Le Diko - en:(3) adult nonnephropathic (219750)

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Le Diko - en:(3) adult nonnephropathic (219750)

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le dictionnaire d'associations lexicales
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en:(3) adult nonnephropathic (219750)

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

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

•

en:many become wheelchair bound

•

en:see also autosomal recessive form (612304)

•

en:risk of sudden death due to cardiac defects

•

en:relapsing-remitting course

•

en:prevalence of 1 in 70,000

•

en:poor response to g-csf treatment

•

en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder

•

en:onset in first decade

•

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

•

en:mutation found in 1 puerto rican family (last curated august 2014)

•

en:more common in males

•

en:mild asymmetric regional disease (e.g. 180380.0029)

•

en:males are most severely affected, but females can also be affected

•

en:sib a developed symptoms after routine mmr vaccination

•

en:majority of patients have normal intelligence

•

en:highly variable phenotype, even within families

•

en:genetic heterogeneity (see cmt4b1, 601382)

•

en:genetic heterogeneity (see cmt2b2, 605589)

•

en:features intermediate between demyelinating cmt and axonal cmt

•

en:earliest age of onset 12 years of age

•

en:death within first year of life in 25%

•

en:death usually occurs by 12 months of life

•

en:death by age 5 (infantile form)

•

en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634)

•

en:two families have been reported (september 2010)

•

en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features

•

en:most patients are from finland

•

en:some individuals may be clinically asymptomatic

•

en:incomplete penetrance (50%)

•

en:some patients with heterozygous mutations may be symptomatic

•

en:two families of canadian origin have been reported (last curated may 2012)

•

en:patients often require implantation of a pacemaker

•

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

•

en:onset of hearing loss in childhood (range 7 to 13 years)

•

en:onset between 3 and 6 months of age

•

en:non-progressive and more severe progressive forms

•

en:more frequent in females

•

en:mean age at onset for variant cjd is 29 years (before age 45 years)

•

en:may fade with age

•

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

•

en:isolated cases

•

en:rapidly progressive (6-24 months)

•

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

•

en:age of onset, 6-20 years

•

en:episodes typically last 2 to 5 minutes and occur daily or several times per month

•

en:very slow progression

•

en:figure associated with report or note:-:point in time:^patient:-

•

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

•

en:two mother and child pairs have been reported (last curated july 2015)

•

en:allelic to cartilage-hair hypoplasia (250250)

•

en:cataracts variably present at birth

•

en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate

•

en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015)

•

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

•

en:onset of symptoms in fifth decade

•

en:one family reported (last curated june 2009)

•

en:onset of bleeding in infancy or early childhood

•

en:onset of malignancy can occur throughout life

•

en:age at onset 15 to 33 years

•

en:2:1 female preponderance

•

en:some patients report increased tolerance to heat

•

en:symptoms are often responsive to alcohol

•

en:about half of individuals are asymptomatic and identified by newborn screening programs

•

en:acral hemorrhagic variant

•

en:kid syndrome and hid syndrome are identical at the molecular level

•

en:majority of cases in japan

•

en:antibodies can develop after pregnancy or transfusion

•

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

•

•

en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014)

•

en:based on report of 2 affected brothers in 1 family (last curated october 2015)

•

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

•

en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460)

•

en:allelic to hand osteoarthritis (607850)

•

en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100)

•

en:7 unrelated patients have been reported

•

en:2-3% due to imprinting defects

•

en:time of analysis:tmstp:pt:xxx:qn

•

en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610)

•

en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900)

•

en:does not result in renal failure

•

en:average onset 6-10 months (range 3-24)

•

en:onset in teens has been reported

•

en:based on one 4-generation italian family (last curated august 2015)

•

en:some patients become wheelchair-bound

•

en:skin abnormalities tend to decrease with age

•

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

•

en:recurrent bacterial infections beginning in childhood

•

en:rash, edema, and arthralgia may occur during crisis

•

en:prevalence of 1 in 10,000 african-americans

•

en:patients often nonambulatory by the mid-twenties

•

en:patients may have a combination phenotype of pmc and hypp (see 603967.0005)

•

en:onset precipitated by fasting or illness

•

en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus

•

en:onset in teens to late twenties (range 14 to 44 years)

•

en:three main clinical forms

•

en:one patient with episodic ataxia and later onset has been reported (as of june 2010)

•

en:facial dysmorphism is age-related and alters substantially over time

•

en:one family with 4 affected sibs has been reported (as of april 2012)

•

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

•

en:death in utero or in the perinatal period

•

en:death usually in the first 2 years of life

•

en:carrier frequency in finland is 1 in 230

•

en:founder effect in irish traveler population

•

en:incidence 8/1,000 newborns

•

en:mean age of onset 31 years (range 5-60)

•

en:more common in men (9:1 male:female ratio)

•

en:most patients are severely affected

•

en:genetic heterogeneity (see feb1 121210)

•

en:positive family history in 12-33% patients

•

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

•

en:onset between 18 and 65 years

•

en:onset in infancy (first year of life)

•

en:two pakistani families have been reported (last curated december 2012)

•

en:similar clinical phenotype to edsiii (130020)

•

en:some patients may develop interictal progressive ataxia

•

en:two unrelated patients have been reported (last curated january 2015)

•

en:usually lethal in the neonatal period

•

en:variable presentation

•

en:normal sclerae and teeth

•

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

•

en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131)

