CSNB1H
MCID: CNG484
MIFTS: 12

Congenital Stationary Night Blindness 1h (CSNB1H) malady

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Stationary Night Blindness 1h

Aliases & Descriptions for Congenital Stationary Night Blindness 1h:

Name: Congenital Stationary Night Blindness 1h 12
Csnb1h 12 66
Congenital Stationary Night Blindness Type 1h 12
Night Blindness, Congenital Stationary, 1h 66

Classifications:



External Ids:

Disease Ontology 12 DOID:0110866
MedGen 40 CN237389
MeSH 42 D009755

Summaries for Congenital Stationary Night Blindness 1h

UniProtKB/Swiss-Prot : 66 Night blindness, congenital stationary, 1H: A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive.

MalaCards based summary : Congenital Stationary Night Blindness 1h, is also known as csnb1h. An important gene associated with Congenital Stationary Night Blindness 1h is GNB3 (G Protein Subunit Beta 3). Affiliated tissues include eye.

Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.

Symptoms & Phenotypes for Congenital Stationary Night Blindness 1h

Drugs & Therapeutics for Congenital Stationary Night Blindness 1h

Search Clinical Trials , NIH Clinical Center for Congenital Stationary Night Blindness 1h

Genetic Tests for Congenital Stationary Night Blindness 1h

Anatomical Context for Congenital Stationary Night Blindness 1h

MalaCards organs/tissues related to Congenital Stationary Night Blindness 1h:

39
Eye

Publications for Congenital Stationary Night Blindness 1h

Variations for Congenital Stationary Night Blindness 1h

ClinVar genetic disease variations for Congenital Stationary Night Blindness 1h:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GNB3 NM_002075.3(GNB3): c.1017G> A (p.Trp339Ter) single nucleotide variant Pathogenic rs879253773 GRCh37 Chromosome 12, 6956056: 6956056
2 GNB3 NM_002075.3(GNB3): c.170_172delAGA (p.Lys57del) deletion Pathogenic rs879253774 GRCh37 Chromosome 12, 6952207: 6952209
3 GNB3 NM_002075.3(GNB3): c.200C> T (p.Ser67Phe) single nucleotide variant Pathogenic rs140263599 GRCh37 Chromosome 12, 6952237: 6952237

Expression for Congenital Stationary Night Blindness 1h

Search GEO for disease gene expression data for Congenital Stationary Night Blindness 1h.

Pathways for Congenital Stationary Night Blindness 1h

GO Terms for Congenital Stationary Night Blindness 1h

Sources for Congenital Stationary Night Blindness 1h

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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