Details of Disease | DrugMAP

General Information of Disease (ID: DISWBNL8)

Disease Name	Congenital stationary night blindness 1C
Synonyms	CSNB, complete, autosomal recessive; night blindness, congenital stationary, type 1C; night blindness, congenital stationary (complete), 1C, autosomal recessive; congenital stationary night blindness caused by mutation in TRPM1; congenital stationary night blindness 1C autosomal recessive; TRPM1 congenital stationary night blindness; congenital stationary night blindness type 1C; congenital stationary night blindness 1C; CSNB1C
Definition	Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DISZOCZG: TRPM1-related retinopathy DISWBNL8: Congenital stationary night blindness 1C
Disease Identifiers	MONDO ID MONDO_0013183 MESH ID C567704 UMLS CUI C2750747 OMIM ID 613216 MedGen ID 416373

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
TRPM1	TTTDAI9	Strong	Genetic Variation	[1]
TRPM1	TTTDAI9	Definitive	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
TRPM1	OTQT1Z4O	Definitive	Autosomal recessive	[2]
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References

1	Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.Ophthalmology. 2016 May;123(5):1143-50. doi: 10.1016/j.ophtha.2016.01.009. Epub 2016 Feb 9.
2	TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub 2009 Nov 5.