•

en:normal development before onset of seizures

•

en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules

•

en:increased susceptibility to infections

•

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

•

en:hearing loss was diagnosed between 3 months to 1 year of age

•

en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014)

•

en:favorable response to antibodies against tnf-alpha (tnfa, 191160)

•

en:exacerbation of symptoms during or after pregnancy

•

en:autosomal recessive inheritance with earlier onset has been suggested

•

en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487)

•

en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:age:time:pt:^egg donor:qn

•

en:approximately 60% of cases are due to somatic mutations and are unilateral

•

en:all reported cases have occurred sporadically

•

en:allelic disorder to ifap syndrome (308205)

•

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

•

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

•

en:chromosomal hypersensitivity to ionizing radiation and alkylating agents

•

en:x-linked inheritance could not be ruled out

•

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

•

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

•

en:this patient died at age 2 years

•

en:prenatal onset or onset in infancy

•

en:precipitation by pregnancy

•

en:periodontium is less severely affected than in papillon-lefevre syndrome

•

en:onset of optic atrophy in childhood

•

en:onset in infancy (3 to 7 months)

•

en:onset day of life 1-10 in infants fed lactose-containing milk

•

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

•

en:phenotypic overlap with denys-drash syndrome (194080).

•

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

•

en:increased tendency to chromosomal nondisjunction

•

en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066)

•

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

•

en:four major groups: early infantile, late infantile, juvenile, adult

•

en:good seizure control with medication

•

en:hearing loss is nonprogressive

•

en:increased frequency in finland (incidence 1:60,000 finnish newborns)

•

en:inflammatory bowel disease may develop in childhood or adolescence

•

en:majority of children die before age 2

•

en:median age of onset of pigmentation - 8 years (range 1-15 years)

•

en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations

•

en:most common inherited ataxia

•

en:some patients become wheelchair-bound in second decade

•

en:onset in infancy and early childhood

•

en:onset of renal failure in adulthood (range twenties to fifties)

•

en:onset of spasticity in childhood

•

en:patients develop multiple tumors

•

en:precipitated by fever

•

en:women affected more than men (3:2)

•

en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects

•

en:variable age at onset, mostly in third decade (range teenage years to fourth decade)

•

en:variable penetrance

•

en:variable severity, even within families

•

en:visual acuity better than anticipated from ophthalmoscopic appearance

•

en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:onset first to seventh decade with 30 to 40 year mode

•

en:onset in early childhood (2-4 years)

•

en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:nails appear normal at birth, with dystrophic changes developing within the first decade of life

•

en:majority of cases are male

•

en:later onset of ophthalmoparesis

•

en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26)

•

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

•

en:highly penetrant, but low morbidity

•

en:allelic to deafness, neurosensory, autosomal recessive 18 (602092)

•

en:affected females have been reported

•

en:adult onset has been rarely reported

•

en:adult onset - 100-1,000 repeats

•

en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis

•

en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease)

•

en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:age at diagnosis 24 +/- 18 years for dominant disease

•

en:adult onset (18 to 60 years)

•

en:increased risk of early death

•

en:aggressive malignancies

•

en:onset of spastic paraplegia in first year of life

•

en:diurnal fluctuation, more apparent in earlier years, later subsides

•

en:type i has most severe manifestations by age 4-5 years

•

en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750)

•

en:three affected sibs have been reported

•

en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset

•

en:some patients show onset later in childhood

•

en:some features are variable, even within families

•

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

•

en:recurrent bacterial, viral, and fungal infections

•

en:prevalence of 1 in 28,000 caucasians

•

en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency

•

en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt

•

en:other muscle become involved about 5 years after onset

•

en:onset usually in young adulthood

•

en:reported in individuals of jewish moroccan ancestry

•

en:onset in childhood (6-7 years)

•

en:variable age at onset (range childhood to mid-sixties)

•

en:estimated incidence of 1 in 17,000

•

en:onset in childhood, but most noticeable in mid-teens and early adulthood

•

en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964)

•

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

•

en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported

•

en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities

•

en:increased prevalence in individuals of jewish-iraqi origin

•

en:majority are sporadic cases, affected sibs have been described

•

en:males more frequently have severe lesions

•

en:may occur cormorbidly with poland syndrome (173800)

•

en:occurs more frequently in females

•

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

•

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

•

en:patients often require cardiac transplantation

•

en:high frequency hearing loss progresses to include all frequencies

•

en:high prevalence in holguin province of cuba

•

en:onset in adolescence or young adulthood has been reported

•

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

•

en:pain in lower limb

•

en:type 1 porencephaly is usually unilateral and results from destructive lesions

•

en:phenotypic overlap with frontotemporal dementia (600274)

•

en:prevalence in poland is 1 in 129,000

•

en:profound dementia and death usually occurs by age 50 years

•

en:progressive deafness

•

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

•

en:slowly progressive disease

•

en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015)

•

en:female mutation carriers are less severely affected than male mutation carriers

•

en:fishy body odor

•

en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:expression more severe in females than males, except for mosaic males

•

en:based on 1 report of monozygotic twins (last curated may 2014)

•

en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:variable age of onset (range early childhood to adult)

•

en:age of onset between 6 and 45 years of age

•

en:age of onset varies from 5-32 years of age

•

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

•

en:alpha thalassemia-mental retardation syndrome

•

en:based on the report of one lebanese family (last curated october 2014)

