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Deafness, enamel hypoplasia, nail defect syndrome

MedGen UID:
343498
•Concept ID:
C1856186
•
Disease or Syndrome
Synonym: Heimler syndrome
SNOMED CT: Deafness, enamel hypoplasia, nail defect syndrome (721085000); Heimler syndrome (721085000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: PEX6, PEX1
 
OMIM®: 234580
Orphanet: ORPHA3220

Definition

This syndrome is characterized by sensorineural hearing loss, generalized enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau''s lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Deafness, enamel hypoplasia, nail defect syndrome in Orphanet.

Recent clinical studies

Etiology

Ultra-Widefield Imaging of Retinal Flecks and Corresponding Subretinal Hyperreflective Deposits in Heimler Syndrome.
Chen C, Hu G, Chen F, Liu K, Yu S, Xu X
Retina 2023 Jan 1;43(1):e1-e2. doi: 10.1097/IAE.0000000000003581. PMID: 36542084
Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.
Herijgers D, Denayer E, Balikova I, Witters P, Jacob J, Casteels I
Ophthalmic Genet 2021 Aug;42(4):480-485. Epub 2021 May 6 doi: 10.1080/13816810.2021.1923033. PMID: 33955814
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.
Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV
Ophthalmic Genet 2018 Jun;39(3):384-390. doi: 10.1080/13816810.2018.1432063. PMID: 29676688
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
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
Am J Hum Genet 2015 Oct 1;97(4):535-45. Epub 2015 Sep 17 doi: 10.1016/j.ajhg.2015.08.011. PMID: 26387595Free PMC Article

Diagnosis

Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.
Miranda V, Cortez L, Rosmaninho-Salgado J, Ramos F, Paiva C
J Pediatr Ophthalmol Strabismus 2024 Jan-Feb;61(1):59-66. Epub 2023 Apr 24 doi: 10.3928/01913913-20230220-01. PMID: 37092661
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
Daich Varela M, Jani P, Zein WM, D'Souza P, Wolfe L, Chisholm J, Zalewski C, Adams D, Warner BM, Huryn LA, Hufnagel RB
Am J Med Genet C Semin Med Genet 2020 Sep;184(3):618-630. Epub 2020 Aug 31 doi: 10.1002/ajmg.c.31823. PMID: 32866347Free PMC Article
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.
Mechaussier S, Marlin S, Kaplan J, Rozet JM, Perrault I
Adv Exp Med Biol 2019;1185:233-238. doi: 10.1007/978-3-030-27378-1_38. PMID: 31884617
Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ, Hu FY, Xu P, Qi YH, Li JK, Zhang YJ, Chen F, Chang Q, Song F, Shen SM, Xu GZ, Wu JH
Orphanet J Rare Dis 2019 Dec 12;14(1):290. doi: 10.1186/s13023-019-1243-x. PMID: 31831025Free PMC Article
Oculodentodigital dysplasia.
Doshi DC, Limdi PK, Parekh NV, Gohil NR
Indian J Ophthalmol 2016 Mar;64(3):227-30. doi: 10.4103/0301-4738.180191. PMID: 27146935Free PMC Article

Prognosis

Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.
Herijgers D, Denayer E, Balikova I, Witters P, Jacob J, Casteels I
Ophthalmic Genet 2021 Aug;42(4):480-485. Epub 2021 May 6 doi: 10.1080/13816810.2021.1923033. PMID: 33955814
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.
Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV
Ophthalmic Genet 2018 Jun;39(3):384-390. doi: 10.1080/13816810.2018.1432063. PMID: 29676688
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
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
Am J Hum Genet 2015 Oct 1;97(4):535-45. Epub 2015 Sep 17 doi: 10.1016/j.ajhg.2015.08.011. PMID: 26387595Free PMC Article

Clinical prediction guides

Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ, Hu FY, Xu P, Qi YH, Li JK, Zhang YJ, Chen F, Chang Q, Song F, Shen SM, Xu GZ, Wu JH
Orphanet J Rare Dis 2019 Dec 12;14(1):290. doi: 10.1186/s13023-019-1243-x. PMID: 31831025Free PMC Article
Macular dystrophy in Heimler syndrome.
Lima LH, Barbazetto IA, Chen R, Yannuzzi LA, Tsang SH, Spaide RF
Ophthalmic Genet 2011 Jun;32(2):97-100. Epub 2011 Mar 2 doi: 10.3109/13816810.2010.551797. PMID: 21366429Free PMC Article

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    Related information

    • ClinVar
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