CSNB1G
MCID: NGH022
MIFTS: 21

Night Blindness, Congenital Stationary, Type 1g (CSNB1G)

Categories: Eye diseases, Genetic diseases, Mental diseases, Rare diseases

Aliases & Classifications for Night Blindness, Congenital Stationary, Type 1g

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type 1g:

Name: Night Blindness, Congenital Stationary, Type 1g 58 30 6
Csnb1g 58 12 76
Blindness, Night, Stationary, Congenital, Type 1g 41
Congenital Stationary Night Blindness Type 1g 12
Night Blindness, Congenital Stationary, 1g 76
Congenital Stationary Night Blindness 1g 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
retinal degeneration may develop with age (based on a report of an affected octogenarian)


HPO:

33
night blindness, congenital stationary, type 1g:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110714
OMIM 58 616389
MeSH 45 D009755

Summaries for Night Blindness, Congenital Stationary, Type 1g

UniProtKB/Swiss-Prot : 76 Night blindness, congenital stationary, 1G: An autosomal recessive 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.

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1g, is also known as csnb1g. An important gene associated with Night Blindness, Congenital Stationary, Type 1g is GNAT1 (G Protein Subunit Alpha Transducin 1). Affiliated tissues include bone and eye, and related phenotypes are blindness and optic disc pallor

Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.

Description from OMIM: 616389

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Type 1g

Human phenotypes related to Night Blindness, Congenital Stationary, Type 1g:

33
# Description HPO Frequency HPO Source Accession
1 blindness 33 HP:0000618
2 optic disc pallor 33 HP:0000543
3 congenital stationary night blindness 33 HP:0007642

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
disc pallor
normal visual acuity
nonprogressive night blindness from infancy or early childhood
markedly decreased or absent scotopic responses on electroretinography (erg)
normal or slightly reduced photopic responses on erg
more

Clinical features from OMIM:

616389

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Type 1g

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

Genetic Tests for Night Blindness, Congenital Stationary, Type 1g

Genetic tests related to Night Blindness, Congenital Stationary, Type 1g:

# Genetic test Affiliating Genes
1 Night Blindness, Congenital Stationary, Type 1g 30 GNAT1

Anatomical Context for Night Blindness, Congenital Stationary, Type 1g

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type 1g:

42
Bone, Eye

Publications for Night Blindness, Congenital Stationary, Type 1g

Articles related to Night Blindness, Congenital Stationary, Type 1g:

# Title Authors Year
1
A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration. ( 26472407 )
2016
2
GNAT1 associated with autosomal recessive congenital stationary night blindness. ( 22190596 )
2012

Variations for Night Blindness, Congenital Stationary, Type 1g

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Type 1g:

76
# Symbol AA change Variation ID SNP ID
1 GNAT1 p.Asp129Gly VAR_073798 rs786205854

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type 1g:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAT1 NM_144499.2(GNAT1): c.386A> G (p.Asp129Gly) single nucleotide variant Pathogenic rs786205854 GRCh37 Chromosome 3, 50231033: 50231033
2 GNAT1 NM_144499.2(GNAT1): c.386A> G (p.Asp129Gly) single nucleotide variant Pathogenic rs786205854 GRCh38 Chromosome 3, 50193600: 50193600
3 GNAT1 NM_144499.2(GNAT1): c.904C> T (p.Gln302Ter) single nucleotide variant Pathogenic rs374913800 GRCh37 Chromosome 3, 50232239: 50232239
4 GNAT1 NM_144499.2(GNAT1): c.904C> T (p.Gln302Ter) single nucleotide variant Pathogenic rs374913800 GRCh38 Chromosome 3, 50194806: 50194806

Expression for Night Blindness, Congenital Stationary, Type 1g

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Type 1g.

Pathways for Night Blindness, Congenital Stationary, Type 1g

GO Terms for Night Blindness, Congenital Stationary, Type 1g

Sources for Night Blindness, Congenital Stationary, Type 1g

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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