•

en:early-onset severe renal disease

•

en:brainstem, cerebellum, anterior inner rim of the corpus callosum, posterior limb of the internal capsule and the external capsule, and anterior inner rim of the corpus callosum may show disease involvement on mri

•

en:childhood or adolescent onset, protracted, with myopathy and neuropathy

•

en:death before age 3 years

•

en:disability by end of first decade

•

en:dramatic improvement with proper treatment

•

en:dysarthria, dysphonia, or cough precede onset of ataxia

•

en:variable age at onset (8 to 62 years)

•

en:contractures most severe by midadolescence

•

en:visual symptoms present by late childhood

•

en:see also optic atrophy 1 (165500), an allelic disorder without deafness

•

en:onset of lesions may occur in early childhood or as late as the seventh decade

•

en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms

•

en:polyhydramnios

•

en:prevalence in norway is 1 in 80,000

•

en:prevalence much higher in whites than blacks

•

en:see also autosomal dominant form (160800), which is less common and less severe

•

en:somatic mosaicism has been observed in some patients

•

en:one family with 3 affected girls has been reported (as of october 2011)

•

en:some patients have an attenuated phenotype

•

en:some pedigrees are consistent with autosomal dominant inheritance

•

en:two sibs died before 2 years of age

•

en:unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation

•

en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci

•

en:women may be mildly affected

•

en:onset in early to late childhood

•

en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant

•

en:neurologic features occur in adulthood

•

en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400

•

en:linked to 10q24 trisomy

•

en:accounts for approximately 5% of the epilepsies

•

en:all cases due to de novo mutation (last curated february 2014)

•

en:all cases presumed de novo mutation

•

en:autosomal recessive inheritance with earlier onset has been reported in 3 patients

•

en:can be asymptomatic

•

en:autosomal recessive form (240220)

•

en:complementation group b (represented by single atypical patient)

•

en:highly variable intrafamilial severity

•

en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400)

•

en:diabetes diagnosed in second or third decade of life

•

en:incidence of 1 in 300,000

•

en:intrafamilial variation

•

en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood

•

en:female carriers may be less severely affected

•

en:males carry mutations in the somatic mosaic state

•

en:other variants of waardenburg syndrome include waardenburg syndrome type 2 (193510), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580)

•

en:onset of tremor usually before onset of seizures

•

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

•

en:onset of lipodystrophy later in childhood

•

en:onset in infancy or early childhood (before age 3 years)

•

en:onset between 13 to 37 years

•

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

•

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

•

en:one family (4 affected members) has been reported (last curated july 2012)

•

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

•

en:mean age at onset 32 years

•

en:based on 2 reports of 3 patients (last curated september 2012)

•

en:increased risk of developing multiple primary cancers

•

en:immunosuppressive therapy may be beneficial

•

en:following fever in infancy, muscular weakness and poor growth

•

en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only

•

en:carrier frequency in finland 1/40

•

en:carrier females may present with postpartum hyperammonemia

•

en:based on 2 siblings in a consanguineous family (last curated august 2015)

•

en:autoimmune manifestations are present in some patients

•

en:75% of affected individuals are female

•

en:20% die before age one (usually secondary to renal or laryngeal defects)

•

en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl

•

en:age at menarche:time:point in time:^patient:quantitative

•

en:patients do not have clinical hypothyroidism

•

en:overlap with tourette syndrome (137580)

•

en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:severe infantile form presents before 6 months

•

en:high frequency in northeastern brazil

•

en:variable features present

•

en:some patients are asymptomatic and diagnosed incidentally

•

en:some patients may show neurologic improvement late in life

•

en:sex ratio - 2.3 males-to-1 female

•

en:presentation after 18 months

•

en:onset in third or fourth decades

•

en:onset in childhood (later than in antenatal bartter syndrome 241200)

•

en:mutation in npr2 results in gain-of-function

•

en:manifestations continue to appear until 5th decade

•

en:infantile onset (in 1 patient)

•

en:incidence of 1 in 5,000 to 1 in 10,000

•

en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy'

•

en:ultrasound detection in second trimester of pregnancy

•

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

•

en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu)

•

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

•

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

•

en:variable age of onset (6 to 35 years)

•

en:two consanguineous lebanese families have been reported (last curated march 2015)

•

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

•

en:hearing loss was progressive in some patients

•

en:age of onset ranges from neonate to adulthood

•

en:age on onset - adolescence

•

en:frequency 1/100,000 - 1/130,000 live births

•

en:about 8% of female mutation carriers develop dilated cardiomyopathy

•

en:rare survival to teens

•

en:skeletal abnormalities are variable

•

en:skeletal and facial features are variable

•

en:some patients may have normal development until onset of seizures in infancy

•

en:uncommon and rare features seen in the most severely affected patients

•

en:sudden infant death may occur

•

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

•

en:variable age of onset, from 6 to 50 years of age

•

en:variable dysmorphic features

•

en:patients often become wheelchair-bound 3 to 4 decades after onset

•

en:patients present with groin pain

•

en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation

•

en:onset in childhood or adolescence (median age of 9 years)

•

en:onset by age 2 years

•

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

•

en:elevated afp can be seen in other disorders

•

en:decrease in frequency and severity of episodes in young adulthood

•

en:death usually in first year of life

•

en:a subset of patients may have congenital abnormalities of the ocular anterior segment

