (bfic1, 601764)

•

en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene

•

en:see 123000 for an autosomal dominant form due to mutation in ankh (605145)

•

en:rickets and premature primary tooth loss occur in childhood

•

en:results in severe motor disability and loss of independent ambulation

•

en:resembles intrauterine torch infection but without intrauterine infection

•

en:reported in individuals of jewish moroccan ancestry

•

en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy

•

en:rapidly progressive episodes

•

en:rapidly progressive

•

en:progressive disorder regarding both neurologic and renal symptoms

•

en:prevalent in newfoundland

•

en:prevalence of true hypoprothrombinemia is 1 in 2 million

•

en:prevalence of sleep terrors about 3% in children

•

en:prevalence in sardinia is 1 in 14,000

•

en:prenatal onset or onset in infancy

•

en:predominantly occurs in young males with a high rate of atopic disease

•

en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol

•

en:poor response to l-dopa

•

en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400)

•

en:phenotypically indistinguishable from hemophilia a (306700)

•

en:periventricular heterotopia (300049) is an allelic disorder

•

en:perinatal death

•

en:penetrance 86% by 50 years of age

•

en:patients with residual enzyme activity have childhood or adult onset

•

en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene

•

en:patients often become wheelchair-bound

•

en:patients look as if they have protein deficiency or malnutrition

•

en:paternal anticipation bias

•

en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420)

•

en:overlapping clinical spectrum and allelic to masa syndrome (303350)

•

en:other variants of waardenburg syndrome include waardenburg syndrome type 1 (193500), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580)

•

en:original phenotype description based on patients from la reunion island in the indian ocean off the east coast of africa where the incidence is 1/1,500 births

•

en:onset within first 2 years

•

en:onset usually in first or second decades

•

en:onset usually in early adolescence

•

en:onset usually in childhood after bcg vaccination

•

en:onset usually in childhood (range 6 months to 16 years)

•

en:onset usually in adulthood

•

en:onset of visual loss in the first decade

•

en:onset of symptoms in second or third decade (mean 25 years)

•

en:onset of symptoms in first decade of life

•

en:onset of spastic paraplegia in first year of life

•

en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade

•

en:onset of insulin resistance may occur in childhood

•

en:onset of fractures in infancy to early childhood

•

en:onset of diabetes in teenage years

•

en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin

•

en:onset late childhood

•

en:onset in the first 2 years of life

•

en:onset in middle age (44 to 60 years)

•

en:onset in late childhood (after age 10 years)

•

en:onset in fourth to sixth decades

•

en:onset in first 2 decades of life

•

en:onset between the second and sixth decades

•

en:onset between ages 12 and 20 years

•

en:onset between 7 and 27 years of age

•

en:onset between 6 and 15 years

•

en:onset between 5 and 20 years

•

en:onset between 2-5 years

•

en:onset between 12 and 30 years (average 22)

•

en:onset before age 20 years

•

en:onset before 18 months of age

•

en:onset at or soon after birth

•

en:onset around puberty

•

en:onset 30-40 years of age

•

en:only apparent in patients taking eculizumab

•

en:one spanish family has been reported (last curated august 2014)

•

en:one patient has been described (last curated january 2016)

•

en:one pakistani family has been reported (last curated september 2013)

•

en:one italian family has been reported (last curated july 2012)

•

en:one family of irish traveller descent described (last curated september 2013)

•

en:one family has been reported (last curated march 2015)

•

en:one consanguineous pakistani family has been reported (last curated november 2014)

•

en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015)

•

en:one consanguineous family has been reported (last curated march 2015)

•

en:one consanguineous algerian family has been reported (last curated august 2014)

•

en:occurs in 1 in 50,000 newborn males

•

en:nystagmus may disappear by mid-childhood

•

en:no predisposition to skin tumor development

•

en:no phenotypic manifestations

•

en:no extraocular findings

•

en:no consistent dysmorphic facial phenotype

•

en:normal range of expanded repeats 9-29, hd range 36-121

•

en:normal alleles have 25 to 44 repeats

•

en:nonreflex epilepsy may occur later in 16 to 38% of patients

•

•

en:neurologic symptoms may develop decades later

•

en:neonatal death secondary to pulmonary insufficiency

•

en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses)

•

en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees

•

en:multiple congenital anomalies

•

en:most patients retain ambulation with aids

•

en:most patients present in infancy with anemia

•

en:most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less)

