| 词条 | Heimler syndrome |
| 释义 |
| name = Heimler syndrome | synonyms = | image = Autosomal recessive - en.svg | caption = Autosomal recessive pattern is the inheritance manner of this condition | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = Mutations in the PEX1 or PEX6 genes | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Heimler syndrome is a rare autosomal recessive condition characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities and occasional or late-onset retinal pigmentation Signs/symptomsThis condition is characterised by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities. GeneticsThis condition is caused by mutations in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes.[1] These gene are involved in perioxisome biogensis. PEX 1 is located on long arm of chromosome 7 (7q21).2 PEX 6 is located on the short arm of chromosome 6 (6p21). These genes encode AAA+ ATPases. They form part of the mechanism that shuttles the peroxisome targeting signal receptor protein PEX5 back to the cytosol after release of its protein cargo within the peroxisomal lumen. EpidemiologyThis is rare disorder. Precise estimates of its prevelence are not known but it appears be to be < 1/106 DiagnosisThe diagnosis is made on clinical grounds and confirmed by gene sequencing. Differential diagnosisNone has been reported to date. TreatmentThere is no treatment for this condition known at present. PrognosisThis condition tends to produce only mild abnormalitis. Life expectancy is normal HistoryThis condition was first described in 1991.[2] References1. ^Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G (2015) Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6. Am J Hum Genet 97(4):535-545 2. ^Heimler A, Fox JE, Hershey JE, Crespi P: Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. Am J Med Genet 39: 192–195 External links{{Medical resources| DiseasesDB = | ICD10 = | ICD9 = | ICDO = | OMIM = 234580 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = }} The Global Foundation for Peroxisomal Disorders - [Http://www.thegfpd.org www.thegfpd.org] 1 : Autosomal recessive disorders |
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