•

en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480)

•

en:age at onset 15 to 25 years

•

en:15 patients from 5 kindreds reported (as of february 2012)

•

en:autosomal recessive inheritance (245600) has also been suggested

•

en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142)

•

en:onset of symptoms at 2-4 months

•

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

•

en:onset of lymphedema before puberty

•

en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720)

•

en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions

•

en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080)

•

en:sib b did not receive mmr vaccination and was asymptomatic in infancy

•

en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome

•

en:progressive skeletal dysplasia

•

en:onset usually in the neonatal period although later onset has been reported

•

en:symptoms are responsive to cobalamin treatment

•

en:onset of proteinuria in the second to fourth decades

•

en:onset of optic atrophy in infancy or early childhood

•

en:prevalence of 1 in 200,000 to 1 in 800,000

•

en:onset in childhood of blistering and pigmentary changes

•

en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination

•

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

•

en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333)

•

en:genetic heterogeneity (bor2, 610896)

•

en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230)

•

en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500)

•

en:incidence - 1/16,000 live births

•

en:keratitis-ichthyosis-deafness syndrome

•

en:lethal in first weeks of life

•

en:no extraocular findings

•

en:multiple lesions in familial cases

•

en:rapidly progressive neonatal onset with early death

•

en:progressive disorder due to secondary myopathy

•

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:penetrance is usually complete by age 65 years

•

en:onset of disease 3-8 years

•

en:onset of clinical features around puberty

•

en:onset of alopecia in infancy

•

en:onset between ages 16-55

•

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

•

en:no clinical details provided by the authors

•

en:new skin lesions stop appearing before adolescence

•

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

•

en:most patients appear unaffected in the first year of life

•

en:most cases result from de novo mutation or deletion of rai1 (607642)

•

en:may progress to upper limbs

•

en:limited clinical information due to surgical removal of lens in affected individuals

•

en:incomplete penetrance with 45 to 51 repeats

•

en:four patients from 2 unrelated families have been reported (last curated april 2013)

•

en:foot dragging may appear in childhood

•

en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes

•

en:benign trait

•

en:based on one patient (last curated february 2015)

•

en:adult onset (sixth decade)

•

en:laboratory director name:pn:pt:provider:nom

•

en:some patients acquire late ambulation

•

en:see also cmtx1 (302800) and cmtx2 (302801)

•

en:high frequency of de novo mutations

•

en:some patients have milder persistent blistering

•

en:male-limited trait

•

en:some patients may be clinically asymptomatic

•

en:vhl type 2c - pheochromocytoma only

•

en:variable extraneurologic features

•

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

•

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

•

en:some patients may respond to thiamine treatment

•

en:seizures become nearly continuous

•

en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features

•

en:prevalence of 1 in 7,900 in cameroon

•

en:partial or absent response to steroid treatment

•

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

•

en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015)

•

en:phenotypic heterogeneity

•

en:left side involvement associated with serious cardiac defect

•

en:based on report of 2 unrelated patients

•

en:stage iv, late motor deterioration (when ambulation ceases)

•

en:subclavian artery supply disruption in embryogenesis has been suggested as etiology

•

en:increased penetrance of phenotype when there is maternal transmission of the mutant allele

•

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

•

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

•

en:age of onset between 6 to 10 years of age

•

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

•

en:childhood or adolescent onset (usually less than 25 years)

•

en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl

•

en:extracutaneous manifestations are variable

•

en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573)

•

en:death by age 15 months

•

en:two families have been reported (as of curation date april 2014)

•

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

•

en:two sibs each from unrelated saudi arabian families reported (last curated may 2014)

•

en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood

•

en:two families have been reported (last curated december 2010)

•

en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy

•

en:tumor suppressor genes

•

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

•

en:seizures may remit with age (in some patients)

•

en:three times more common in males

•

en:three girls from 2 unrelated families have been reported (last curated june 2014)

•

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

•

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

•

en:variable neurologic phenotype

•

en:two unrelated families have been reported (last curated may 2013)

•

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

•

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

•

en:two unrelated patients have been reported (last curated december 2010)

•

en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported

•

en:types of psoriasis include - plaque, guttate, erythrodermic, pustular

•

en:type iiib liver involvement only (15% of all cases)

•

en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic)

•

en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats

•

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

•

en:variable age at onset, range infancy to adult

•

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

•

en:variable clinical presentation ranging from acute onset to normal adult

•

en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation

•

en:variable phenotype within and between oi5 families

•

en:this patient died at age 8 months

•

en:some patients have juvenile-onset myoclonic epilepsy

•

en:symptoms present from infancy or early childhood

•

en:some patients can attend special school

•

en:variable response to acetazolamide and carbamazepine

•

en:seizures remit spontaneously by age 5 years

•

en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death

•

en:sex ratio - 2 females to 1 male

•

en:shields classification -

•

en:short limbs become more apparent during childhood

•

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

•

en:single mitochondrial dna deletions are found in sporadic kss patients

•

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

•

en:skewed x-inactivation, with complete skewing in some individuals

•

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

•

en:slightly increased female:male ratio (1.4:1 to 2:1)

