| H00204 | |
| H number | H00204 |
| Name | Heimler syndrome |
| 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 |
| Network | - |
| Gene | (HMLR1) PEX1 [HSA:5189] [KO:K13338] (HMLR2) PEX6 [HSA:5190] [KO:K13339] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.0Y MeSH: C535994 OMIM: 234580 616617 |
| Reference | PMID:32596134 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 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 |