MCID: NGH022
MIFTS: 18

Night Blindness, Congenital Stationary, Type 1g

Categories: Genetic diseases, Eye 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 57 29 6
Csnb1g 57 12 75
Blindness, Night, Stationary, Congenital, Type 1g 40
Congenital Stationary Night Blindness Type 1g 12
Night Blindness, Congenital Stationary, 1g 75
Congenital Stationary Night Blindness 1g 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
night blindness, congenital stationary, type 1g:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616389
Disease Ontology 12 DOID:0110714
MeSH 44 D009755
SNOMED-CT via HPO 69 258211005 193687000 232061009

Summaries for Night Blindness, Congenital Stationary, Type 1g

UniProtKB/Swiss-Prot : 75 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 phenotype is congenital stationary night blindness.

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nonprogressive night blindness from infancy or early childhood
normal visual acuity
unremarkable funduscopic examination (in younger patients)
disc pallor
arteriolar attenuation
more

Clinical features from OMIM:

616389

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

32
# Description HPO Frequency HPO Source Accession
1 congenital stationary night blindness 32 HP:0007642

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 29 GNAT1

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

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

41
Bone, Eye

Publications for Night Blindness, Congenital Stationary, Type 1g

Variations for Night Blindness, Congenital Stationary, Type 1g

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

75
# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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