•

en:some features are variable

•

en:some female patients can conceive after administration of gonadotropins

•

en:some patients do not manifest renal disease in the first decade of life

•

en:symptoms precipitated by exercise and excitement

•

en:some patients have additional neurologic involvement

•

en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)

•

en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood

•

en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder

•

en:spontaneously resolves by 5 to 6 months of age

•

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

•

en:spontaneous resolution usually after 12 months of age

•

en:successful treatment with oral isotretinoin

•

en:sudden death due to cardiac arrhythmia may occur

•

en:survival past infancy is rare

•

en:symptoms are not apparent at rest

•

en:symptoms improve following sleep

•

en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis

•

en:symptoms often decrease or remit with age

•

en:variable presentation and manifestations

•

en:allelic with cone-rod dystrophy 10 (610283)

•

en:vast majority of heterozygotes are asymptomatic

•

en:based on 2 reported patients (last curated january 2013)

•

en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622)

•

en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010)

•

en:allelic to usher syndrome, type id (601067)

•

en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype

•

en:also called 'heterozygous osmed' and 'autosomal dominant osmed'

•

en:approximately 40% of patients die within newborn period

•

en:approximately 50db loss in adulthood

•

en:asymptomatic heterozygotes susceptible to lead toxicity

•

en:autosomal recessive inheritance has also been reported

•

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

•

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

•

en:a minority of patients have onset after age 30 years

•

en:a second patient died at age 3 years

•

en:based on 1 reported family (last curated december 2013)

•

en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015)

•

en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650)

•

en:based on a report of 2 monozygotic twin girls (last curated october 2015)

•

en:based on one report of 4 unrelated sporadic patients

•

en:based on report of 1 japanese family (last curated november 2013)

•

en:based on report of 2 consanguineous pakistani families (last curated march 2016)

•

en:based on report of 5 brothers of arab-moslem descent (last curated february 2015)

•

en:based on report of one consanguineous kuwaiti family (last curated december 2014)

•

en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years)

•

en:blistering may worsen during the summer

•

en:blisters are precipitated by minor skin trauma

•

en:bone abnormalities improve with age

•

en:bone changes tend to develop after first decade

•

en:both recessive and dominant inheritance have been reported

•

en:boys are more often affected than girls (3:2)

•

en:brain mri abnormalities show improvement with time

•

en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670)

•

en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)

•

en:visceral manifestations are less apparent

•

en:about 5% of patients have a history of febrile seizures

•

en:visual acuity varies from 20/20 to no light perception

•

en:worsening of symptoms during sleep

•

en:date of autopsy:date:pt:^patient:qn

•

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

•

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

•

en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:(2) intermittent

•

en:10% due to paternal deletion

•

en:12% due to epimutation

•

en:3 reported cases, 1 pedigree of affected sibs, neither parent affected

•

en:abnormal sensitivity to therapeutic radiation

•

en:accounts for 1-2% of lymphomas in adults

•

en:allelic to autosomal recessive pxe (264800)

•

en:accounts for 5-15% of childhood epilepsies

•

en:adult onset (range 14 to 70 years)

•

en:affected individuals have a relatively mild ichthyosis phenotype

•

en:affected infants appear normal at birth

•

en:age at diagnosis 28 +/- 18 years

•

en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900)

•

en:allelic disorder to infantile neuroaxonal dystrophy (256600)

•

en:allelic disorder to juvenile nephronophthisis-1 (256100)

•

en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801)

•

en:allelic disorder to nf1

•

en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600)

•

en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400)

•

en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289)

•

en:allelic disorder to type iv glycogen storage disease (232500)

•

en:seizures may improve with age

•

en:onset of seizures around 7 to 12 years

•

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

•

en:old order amish, african american, and french patients have been described

•

en:most patients lose ambulation 2 years after onset

•

en:most patients require liver transplantation within the first year of life

•

en:motor symptoms are variable

•

en:murcs association

•

en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age

•

en:neuromuscular forms can present as perinate, infant, child, or adult

•

en:normal first month

•

en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe

•

en:not responsive to steroid treatment

•

en:no consistent disease phenotype

•

en:no increased fragility of hair

•

en:no response to phenobarbital

•

en:occurs during pregnancy, most often in the third trimester

•

en:one 3-generation korean family and one father daughter have been reported (last curated august 2013)

•

en:most common subtype of frontotemporal dementia (600274)

•

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

•

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

•

en:one consanguineous pakistani family has been reported (last curated march 2016)

•

en:one consanguineous pakistani reported (last curated july 2015)

•

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

•

en:one family has been reported (as of january 2012)

•

en:one family of algerian descent has been reported (last curated february 2015)

•

en:one family reported (as of may 2012)

•

en:one family reported (last curated january 2014)

•

en:one likely consanguineous turkish family has been reported (last curated january 2015)

•

en:one palestinian family and one lebanese family have been described (last curated march 2016)

•

en:one patient died at 17 months of age

•

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

•

en:onset 7 to 15 months of age

•

en:most frequently affected joints - hands (98%) and feet (88%)

•

en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001)

•

en:onset at 4 years of age

•

en:may have less severe phenotype than rsts patients with crebbp mutations

•

en:cardiomyopathy may develop later in the disease

•

en:late-adult onset (age 50 or later)

