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Foveal hypoplasia-presenile cataract syndrome

MedGen UID:
419129
•Concept ID:
C2931644
•
Disease or Syndrome
Synonyms: Foveal Hypoplasia and Presenile Cataract Syndrome; Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts; Foveal hypoplasia, presenile cataract; O'Donnell Pappas syndrome
SNOMED CT: O'Donnell Pappas syndrome (778042000); Foveal hypoplasia with presenile cataract syndrome (778042000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016395
Orphanet: ORPHA2253

Definition

A rare genetic ocular disease with characteristics of congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life) and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. Caused by heterozygous mutation in the PAX6 gene on chromosome 11p13. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFoveal hypoplasia-presenile cataract syndrome

Recent clinical studies

Diagnosis

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.
Han R, Wang X, Wang D, Wang L, Yuan Z, Ying M, Li N
Sci Rep 2015 Jul 10;5:12031. doi: 10.1038/srep12031. PMID: 26160353Free PMC Article

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