CSNBAD3
MCID: NGH008
MIFTS: 35

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 56 73 13 71
Csnbad3 56 12 73
Congenital Stationary Night Blindness, Autosomal Dominant 3 29 6
Congenital Stationary Night Blindness Autosomal Dominant 3 12 15
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 3 39
Night Blindness, Congenital Stationary, Nougaret Type 56
Nougaret Type Congenital Stationary Night Blindness 12
Congenital Stationary Night Blindness Nougaret Type 73
Hemeralopia Congenital Essential 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
night blindness, congenital stationary, autosomal dominant 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110715
OMIM 56 610444
OMIM Phenotypic Series 56 PS310500
MeSH 43 D009755
MedGen 41 C1864870
UMLS 71 C1864870

Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 3

UniProtKB/Swiss-Prot : 73 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 and cone-rod dystrophy 2. An important gene associated with Night Blindness, Congenital Stationary, Autosomal Dominant 3 is GNAT1 (G Protein Subunit Alpha Transducin 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. 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

Diseases in the Congenital Stationary Night Blindness family:

Night Blindness, Congenital Stationary, Autosomal Dominant 2 Night Blindness, Congenital Stationary, Type 1b
Night Blindness, Congenital Stationary, Type 2a Night Blindness, Congenital Stationary, Type 1a
Night Blindness, Congenital Stationary, Autosomal Dominant 3 Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Type 1c Night Blindness, Congenital Stationary, Type 1d
Night Blindness, Congenital Stationary, Type 1e Night Blindness, Congenital Stationary, Type 1f
Night Blindness, Congenital Stationary, Type 1g Night Blindness, Congenital Stationary, Type 1h
Autosomal Dominant Congenital Stationary Night Blindness Autosomal Recessive Congenital Stationary Night Blindness

Diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 night blindness, congenital stationary, autosomal dominant 2 11.5
2 cone-rod dystrophy 2 10.4
3 yemenite deaf-blind hypopigmentation syndrome 10.4
4 congenital stationary night blindness 10.4
5 night blindness 10.4
6 autosomal dominant congenital stationary night blindness 10.4
7 mckusick-kaufman syndrome 9.8 BBS4 BBS12
8 borjeson-forssman-lehmann syndrome 9.7 BBS12 BBS10
9 alstrom syndrome 9.5 BBS5 BBS10
10 bardet-biedl syndrome 10 9.5 BBS4 BBS12 BBS10
11 senior-loken syndrome 1 9.4 BBS4 BBS12 BBS10
12 polydactyly 9.3 BBS4 BBS12 BBS10
13 retinal degeneration 9.1 GNAT1 BBS4 BBS10
14 leber congenital amaurosis 9.0 BBS5 BBS4 BBS12 BBS10
15 bardet-biedl syndrome 1 8.9 BBS9 BBS4 BBS12 BBS10
16 bardet-biedl syndrome 19 8.9 BBS9 BBS5 BBS12 BBS10
17 bardet-biedl syndrome 17 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
18 bardet-biedl syndrome 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
19 bardet-biedl syndrome 16 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
20 bardet-biedl syndrome 18 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
21 retinal disease 8.5 GNAT1 BBS9 BBS5 BBS4 BBS10
22 bardet-biedl syndrome 15 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
23 bardet-biedl syndrome 13 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
24 bardet-biedl syndrome 11 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
25 bardet-biedl syndrome 8 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
26 bardet-biedl syndrome 6 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
27 bardet-biedl syndrome 14 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
28 bardet-biedl syndrome 3 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
29 meckel syndrome, type 1 8.4 BBS9 BBS5 BBS4 BBS12 BBS10
30 joubert syndrome 1 8.4 BBS9 BBS5 BBS4 BBS12 BBS10
31 fundus dystrophy 8.2 GNAT1 BBS9 BBS5 BBS4 BBS12 BBS10
32 retinitis pigmentosa 8.1 GNAT1 BBS9 BBS5 BBS4 BBS12 BBS10

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 3:



Diseases related to 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:

31
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 congenital stationary night blindness 31 HP:0007642

