CSNBAD3
MCID: NGH008
MIFTS: 22

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 57 74 13 72
Csnbad3 57 12 74
Congenital Stationary Night Blindness, Autosomal Dominant 3 29 6
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 3 40
Congenital Stationary Night Blindness Autosomal Dominant 3 12
Night Blindness, Congenital Stationary, Nougaret Type 57
Nougaret Type Congenital Stationary Night Blindness 12
Congenital Stationary Night Blindness Nougaret Type 74
Hemeralopia Congenital Essential 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
night blindness, congenital stationary, autosomal dominant 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110715
MeSH 44 D009755
MedGen 42 C1864870
UMLS 72 C1864870

Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 3

UniProtKB/Swiss-Prot : 74 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.

More information from OMIM: 610444 PS310500

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:

32
# Description HPO Frequency HPO Source Accession
1 blindness 32 HP:0000618
2 congenital stationary night blindness 32 HP:0007642

Symptoms via clinical synopsis from OMIM:

57
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 29 GNAT1

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

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

41
Eye

Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 3

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

# Title Authors PMID Year
1
p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. 8 71
17584859 2007
2
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. 8 71
8673138 1996
3
Edward Nettleship (1845-1913) veterinarian-dermatologist-ophthalmologist-geneticist. 8
4919219 1970
4
Jean Nougaret, the butcher from Provence, and his family. 8
13989730 1963

Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 3

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNAT1 NM_144499.3(GNAT1): c.113G> A (p.Gly38Asp) single nucleotide variant Pathogenic rs104893740 3:50230572-50230572 3:50193139-50193139
2 GNAT1 NM_144499.3(GNAT1): c.598C> G (p.Gln200Glu) single nucleotide variant Pathogenic rs786205853 3:50231544-50231544 3:50194111-50194111
3 GNAT1 NM_144499.3(GNAT1): c.488A> C (p.Tyr163Ser) single nucleotide variant Uncertain significance 3:50231224-50231224 3:50193791-50193791

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

74
# Symbol AA change Variation ID SNP ID
1 GNAT1 p.Gly38Asp VAR_009279 rs104893740
2 GNAT1 p.Gln200Glu VAR_073799 rs786205853

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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