CSNBAD3
MCID: NGH008
MIFTS: 21

Night Blindness, Congenital Stationary, Autosomal Dominant 3 (CSNBAD3)

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

Aliases & Classifications for Night Blindness, Congenital Stationary, Autosomal Dominant 3

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Autosomal Dominant 3:

Name: Night Blindness, Congenital Stationary, Autosomal Dominant 3 58 76 13 74
Csnbad3 58 12 76
Congenital Stationary Night Blindness, Autosomal Dominant 3 30 6
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 3 41
Congenital Stationary Night Blindness Autosomal Dominant 3 12
Night Blindness, Congenital Stationary, Nougaret Type 58
Nougaret Type Congenital Stationary Night Blindness 12
Congenital Stationary Night Blindness Nougaret Type 76
Hemeralopia Congenital Essential 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
night blindness, congenital stationary, autosomal dominant 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110715
OMIM 58 610444
MeSH 45 D009755
MedGen 43 C1864870
UMLS 74 C1864870

Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 3

UniProtKB/Swiss-Prot : 76 Night blindness, congenital stationary, autosomal dominant 3: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

MalaCards based summary : Night Blindness, Congenital Stationary, Autosomal Dominant 3, also known as csnbad3, is related to night blindness, congenital stationary, autosomal dominant 2. An important gene associated with Night Blindness, Congenital Stationary, Autosomal Dominant 3 is GNAT1 (G Protein Subunit Alpha Transducin 1). Affiliated tissues include eye, and related phenotypes are blindness and congenital stationary night blindness

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

Description from OMIM: 610444

Related Diseases for Night Blindness, Congenital Stationary, Autosomal Dominant 3

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Autosomal Dominant 3

Human phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 3:

33
# Description HPO Frequency HPO Source Accession
1 blindness 33 HP:0000618
2 congenital stationary night blindness 33 HP:0007642

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

610444

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Autosomal Dominant 3

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Autosomal Dominant 3

Genetic Tests for Night Blindness, Congenital Stationary, Autosomal Dominant 3

Genetic tests related to Night Blindness, Congenital Stationary, Autosomal Dominant 3:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Autosomal Dominant 3 30 GNAT1

Anatomical Context for Night Blindness, Congenital Stationary, Autosomal Dominant 3

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Autosomal Dominant 3:

42
Eye

Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 3

Articles related to Night Blindness, Congenital Stationary, Autosomal Dominant 3:

# Title Authors Year
1
p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. ( 17584859 )
2007
2
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. ( 8673138 )
1996

Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 3

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 3:

76
# Symbol AA change Variation ID SNP ID
1 GNAT1 p.Gly38Asp VAR_009279 rs104893740
2 GNAT1 p.Gln200Glu VAR_073799 rs786205853

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAT1 NM_144499.2(GNAT1): c.113G> A (p.Gly38Asp) single nucleotide variant Pathogenic rs104893740 GRCh37 Chromosome 3, 50230572: 50230572
2 GNAT1 NM_144499.2(GNAT1): c.113G> A (p.Gly38Asp) single nucleotide variant Pathogenic rs104893740 GRCh38 Chromosome 3, 50193139: 50193139
3 GNAT1 NM_144499.2(GNAT1): c.598C> G (p.Gln200Glu) single nucleotide variant Pathogenic rs786205853 GRCh37 Chromosome 3, 50231544: 50231544
4 GNAT1 NM_144499.2(GNAT1): c.598C> G (p.Gln200Glu) single nucleotide variant Pathogenic rs786205853 GRCh38 Chromosome 3, 50194111: 50194111

Expression for Night Blindness, Congenital Stationary, Autosomal Dominant 3

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Autosomal Dominant 3.

Pathways for Night Blindness, Congenital Stationary, Autosomal Dominant 3

GO Terms for Night Blindness, Congenital Stationary, Autosomal Dominant 3

Sources for Night Blindness, Congenital Stationary, Autosomal Dominant 3

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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