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.8 BBS10 BBS12 BBS4 BBS5 BBS9 DOCK7
2 behavior/neurological MP:0005386 9.73 BBS10 BBS12 BBS4 BBS5 DOCK7 GNAT1
3 growth/size/body region MP:0005378 9.63 BBS10 BBS12 BBS4 BBS5 BBS9 DOCK7
4 pigmentation MP:0001186 9.13 BBS4 DOCK7 GNAT1
5 vision/eye MP:0005391 9.1 BBS10 BBS12 BBS4 BBS5 DOCK7 GNAT1

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:

40
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. 56 6
17584859 2007
2
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. 56 6
8673138 1996
3
Edward Nettleship (1845-1913) veterinarian-dermatologist-ophthalmologist-geneticist. 56
4919219 1970
4
Jean Nougaret, the butcher from Provence, and his family. 56
13989730 1963
5
Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy. 61
31583501 2019

Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 3

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNAT1 NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu)SNV Pathogenic 190967 rs786205853 3:50231544-50231544 3:50194111-50194111
2 GNAT1 NM_144499.3(GNAT1):c.113G>A (p.Gly38Asp)SNV Pathogenic 15926 rs104893740 3:50230572-50230572 3:50193139-50193139
3 GNAT1 NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser)SNV Uncertain significance 634632 rs1559746613 3:50231224-50231224 3:50193791-50193791

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

73
# 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

Pathways related to Night Blindness, Congenital Stationary, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 BBS9 BBS5 BBS4 BBS12 BBS10
2
Show member pathways
11.05 BBS9 BBS5 BBS4 BBS12 BBS10

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

Cellular components related to Night Blindness, Congenital Stationary, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.67 BBS9 BBS5 BBS4
2 cilium GO:0005929 9.55 BBS9 BBS5 BBS4 BBS12 BBS10
3 ciliary basal body GO:0036064 9.51 BBS5 BBS4
4 centriolar satellite GO:0034451 9.5 BBS9 BBS5 BBS4
5 photoreceptor outer segment GO:0001750 9.48 GNAT1 BBS4
6 photoreceptor inner segment GO:0001917 9.46 GNAT1 BBS4
7 photoreceptor connecting cilium GO:0032391 9.43 GNAT1 BBS4
8 ciliary membrane GO:0060170 9.43 BBS9 BBS5 BBS4
9 ciliary transition zone GO:0035869 9.4 BBS9 BBS4
10 pericentriolar material GO:0000242 9.37 BBS9 BBS4
11 cell projection GO:0042995 9.17 GNAT1 DOCK7 BBS9 BBS5 BBS4 BBS12
12 BBSome GO:0034464 9.13 BBS9 BBS5 BBS4

Biological processes related to Night Blindness, Congenital Stationary, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.72 BBS9 BBS5 BBS4
2 cilium assembly GO:0060271 9.58 BBS9 BBS5 BBS4
3 microtubule cytoskeleton organization GO:0000226 9.54 DOCK7 BBS4
4 cell projection organization GO:0030030 9.54 BBS9 BBS5 BBS4
5 fat cell differentiation GO:0045444 9.52 BBS9 BBS4
6 heart looping GO:0001947 9.51 BBS5 BBS4
7 non-motile cilium assembly GO:1905515 9.49 BBS4 BBS10
8 retina homeostasis GO:0001895 9.48 BBS4 BBS10
9 intracellular transport GO:0046907 9.46 BBS5 BBS4
10 protein localization to cilium GO:0061512 9.43 BBS9 BBS4
11 response to stimulus GO:0050896 9.35 GNAT1 BBS9 BBS5 BBS4 BBS10
12 photoreceptor cell maintenance GO:0045494 9.33 BBS4 BBS12 BBS10
13 melanosome transport GO:0032402 9.32 BBS5 BBS4
14 chaperone-mediated protein complex assembly GO:0051131 9.26 BBS12 BBS10
15 visual perception GO:0007601 9.02 GNAT1 BBS9 BBS5 BBS4 BBS10

Molecular functions related to Night Blindness, Congenital Stationary, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 8.8 BBS5 BBS4 BBS10

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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