Details of Disease | DrugMAP

General Information of Disease (ID: DIS9ZCRA)

Disease Name	Cone-rod synaptic disorder, congenital nonprogressive
Synonyms	night blindness, congenital stationary, type 2B, formerly; night blindness, congenital stationary, incomplete, autosomal recessive; CRSD; night blindness, congenital stationary, type 2B; night blindness, congenital stationary, incomplete, autosomal recessive, formerly; cone-rod synaptic disorder, congenital nonprogressive
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DIS2BIP8: Congenital nervous system disorder DIS9ZCRA: Cone-rod synaptic disorder, congenital nonprogressive
Disease Identifiers	MONDO ID MONDO_0012490 MESH ID C536122 UMLS CUI C4041558 OMIM ID 610427 MedGen ID 874422

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RHO	TTH0KSX	Strong	Biomarker	[1]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDE6B	OTOJMB1V	Strong	Biomarker	[2]
RIMS2	OTQASWDH	Strong	Autosomal recessive	[3]
CABP4	OTL0TRR5	Definitive	Autosomal recessive	[4]
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	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.
3	Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement. Am J Hum Genet. 2020 Sep 3;107(3):580. doi: 10.1016/j.ajhg.2020.08.004.
4	A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. Invest Ophthalmol Vis Sci. 2009 May;50(5):2344-50. doi: 10.1167/iovs.08-2553. Epub 2008 Dec 13.
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.