•

en:most patients are female

•

en:most mutations occur de novo

•

en:most have onset in first or second decade

•

en:more frequent in males

•

en:more frequent in females

•

en:median age at onset 23 years

•

en:mean survival 5 months

•

en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported

•

en:mean age of diagnosis of renal cell carcinoma is 46 years

•

en:mean age at termination 3 to 4 years

•

en:mean age at onset 41 years (range 18 to 61)

•

en:many patients become wheelchair-bound

•

en:malnutrition can be severe, requiring total parenteral nutrition

•

en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces

•

en:major fetal plasma protein produced by yolk sac and liver

•

en:majority of affected individuals are female (85%)

•

en:majority cases are sporadic

•

en:loss of independent walking by teenage years (in some)

•

en:liver failure episodes cease in later childhood

•

en:liver enzymes decrease with age

•

en:lifetime risk of breast cancer in mutation carriers is 80 to 90%

•

en:life-threatening in infancy due to sepsis

•

en:lesions apparent at birth

•

en:later onset of optic atrophy (mean 19 years, range 5 to 50 years)

•

en:later onset in adolescence has rarely been reported

•

en:lack of treatment results in early death

•

en:ketogenic diet may be effective

•

en:keratitis-ichthyosis-deafness syndrome

•

en:intermittent exacerbations

•

en:intelligence is normal

•

•

en:increased tendency to chromosomal nondisjunction

•

en:incomplete penetrance of optic atrophy

•

en:incidence of 1 in 39,000

•

en:incidence of 1 in 3,500 boys

•

en:incidence of 1 in 25,000 livebirths

•

en:incidence of 1 in 120,000 live births

•

en:incidence in finland is 1 in 76,000 births

•

en:impaired healing

•

en:high recurrence rate

•

en:high frequency in equatorial africa

•

en:highly variable phenotype and severity, even within families

•

en:highly variable expressivity within families

•

en:highly variable age at onset (range childhood to late adult)

•

en:heterozygous mutation carriers may have late-onset of mild symptoms

•

en:heterozygous females may have situs inversus or other midline defects

•

en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals

•

en:genetic heterogeneity (see rmd1, 600332)

•

en:genetic heterogeneity (see rls2, 608831)

•

en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516)

•

en:generally considered to be a benign disorder

•

en:gait difficulties and beginning of cognitive decline in first decade

•

en:frequency of infections decreases after 3 years of age

•

en:frequency increases with advancing age

•

en:fractures often heal without deformity

•

en:four unrelated families have been reported (last curated september 2015)

•

en:for similar autosomal dominant form, see 162350

•

en:five unrelated cases have been reported (as of march 2012)

•

en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016)

•

en:female to male ratio ranges from 2:1 to 4:1

•

en:female carriers may have subtle manifestations

•

en:female carriers may have mild mental retardation

•

en:feeding difficulties in infancy

•

en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580)

•

en:favorable response to bh4

•

en:favorable response to antiepileptic medication

•

en:favorable response to alcohol in about 50%

•

en:favorable response of seizures to a ketogenic diet

•

en:family c had a milder phenotype with survival into adulthood

•

en:extreme variability in severity of features

•

en:exacerbation following stress, decreased food intake, or alcohol use

•

en:exacerbated by stress

•

en:episodes occur 30 minutes to 3 hours after exposure to cold

•

en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat

•

en:epilepsy with grand mal seizures on awakening (egma, 607628)

•

en:elevated body temperatures to 42 degrees celsius

•

en:early onset of symptoms

•

en:dystonia is usually focal or segmental

•

en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis

•

en:distinct from pili annulati (180600)

•

en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline

•

en:disease steadily progressive

•

en:discordant phenotype among monozygotic twins has been reported

•

en:die at birth or shortly after birth

•

en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322)

•

en:defect in urocanic acid conversion to formiminoglutamic acid (figlu)

•

en:death within first year of life

•

en:death within first decade

•

en:death usually occurs by age 2 years

•

en:death secondary to respiratory infection or failure before age 2 years

•

en:death in untreated children

•

en:death in childhood may occur

•

en:deafness tends to occur before other neurologic signs, except in patients with very early onset

•

en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above)

