Details of Disease | DrugMAP

General Information of Disease (ID: DISCB00J)

Disease Name	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Synonyms	RDGCA; retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities; retinal dystrophy with inner nuclear layer and ganglion cell anomalies
Disease Hierarchy	DISGGL77: Inherited retinal dystrophy DISCB00J: Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Disease Identifiers	MONDO ID MONDO_0014483 UMLS CUI C4015146 OMIM ID 616079 MedGen ID 863583 Orphanet ID 397758

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
ITM2B	OTMXEPXB	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Hum Mol Genet. 2014 Jan 15;23(2):491-501. doi: 10.1093/hmg/ddt439. Epub 2013 Sep 10.