•

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

•

en:late onset combined immunodeficiency with allelic variant 102700.0020

•

en:left side involvement more frequent than right side involvement

•

en:limited clinical information provided on patients with bbs7 mutations

•

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

•

en:longer disease duration than creutzfeldt-jakob disease

•

en:majority are isolated cases

•

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

•

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

•

en:many patients recover normally

•

en:marked clinical heterogeneity

•

en:may be triggered by minor head trauma

•

en:may regress in adulthood

•

en:most common form of inherited, congenital hydrocephalus

•

en:mean age at onset 11.4 years (range 4 to 35)

•

en:mean age at onset 15.2 years

•

en:mean age at onset 35 years (range 20-60)

•

en:mean age at onset 45 years

•

en:mean age at onset of muscle disease is 42 years (range 24-61)

•

en:mean age of onset 14-24 months

•

en:mean duration of symptoms 4.2 plus or minus 2.4 years

•

en:median age at diagnosis 7 years

•

en:med is a heterogeneous disorder (see med1 (132400), med2 (600204), med3 (600969), med4 (226900), med5 (608078), and med with diabetes mellitus (226980))

•

en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate)

•

en:mild disease course

•

en:more common in men than women

•

en:most cases are caused by mutation in the phox2b gene

•

en:most common disorder of fatty acid oxidation (1/13,000 births)

•

en:onset after age 20 years

•

en:onset at age 5 years

•

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

•

en:prevalence of 7 in 100,000 live births

•

en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients

•

en:paris-trousseau thrombocytopenia can occur in jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23

•

en:patients may become totally dependent for all activities of daily living

•

en:patients walk on tips of toes with dorsal foot deviated laterally

•

en:patients with meb may acquire ability to walk and a few words

•

en:peak age of onset in second decade (range childhood to 76 years)

•

en:penetrance of disease is complete between 30 and 40 years of age

•

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

•

en:phenotypic variation

•

en:possible autosomal dominant (165199) and autosomal recessive (258650) forms

•

en:prenatal or neonatal onset

•

en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting

•

en:presents at a later stage than sporadic wilms tumor

•

en:prevalence in the finnish population of 5.8 per million

•

en:progression in adulthood

•

en:onset usually within first weeks of life

•

en:protracted disease course

•

en:rapidly progressive disorder

•

en:reduced life expectancy

•

en:relatively mild course

•

en:reported in individuals of french canadian origin

•

en:resembles pseudo-torch syndrome (251290)

•

en:responsive to thiazide diuretics

•

en:responsive to vitamin b12 therapy

•

en:see also autosomal dominant hypophosphatemic rickets (193100)

•

en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740)

•

en:see also familial developmental dysphasia (600117)

•

en:see also junctional eb with pyloric atresia (226730)

•

en:see also perinatal lethal variant (608013), which is more severe

•

en:see also pgl1 (168000)

•

en:onset within first 2 years of life

•

en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile')

•

en:onset at birth or in first months of life

•

en:onset in second to third decades (postlingual)

•

en:onset at early age, associated with sudden death in childhood

•

en:onset before 50 years of age

•

en:onset beyond the second year of life

•

en:onset early childhood

•

en:onset from first to third decades of life

•

en:onset in childhood, adolescence, and adulthood

•

en:onset in childhood (range 0.5 to 7 years)

•

en:onset in childhood or early adolescence

•

en:onset in childhood or second decade

•

en:onset in early infancy (2 to 3 months of age)

•

en:onset in first weeks or months of life

•

en:onset in infancy of acute hypoglycemic episodes

•

en:onset in late childhood/adolescence (approximately 15 years)

•

en:onset in second to fifth decade

•

en:onset in third to fifth decade of life

•

en:onset usually at birth, but may occur later

•

en:onset in utero or in infancy

•

en:onset of ataxia in the fifties

•

en:onset of bone fragility in childhood

•

en:onset of diabetes in neonatal period/ early infancy

•

en:onset of encephalopathy between ages 2 and 3 years

•

en:onset of gastrointestinal tumors typically occurs in the second decade

•

en:onset of macrocephaly in the first year of life

•

en:onset of normal pressure hydrocephalus after age 65 years

•

en:onset of optic atrophy in first decade

•

en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years

•

en:onset of seizures before age 2 years

•

en:onset of seizures in first 6 months of life

•

en:onset of symptoms 2-6 years of age

•

en:onset of vision loss in young adulthood (<20 years)

•

en:cancer onset usually in mid-adulthood

•

en:there are several subtypes

•

en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480)

•

en:prevalence of true hypoprothrombinemia is 1 in 2 million

•

en:patients with medication-resistant hypertension require bilateral adrenalectomy

•

en:patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days

•

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

•

en:pectus carinatum present in obligate carrier mothers

•

en:periventricular heterotopia (300049) is an allelic disorder

•

en:phenotype may be influenced by maternal alcohol consumption during pregnancy

•

en:phenotypic variability

•

en:physical features are apparent at birth

•

en:pigmentary abnormalities apparent at birth or in infancy

•

en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070

•

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

•

en:prenatal diagnosis by ultrasound

•

en:prevalence in caucasians is 1 in 1,000,000

•

en:prevalent in ashkenazi jews

•

en:patients from old order amish community and turkey have been reported

•

en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada

•

en:prevalent in sweden

•

en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache

•

en:progresses to involve upper limbs

•

en:progressive renal disorder

•

en:radioresistant dna synthesis

•

en:rapidly progressive deterioration (in some patients)

