CSNB1G
MCID: NGH022
MIFTS: 21

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

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal 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 72
Blindness, Night, Stationary, Congenital, Type 1g 39
Congenital Stationary Night Blindness Type 1g 12
Night Blindness, Congenital Stationary, 1g 72
Congenital Stationary Night Blindness 1g 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
night blindness, congenital stationary, type 1g:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110714
OMIM® 57 616389
OMIM Phenotypic Series 57 PS310500
MeSH 44 D009755

Summaries for Night Blindness, Congenital Stationary, Type 1g

UniProtKB/Swiss-Prot : 72 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 eye and bone, 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.

More information from OMIM: 616389 PS310500

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

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

31
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 optic disc pallor 31 HP:0000543
3 congenital stationary night blindness 31 HP:0007642

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Eye, Bone

Publications for Night Blindness, Congenital Stationary, Type 1g

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

# Title Authors PMID Year
1
A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration. 6 57
26472407 2016
2
GNAT1 associated with autosomal recessive congenital stationary night blindness. 6 57
22190596 2012

Variations for Night Blindness, Congenital Stationary, Type 1g

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNAT1 NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly) SNV Pathogenic 190968 rs786205854 GRCh37: 3:50231033-50231033
GRCh38: 3:50193600-50193600
2 GNAT1 NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser) SNV Uncertain significance 634632 rs1559746613 GRCh37: 3:50231224-50231224
GRCh38: 3:50193791-50193791
3 GNAT1 NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe) SNV Uncertain significance 930996 GRCh37: 3:50230807-50230807
GRCh38: 3:50193374-50193374
4 GNAT1 NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val) SNV Uncertain significance 932142 GRCh37: 3:50232350-50232350
GRCh38: 3:50194917-50194917
5 GNAT1 NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) SNV Uncertain significance 488669 rs374913800 GRCh37: 3:50232239-50232239
GRCh38: 3:50194806-50194806

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

72
# Symbol AA change Variation ID SNP ID
1 GNAT1 p.Asp129Gly VAR_073798 rs786205854

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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