•

en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies

•

en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases

•

en:corrected by bone marrow transplantation

•

en:contiguous gene deletion syndrome at chromosome 6p

•

en:congenital or early onset hearing loss

•

en:conduction defect is progressive

•

en:complete manifestation in males

•

en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle

•

en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome

•

en:clonazepam and diazepam may be effective in preventing or lessening severity

•

en:clinical variability seen in waardenburg syndrome type 1

•

en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369)

•

en:chronic disease

•

en:childhood onset has been reported in 1 family

•

en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities)

•

en:cataracts are progressive but may vary between eyes of an individual

•

en:carrier females show no phenotypic abnormalities, but may have learning difficulties

•

en:cardiomyopathy may develop later in the disease

•

en:candidiasis is usually the first symptom

•

en:breech presentation

•

en:both autosomal dominant and recessive inheritance can occur

•

en:bone changes tend to develop after first decade

•

en:birth rate of 7.6 per 1,000,000

•

en:begins as focal dystonia, later becomes segmental or generalized

•

en:based on one report of brother and sister

•

en:based on one report of 3 consanguineous pakistani families (last curated august 2015)

•

en:based on four patients in a four generation family

•

en:based on 2 patients with p4hb mutations (last curated april 2015)

•

en:based on 1 reported patient (last curated november 2013)

•

en:based on 1 large swiss german kindred (last curated august 2015)

•

en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3

•

en:average age at onset 38 years

•

en:average age at diagnosis 17.8 years (range 2-35 years)

•

en:autosomal recessive omodysplasia has also been described (258315)

•

en:attacks often drug-induced

•

en:associated with tuberous sclerosis (191100)

•

en:associated specifically with the gba d409h mutation (606463.0006)

•

en:approximately half of the mutations are de novo

•

en:approximately 50% of patients have situs inversus

•

en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient

•

en:ambulation is usually maintained during adulthood

•

en:all reported cases have resulted from de novo mutations

•

en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820)

•

en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200)

•

en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650)

•

en:allelic to multiple pterygium syndrome, lethal type (253290)

•

en:allelic to kenny-caffey syndrome type 1 (244460)

•

en:allelic to early-onset familial alzheimer disease (ad1, 104300)

•

en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972)

•

en:allelic to dentin dysplasia, type 2 (125420)

•

en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900)

•

en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543)

•

en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500)

•

en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041)

•

en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement

•

en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and yellow nail and lymphedema syndrome (153300)

•

en:alcohol may alleviate symptoms

•

en:age of onset 17 to 68 years (mean 39)

•

en:affects up to 10% of the population

•

en:affected males are somatic mosaic for mutations

•

en:affected individuals may have learning or behavioral problems during the period when seizures occur

•

en:adult onset of neurologic symptoms has been reported in 1 family

•

en:adult onset may occur

•

en:adult onset has been reported (age 50 years)

•

en:adult onset form usually presents with psychiatric manifestations

•

en:acute attacks rarely occur before puberty

•

en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes

•

en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation'

•

en:about 10% of patients have a severe early onset in the first months of life

•

en:abnormal morphogenesis of first and second branchial arches

•

en:25% due to mutations in ube3a (601623)

•

en:21% of hereditary wilms tumor are bilateral

•

en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide

•

en:(3) adult nonnephropathic (219750)

•

en:'second wind' phenomenon

•

en:communication board, non-electronic augmentative or alternative communication device

•

en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative

•

en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative

•

en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative

•

en:waddling gait, often presenting sign in second year

•

en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism

•

en:variable severity (mild symptoms to severe handicap)

•

en:variable phenotype within and between oi5 families

•

en:variable dysmorphic features

•

en:variable distribution, may be focal, segmental, multifocal, or generalized

•

en:variable clinical severity

•

en:variable age of onset (range 13 to 67 years, median 48 years)

•

en:variable age of onset (childhood to young adulthood)

•

en:variable age at onset (range teens to late adult)

•

en:variable age at onset (range 14 to 50 years)

•

en:variability in age of onset and severity of disease

•

en:usually sporadic disorder resulting from de novo 22q11.2 deletion

•

en:usually occurs in children younger than 5 years

•

en:usually asymptomatic

•

en:up to 60% of female mutation carriers develop lobular breast cancer

•

en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance

•

en:type 2cb is characterized by defective binding affinity for collagen types i and iii

