Details of Disease | DrugMAP

General Information of Disease (ID: DISRDSES)

Disease Name	Retinitis pigmentosa 49
Synonyms	retinitis pigmentosa type 49; retinitis pigmentosa 49; retinitis pigmentosa caused by mutation in CNGA1; RP49; CNGA1 retinitis pigmentosa
Definition	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.
Disease Hierarchy	DISJTA9T: CNGA1-related retinopathy DISCGPY8: Retinitis pigmentosa DISRDSES: Retinitis pigmentosa 49
Disease Identifiers	MONDO ID MONDO_0013405 UMLS CUI C3151059 OMIM ID 613756 MedGen ID 462409

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
CNGA1	TTHIQMC	Limited	CausalMutation	[1]
CNGA1	TTHIQMC	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NIPAL1	OTRYI60X	Strong	CausalMutation	[1]
CNGA1	OT0RXMJN	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. PLoS One. 2014 Sep 30;9(9):e108721. doi: 10.1371/journal.pone.0108721. eCollection 2014.
2	Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. Mol Vis. 2004 Nov 17;10:884-9.