Details of Disease | DrugMAP

General Information of Disease (ID: DISFPXWP)

Disease Name	Congenital stationary night blindness autosomal dominant 1
Synonyms	night blindness, congenital stationary, rhodopsin-related; night blindness, congenital stationary, autosomal dominant 1; congenital stationary night blindness autosomal dominant type 1; CSNBAD1; night blindness, congenital stationary, autosomal dominant type 1; RHO congenital stationary night blindness; rhodopsin-related congenital stationary night blindness; congenital stationary night blindness caused by mutation in RHO
Definition	Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DIS2BIP8: Congenital nervous system disorder DISFPXWP: Congenital stationary night blindness autosomal dominant 1
Disease Identifiers	MONDO ID MONDO_0012498 MESH ID C566474 UMLS CUI C1864869 OMIM ID 610445 MedGen ID 355852

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
RHO	TTH0KSX	Limited	CausalMutation	[1]
RHO	TTH0KSX	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RHO	OT33SU2R	Definitive	Autosomal dominant	[2]
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References

1	Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.J Mol Biol. 2011 Jan 14;405(2):584-606. doi: 10.1016/j.jmb.2010.11.003. Epub 2010 Nov 19.
2	Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet. 1993 Jul;4(3):280-3. doi: 10.1038/ng0793-280.