•

en:two unrelated patients have been reported (last curated august 2013)

•

en:two unrelated families have been reported (last curated september 2015)

•

en:two unrelated families have been reported (last curated november 2012)

•

en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells

•

en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout

•

en:two forms: iia (severe) and iib (mild)

•

en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form

•

en:treatment with dichloroacetate (dca) prolongs survival

•

en:treatment with bh4 is effective

•

en:trauma may accelerate symptoms

•

en:trauma, anxiety, and/or stress can precipitate or aggravate edema

•

en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult

•

en:three unrelated families have been reported (last curated september 2015)

•

en:three unrelated caucasian patients have been reported (as of january 2012)

•

en:three times more common in males

•

en:three families have been reported (as of december 2011)

•

en:three amish patients have been reported (as of february 2012)

•

en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support

•

en:symptoms vary according to location of tumor

•

en:symptoms relieved by serotonin antagonist (in some patients)

•

en:survival to 20s-60s in iib

•

en:stillborn or lethal in the neonatal period

•

en:sporadic cases often single lesions versus multiple lesions in familial cases

•

en:spontaneous reversal of gnrh deficiency may occur in some patients

•

en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14

•

en:some patients with advanced loss of vision have normal eog

•

en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic

•

en:some patients may benefit from coenzyme q10 treatment

•

en:some patients become bedridden

•

en:some carrier females have mild features

•

en:slowly progressive or nonprogressive course

•

en:slowly progressive disease

•

en:skin wrinkling improves with age

•

en:skin lesions exacerbated by heat, exercise (sweating), and sunlight

•

en:skin lesions are fully penetrant by second decade

•

en:skin changes have onset in childhood

•

en:short survival (less than 10 years after onset)

•

en:severity of phenotype may vary with x-inactivation patterns and/or mutation type

•

en:seizures easily controlled by medications

•

en:see also x-linked (310400) and autosomal dominant (160150) forms

•

en:see also griscelli syndrome, type 1 (214450) for a similar disorder with characteristic neurologic disease and griscelli syndrome, type 2 (607624) for a similar disorder with characteristic immunodeficiency/hemophagocytic syndrome.

•

en:see also dyggve-melchior-clausen disease (223800)

•

en:see also autosomal recessive robinow syndrome (268310)

•

en:seen more frequently in infants of diabetic mothers

•

en:risk of sudden death due to cardiac defects

•

en:risk of affected offspring in paternal translocation carrier - 0-7%

•

en:retinal hemorrhages usually resolve without sequelae

•

en:respiratory distress may be precipitated by viral respiratory infection

•

en:ratio female to male, 19:10 in index family

•

en:ptosis is usually presenting feature

•

en:prevalent in bulgarian gypsies

•

en:prevalence of 1 in 6,000 to 1 in 10,000

•

en:prevalence of 1 in 40,000 to 1 in 80,000

•

en:prevalence of 1 in 1,500

•

en:prevalence approximately 1 in 4,000 males

•

en:presents with 4 types of painful episodes - (1) birth crisis, babies are born red and stiff (2) rectal crisis, triggered by defecation or emotional factors (3) ocular crisis (4) mandibular crisis, triggered by eating or yawning

•

en:presents at a later stage than sporadic wilms tumor

•

en:premature aging syndrome

•

en:polyps occur in teens

•

en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150)

•

en:phenotypic overlap with desbuquois dysplasia (251450)

•

en:phenotypically mild form of joubert syndrome

•

en:peripheral neuropathy occurs in adulthood

•

en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers

•

en:patients younger than 30 years complain only that they cannot run fast

•

en:patients with mutation in the nhlrc1 gene have slightly longer survival

•

en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene

•

en:patients with longer disease duration show motor neuron involvement

•

en:patients of brazilian origin have a pure cerebellar atrophy

•

en:patients need support with walking or are wheelchair-bound

•

en:patients may show normal development

•

en:patients are often misdiagnosed with spherocytosis

•

en:pathogenic alleles contain 52 to 86 repeats

•

en:partial laminin alpha-2 deficiency results in milder phenotype

•

en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440)

