Details of Disease | DrugMAP

General Information of Disease (ID: DIS1W9WJ)

Disease Name	Familial cavitary optic disk anomaly
Synonyms	cavitary optic DISC anomalies; CODA; familial CODA
Disease Hierarchy	DISB52BH: Eye disorder DISYKSRF: Genetic disease DIS1W9WJ: Familial cavitary optic disk anomaly
Disease Identifiers	MONDO ID MONDO_0012687 MESH ID C566924 UMLS CUI C1969063 OMIM ID 611543 MedGen ID 370593 Orphanet ID 464760 SNOMED CT ID 1197365006

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
MMP19	OTLSTT2B	Supportive	Autosomal dominant	[1]
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References

1	Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly. Hum Mutat. 2015 Mar;36(3):369-78. doi: 10.1002/humu.22754.