Details of Disease

General Information of Disease (ID: DISY2GSJ)

Disease Name Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Synonyms ODRMD; optic DISC anomalies with retinal and/or macular dystrophy
Definition
A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DISQ1B1S: Disorder of visual system
DISY2GSJ: Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Disease Identifiers
MONDO ID
MONDO_0008927
UMLS CUI
C4225424
OMIM ID
212550
MedGen ID
894574
Orphanet ID
435930
SNOMED CT ID
1197357008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SIX6 OTD1RD9D Strong Autosomal recessive [1]
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References

1 Homozygous truncation of SIX6 causes complex microphthalmia in humans. Clin Genet. 2013 Aug;84(2):198-9. doi: 10.1111/cge.12046. Epub 2012 Nov 20.