Details of Disease | DrugMAP

General Information of Disease (ID: DIS3YW7N)

Disease Name	Microphthalmia, isolated, with coloboma 10
Synonyms	MCOPCB10; microphthalmia, isolated, with coloboma caused by mutation in RBP4; microphthalmia, isolated, with coloboma 10; microphthalmia, isolated, with coloboma type 10; RBP4 microphthalmia, isolated, with coloboma
Definition	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.
Disease Hierarchy	DISLSEUJ: Microphthalmia, isolated, with coloboma DIS3YW7N: Microphthalmia, isolated, with coloboma 10
Disease Identifiers	MONDO ID MONDO_0014635 UMLS CUI C4225330 OMIM ID 616428 MedGen ID 909133

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
RBP4	TT0C8BY	Strong	Autosomal dominant	[1]
RBP4	TT0C8BY	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RBP4	OTL9RBH5	Strong	Autosomal dominant	[1]
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References

1	Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. Cell. 2015 Apr 23;161(3):634-646. doi: 10.1016/j.cell.2015.03.006.