KEGG DISEASE: Heimler syndrome

KEGG

DISEASE: Heimler syndrome

Entry

H00204                      Disease

Name

Heimler syndrome

Supergrp

Peroxisome biogenesis disorder [DS:H00205]

Description

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been reported that HS is caused by hypomorphic mutations in the peroxisome biogenesis genes PEX1 and PEX6. HS is considered the mildest end of Zellweger syndrome spectrum disorders.

Category

Inherited metabolic disorder, Peroxisomal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00204  Heimler syndrome

Pathway

Peroxisome

Gene

(HMLR1) PEX1 [HSA:5189] [KO:K13338]
(HMLR2) PEX6 [HSA:5190] [KO:K13339]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Barillari MR, Karali M, Di Iorio V, Contaldo M, Piccolo V, Esposito M, Costa G, Argenziano G, Serpico R, Carotenuto M, Cappuccio G, Banfi S, Melillo P, Simonelli F

Title

Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female.

Journal

Mol Genet Metab Rep 24:100615 (2020)
DOI:10.1016/j.ymgmr.2020.100615

Reference

PMID:26387595 (PEX1, PEX6)

Authors

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

Title

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Journal

Am J Hum Genet 97:535-45 (2015)
DOI:10.1016/j.ajhg.2015.08.011

LinkDB

» Japanese version

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