•

en:rapid disease progression from ages 40 to 50 years

•

en:recurrence is possible

•

en:relatively slow progression

•

en:renal dysfunction normalizes in the first year of life

•

en:retinal holes were present in an asymptomatic female carrier

•

en:risk of death due to cardiac dysfunction

•

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

•

en:patients may have recurrent infections due to immunosuppressive therapy

•

en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems

•

en:seasonal variation in severity of skin symptoms reported by some patients

•

en:onset of contractures in utero

•

en:onset between 2 to 20 years

•

en:onset between 6 and 15 years

•

en:onset between 6 and 9 months after normal early development

•

en:onset in childhood (3 to 10 years)

•

en:onset in early first decade, although some patients have onset at birth or early in infancy

•

en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age

•

en:onset in first weeks to months of life

•

en:onset in infancy or at birth

•

en:onset in infancy or early childhood

•

en:onset in late childhood or early teens

•

en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh)

•

en:onset in second or third decades

•

en:onset in utero in severely affected patients

•

en:onset in young adulthood or adulthood

•

en:onset of hypoglycemia and hyperinsulinism in the neonatal period

•

en:patients do not have ectopia lentis

•

en:onset of major clinical features in young adulthood

•

en:onset of parkinsonism in first decade

•

en:onset of peripheral neuropathy in the first decade

•

en:onset of scoliosis as early as 2 years of age

•

en:onset of skin manifestations from birth to puberty

•

en:onset of symptoms in childhood with stiff, painful joints

•

en:onset of symptoms in early childhood in most patients

•

en:onset usually in early childhood, although ranges from birth to adulthood

•

en:onset usually in first decade

•

en:onset usually in infancy or early childhood (9 months to 6 years)

•

en:onset usually in second decade (may occur earlier)

•

en:onset within first 3 months of life

•

en:part of 'dent disease complex' (see 300009)

•

en:patients do not exhibit skin pigmentation changes

•

en:sando (607459) is a phenotypic variant of autosomal recessive peo

•

en:secondary tumors develop within the skin lesions

•

en:onset 3 months of age up to 5 years

•

en:type 3 - brandywine isolate opalescent dentin (125500)

•

en:two families described (last curated july 2013)

•

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

•

en:two families with different phenotypes have been reported (as of september 2010)

•

en:two loci control synthesis of c4, c4a (120810) and c4b (120820)

•

en:two main presentations

•

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

•

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

•

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

•

en:two unrelated girls reported (last curated october 2013)

•

en:two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014)

•

en:two unrelated patients have been reported (last curated april 2015)

•

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

•

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

•

en:two unrelated patients have been reported (last curated july 2015)

•

en:ush3 cases account for 40% of all usher patients in finland

•

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

•

en:usually a manifestation of the carney complex (cnc1, 1609890)

•

en:usually follows a static course or is slowly progressive

•

en:usually symptomatic in adulthood with history of weakness since infancy or childhood

•

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

•

en:variable age at onset (childhood to adult)

•

en:variable age at onset (range 10 to 50 years)

•

en:variable age at onset (range 15 to 60 years)

•

en:variable expression

•

en:variable features

•

en:variable neuroradiologic findings

•

en:variable phenotypic expression

•

en:variable presentation and evolution of symptoms

•

en:variable severity, intrafamilial

•

en:visual and hearing loss are slowly progressive

•

en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age

•

en:three unrelated families have been reported (last curated june 2012)

•

en:see 177850 for description of heterozygous phenotype

•

en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome

•

en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410)

•

en:see also cmtx1 (302800) and cmt3x (302802)

•

en:see also more severe phenotype peeling skin syndrome (270300)

•

en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310)

•

en:see also pseudohypoparathyroidism type ia (php1a, 103580)

•

en:see ebn1 (121200) for an autosomal dominant form

•

en:segmental distribution often affecting 1 limb

•

en:seizures are usually refractory

•

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

•

en:severe infantile cases usually die by 6 months

•

en:severe phenotype onset - neonate

•

en:skin changes are progressive in childhood

•

en:skin erythroderma may resolve early, leaving atrophic lesions

•

en:skin lesion appear shortly after birth and tend to disappear in young adulthood

•

en:sleepwalking usually remits in adolescence

•

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

•

en:some laboratory abnormalities may fluctuate or improve with time

•

en:some patients are asymptomatic and detected only by newborn screening

•

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

•

en:some patients carry heterozygous mutations

•

en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence

•

en:some patients may be asymptomatic

•

en:some patients may develop concurrent failure to thrive and dyslipidemia

•

en:some patients may have a milder phenotype

•

en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons

•

en:sudden infantile death may occur

•

en:therapy-induced dyskinesias

•

en:three families have been reported (as of 28 june 2011)

•

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

•

en:three families of ashkenazi jewish descent have been reported (last curated march 2016)

•

en:onset age 32 to 45 years

•

en:onset 13-15 years

•

en:caused by inheritance of the mutation on the maternal allele (imprinting)

•

en:genetic heterogeneity (see cmt4b2, 604563)

•

en:features may be bilateral (15/24) or left side (9/24)

•

en:female carriers may develop mild hearing loss as adults

•

en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only

•

en:female mutation carriers have earlier age at onset compared to male mutation carriers

•

en:first identified in individuals of cypriot origin

•

en:foot deformities are present in infancy or childhood

•

en:four patients from 3 families have been reported (last curated december 2014)

