Details of Disease

General Information of Disease (ID: DIS7OH04)

• Disease Name: Oculoauricular syndrome
• Synonyms: oculoauricular syndrome, Schorderet type; microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear; Schorderet-Munier-Franceschetti syndrome; OCACS; oculoauricular syndrome
• Definition: Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).
• Disease Hierarchy:
  DISR3JBJ: Syndromic microphthalmia
  DIS7OH04: Oculoauricular syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0012802
  MESH ID: C567416
  UMLS CUI: C2677500
  OMIM ID: 612109
  MedGen ID: 393758
  Orphanet ID: 157962

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HMX1	OT65ZGE0	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.