•

en:ossification evident 2-8 months following swelling

•

en:onset usually in second decade

•

en:onset of symptoms in second to fifth decades of life

•

en:onset of seizures ranges from 2 to 11 years

•

en:onset of parkinsonism in early twenties

•

en:onset of macrocephaly in the first year of life

•

en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade

•

en:onset of fractures 4-18 months of life

•

en:onset in the 3rd decade of life or later

•

en:onset in mid-forties

•

en:onset in late adulthood

•

en:onset in infancy or first years of life

•

en:onset in infancy or childhood (range 1 to 6 years)

•

en:onset in infancy (3 months on)

•

en:onset in infancy, but may not be diagnosed until later in mild cases

•

en:onset in first decade (birth to 6 years)

•

en:onset in first decade

•

en:onset in females ranges from third to seventh decade

•

en:onset in childhood or adolescence

•

en:onset in childhood (range 4 to 12 years)

•

en:onset between 34 and 51 years of age

•

en:onset before 10 years of age in all patients

•

en:onset and diagnosis may occur later (after age 20 years)

•

en:onset 7 to 15 months of age

•

en:onset 13 to 63 years of age

•

en:one report of brother and sister from nonconsanguineous parents

•

en:one patient with limited clinical information has been reported (last curated october 2014)

•

en:one patient with a homozygous mutation has been reported (as of 14 june 2011)

•

en:one patient showed improvement and was thriving at 46 months of age

•

en:one patient has been reported (last curated november 2014)

•

en:one patient has been reported (as of may 2011)

•

en:one patient has been reported (as of july 2010)

•

en:one patient has been reported (as of august 2010)

•

en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation.

•

en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012)

•

en:one family of puerto rican descent has been reported (last curated january 2015)

•

en:one consanguineous turkish family has been reported (last curated july 2014)

•

en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013)

•

en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015)

•

en:one consanguineous costa rican family has been reported (last curated march 2015)

•

en:one 5-generation chinese family reported (last curated november 2014)

•

en:one-third of cases are familial

•

en:older individuals had moderate to severe hearing loss

•

en:occurs in the absence of trauma

•

en:number of episodes varies from 1 to many (up to 20)

•

en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene

•

en:no male-to-male transmission

•

en:no family history, de novo mutations

•

en:no clinical manifestations were noted (incidental laboratory finding)

•

en:normal first month

•

en:normal female secondary sexual characteristics

•

en:normal alleles contain up to 30 repeats

•

en:nonprogressive or slowly progressive

•

en:neurologic features occur later in childhood

•

en:nearly 100% penetrance by 60 years of age

•

en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011)

•

en:most patients die in the first days of life

•

en:most patients die in infancy

•

en:most have resolution of symptoms between 6 and 12 months

•

en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported

•

en:mosaic distribution of lesions

•

en:metabolic encephalomyopathic crises often triggered by infection

•

en:melnick-needles syndrome (mns, 309350) is an allelic disorder

•

en:median age of onset of leukoplakia - 7 years (range 1-26 years)

•

en:mean age of onset 56 years

•

en:mean age of diagnosis is 40 years (range 11 to 79 years)

•

en:mean age at onset 32 years

•

en:may be exacerbated by febrile illness

•

en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother

•

en:massive aortic aneurysm can cause airway compression in affected infants

•

en:marked variability in the deletion size

•

en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders

•

en:madelung deformity more frequent and more severe in females

•

en:liver size returns to normal after 3 months to 3 years

•

en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20%

•

en:late infantile form has onset between 19 months and 4 years

•

en:juvenile onset 4 years to puberty

•

en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns

•

en:intrafamilial variability in degree of nail involvement

•

en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia)

•

en:increased susceptibility to multiple carcinomas

•

en:incidence in japan is 1 in 57,000

•

en:incidence approximately 2-3/10,000 newborns

•

en:incidence 1 in 6,000 to 1 in 8,000 live births

•

en:incidence 1 in 20,000

•

en:incidence 1/20,000-1/64,000 male births

•

en:immunosuppressive therapy may be beneficial

•

en:hypothyroidism is less severe in individuals with high dietary iodine intake

•

en:high prevalence in the east asian population

•

en:high incidence among old order amish

•

en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')

•

en:highly variable age at onset (range 9 to 69 years)

•

en:heterozygous females may have gout and/or sensorineural deafness

•

en:hepatic failure develops in first months of life

•

en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma)

•

en:great variation in extent of hypertrophy in mutation-positive individuals

•

en:good response to clonazepam

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6945158 • caches: c1=8 c2=1003 c3=1

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