Details of Disease | DrugMAP

General Information of Disease (ID: DISZ8V5R)

Disease Name	Congenital stationary night blindness 1B
Synonyms	night blindness, congenital stationary, type 1B; CSNB, complete, autosomal recessive; night blindness, congenital stationary, complete, autosomal recessive; congenital stationary night blindness 1B autosomal recessive; CSNB1B; autosomal recessive complete congenital stationary night blindness; night blindness, congenital stationary (complete), 1B, autosomal recessive; GRM6 congenital stationary night blindness; congenital stationary night blindness 1B; congenital stationary night blindness type 1B; congenital stationary night blindness caused by mutation in GRM6
Definition	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.
Disease Hierarchy	DISNEXI6: GRM6-related retinopathy DISX0CWK: Congenital stationary night blindness DIS2BIP8: Congenital nervous system disorder DISZ8V5R: Congenital stationary night blindness 1B
Disease Identifiers	MONDO ID MONDO_0009758 MESH ID C536122 UMLS CUI C1850362 OMIM ID 257270 MedGen ID 342484

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RHO	TTH0KSX	Strong	Biomarker	[1]
GRM6	TTWRP2F	Definitive	Autosomal recessive	[2]
GRM6	TTWRP2F	Definitive	Biomarker	[3]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDE6B	OTOJMB1V	Strong	Biomarker	[4]
GRM6	OTH95T77	Definitive	Autosomal recessive	[2]
SAG	OTDNS3ZQ	Definitive	Biomarker	[5]
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References

1	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.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3	A missense mutation in Grm6 reduces but does not eliminate mGluR6 expression or rod depolarizing bipolar cell function.J Neurophysiol. 2017 Aug 1;118(2):845-854. doi: 10.1152/jn.00888.2016. Epub 2017 May 10.
4	Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994 May;7(1):64-8. doi: 10.1038/ng0594-64.
5	A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet. 1995 Jul;10(3):360-2. doi: 10.1038/ng0795-360.