Details of Disease | DrugMAP

General Information of Disease (ID: DISOSKVC)

Disease Name	Cone-rod dystrophy 12
Synonyms	CORD12; cone-rod dystrophy 12; PROM1 cone-rod dystrophy; cone-rod dystrophy type 12; cone-rod dystrophy caused by mutation in PROM1
Definition	Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.
Disease Hierarchy	DISY9RWN: Cone-rod dystrophy DISOSKVC: Cone-rod dystrophy 12
Disease Identifiers	MONDO ID MONDO_0012983 MESH ID C567206 UMLS CUI C2675210 OMIM ID 612657 MedGen ID 393334

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PROM1	TTXMZ81	Limited	Genetic Variation	[1]
PROM1	TTXMZ81	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PROM1	OTBHV8NX	Strong	Autosomal recessive	[2]
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References

1	Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. Mol Vis. 2009 Aug 28;15:1709-16.
2	Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest. 2008 Aug;118(8):2908-16. doi: 10.1172/JCI35891.