•

en:fractures decrease after puberty but increase after menopause

•

en:fractures often heal without deformity

•

en:frequency of infections decreases after 3 years of age

•

en:generally considered to be a benign disorder

•

en:genetic heterogeneity, see ekd1 (128200)

•

en:genetic heterogeneity (see 161800)

•

en:genetic heterogeneity (see ebn2 121201, ebn3 608217)

•

en:favorable response to treatment with minocycline or azithromycin

•

en:genetic heterogeneity (see enfl1, 600513)

•

en:genetic heterogeneity (see rls2, 608831)

•

en:genetic heterogeneity (see rmd1, 600332)

•

en:germline and somatic mutations contribute to this disorder

•

en:good response to phosphate treatment

•

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

•

en:growth retardation onset in utero

•

en:has been described in patients of caucasus jewish origin

•

en:hearing loss may be stable or progressive

•

en:hearing loss ma be fluctuating or progressive

•

en:hearing loss occurs later if at all

•

en:hemolysis may be exercise-induced

•

en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct

•

en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)

•

en:favorable response to ursodeoxycholic acid treatment

•

en:favorable response to flunarizine

•

en:high prevalence in charlevoix-saguenay region of northeastern quebec

•

en:death often in first months of life

•

en:childhood onset has been reported in 1 family

•

en:childhood onset rarely occurs

•

en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies

•

en:chronic, relapsing condition

•

en:classical form (type i), less severe with survival into adulthood

•

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

•

en:complete penetrance but extreme variability of phenotypic expression

•

en:complete recovery during intervals

•

en:congenital abnormality

•

en:contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (601285), dlx5 (600028), and dlx6 (600030) genes and possible regulatory elements in the region

•

en:corrected by bone marrow transplantation

•

en:death in infancy in majority of patients

•

en:death in infancy secondary to kernicterus

•

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

•

en:death usually in infancy

•

en:favorable response to anticholinesterase medication

•

en:death within several months if untreated

•

en:distinctive and stereotyped sequence of events

•

en:dramatic late catch-up growth occurs in adolescence

•

en:dysmorphic facial features reported in 1 family

•

en:earliest symptom onset in sixth decade of life

•

en:early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less)

•

en:early childhood onset (before age 5 years)

•

en:early treatment can reduce neurologic symptoms

•

en:eight patients from 2 unrelated families have been reported (last curated march 2015)

•

en:episode frequency is monthly to yearly, and decreases with age

•

en:estimated prevalence of 1 in 16,000

•

en:exacerbated by stress

•

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

•

en:favorable response of seizures to a ketogenic diet

•

en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300)

•

en:high prevalence in japan

•

en:one patient with normal psychomotor development has been reported (last curated december 2012)

•

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

•

en:nails, palms, and soles are spared in some patients

•

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

•

en:neuromuscular, cardiovascular, and infectious symptoms improve with age

•

en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur

•

en:neuropsychiatric manifestations are variable

•

en:normal ability to tolerate heat

•

en:normal fertility

•

en:occurs most often between 5 and 15 years of age

•

en:older patients become wheelchair-dependent

•

en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene

•

en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014)

•

en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014)

•

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

•

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

•

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

•

en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy

•

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

•

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

•

en:one family of sicilian origin has been reported (last curated february 2016)

•

en:one family reported with piezo2 mutation (last curated january 2015)

•

en:one family with 6 probands described (as of september 2000)

•

en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement

•

en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013)

•

en:one patient died at age 7 years

•

en:one patient has been reported (as of curation date may, 2013)

•

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

•

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

•

en:one patient has been reported (last curated april 2015)

•

en:one patient has been reported (last curated february 2015)

•

en:one patient has been reported (last curated may 2015)

•

en:myoclonus occurs at rest and with action

•

•

en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes

•

en:many cases are asymptomatic

•

en:hyperkeratosis triggered by chronic mechanical irritation

•

en:impaired healing

•

en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes

•

en:incidence 1 in 8,000 live births

•

en:incomplete, but high, penetrance

•

en:increased frequency in the charlevoix and saguenat-lac-st-jean regions of quebec, canada (1 in 2,117 live births, carrier rate 1 in 23)

•

en:individuals may accumulate more pigment in hair and eyes with age

•

en:inheritance pattern is unclear

•

en:interfamilial and intrafamilial variability in severity of symptoms

•

en:juvenile and adult forms are isolated glycerol kinase deficiency

•

en:late-adult onset (usually after age 50 years)

•

en:later onset of neurologic features

•

en:limited clinical information provided for patients with mks1 mutations (last curated october 2014)

•

en:male to female ratio 7:1

•

en:marked intrafamilial and interfamilial variability

•

en:motor symptoms develop later (about 5 years into illness)

•

en:maternal imprinting

•

en:may be x-linked

•

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

•

en:mean age at onset of dementia is 57 years

•

en:mean age of onset 22 years (range 5-54)

•

en:median age at diagnosis, 59 years

•

en:mental retardation likely secondary to neonatal hypoxia

•

en:midline defects

•

en:mild cases show clinical, biochemical, and mri improvement after the second year of life

•

en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene

•

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

•

en:most patients are female

•

en:most patients die in first years of life

•

en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia

•

en:juvenile onset 4 years to puberty

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6944622 • caches: c1=6 c2=1002 c3=1

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