CSNBAD3
MCID: NGH008
MIFTS: 37

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

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal 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. 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 34)
# 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 borjeson-forssman-lehmann syndrome 9.7 BBS12 BBS10
8 bardet-biedl syndrome 10 9.4 BBS4 BBS12 BBS10
9 cranioectodermal dysplasia 1 9.4 BBS9 BBS4
10 retinal degeneration 9.3 GNAT1 BBS4 BBS10
11 joubert syndrome 1 9.2 GNAT1 BBS5 BBS4
12 alstrom syndrome 9.1 BBS5 BBS4 BBS12 BBS10
13 mckusick-kaufman syndrome 9.1 BBS5 BBS4 BBS12 BBS10
14 senior-loken syndrome 1 9.1 BBS5 BBS4 BBS12 BBS10
15 polydactyly 9.0 BBS5 BBS4 BBS12 BBS10
16 bardet-biedl syndrome 1 8.9 BBS9 BBS4 BBS12 BBS10
17 bardet-biedl syndrome 19 8.9 BBS9 BBS5 BBS12 BBS10
18 inherited retinal disorder 8.7 BBS9 BBS5 BBS12 BBS10
19 bardet-biedl syndrome 15 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
20 bardet-biedl syndrome 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
21 bardet-biedl syndrome 17 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
22 bardet-biedl syndrome 18 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
23 retinal disease 8.5 GNAT1 BBS9 BBS5 BBS4 BBS10
24 bardet-biedl syndrome 16 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
25 bardet-biedl syndrome 13 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
26 bardet-biedl syndrome 11 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
27 bardet-biedl syndrome 8 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
28 bardet-biedl syndrome 6 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
29 bardet-biedl syndrome 3 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
30 bardet-biedl syndrome 14 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
31 meckel syndrome, type 1 8.5 BBS9 BBS5 BBS4 BBS12 BBS10
32 leber plus disease 8.4 BBS9 BBS5 BBS4 BBS12 BBS10
33 fundus dystrophy 8.2 GNAT1 BBS9 BBS5 BBS4 BBS12 BBS10
34 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 9.02 BBS10 BBS12 BBS4 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

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. 6 56
17584859 2007
2
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. 6 56
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 2020

Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 3

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

6 (show top 50) (show all 53) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNAT1 NM_144499.3(GNAT1):c.113G>A (p.Gly38Asp)SNV Pathogenic 15926 rs104893740 3:50230572-50230572 3:50193139-50193139
2 GNAT1 NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu)SNV Pathogenic 190967 rs786205853 3:50231544-50231544 3:50194111-50194111
3 GNAT1 NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)SNV Conflicting interpretations of pathogenicity 488669 rs374913800 3:50232239-50232239 3:50194806-50194806
4 GNAT1 NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser)SNV Uncertain significance 634632 rs1559746613 3:50231224-50231224 3:50193791-50193791
5 GNAT1 NM_144499.3(GNAT1):c.165C>T (p.Asp55=)SNV Uncertain significance 902549 3:50230713-50230713 3:50193280-50193280
6 GNAT1 NM_144499.3(GNAT1):c.*2046G>CSNV Uncertain significance 903456 3:50234745-50234745 3:50197312-50197312
7 GNAT1 NM_144499.3(GNAT1):c.*2128C>ASNV Uncertain significance 903457 3:50234827-50234827 3:50197394-50197394
8 GNAT1 NM_144499.3(GNAT1):c.773C>T (p.Thr258Met)SNV Uncertain significance 903402 3:50231998-50231998 3:50194565-50194565
9 GNAT1 NM_144499.3(GNAT1):c.*678C>TSNV Uncertain significance 900948 3:50233377-50233377 3:50195944-50195944
10 GNAT1 NM_144499.3(GNAT1):c.*728C>TSNV Uncertain significance 900949 3:50233427-50233427 3:50195994-50195994
11 GNAT1 NM_144499.3(GNAT1):c.*806G>ASNV Uncertain significance 900950 3:50233505-50233505 3:50196072-50196072
12 GNAT1 NM_144499.3(GNAT1):c.*834T>ASNV Uncertain significance 900951 3:50233533-50233533 3:50196100-50196100
13 GNAT1 NM_144499.3(GNAT1):c.*903G>ASNV Uncertain significance 900952 3:50233602-50233602 3:50196169-50196169
14 GNAT1 NM_144499.3(GNAT1):c.*1274G>ASNV Uncertain significance 902605 3:50233973-50233973 3:50196540-50196540
15 GNAT1 NM_144499.3(GNAT1):c.*1789A>GSNV Uncertain significance 346071 rs187475557 3:50234488-50234488 3:50197055-50197055
16 GNAT1 NM_144499.3(GNAT1):c.*1954C>TSNV Uncertain significance 346072 rs377634380 3:50234653-50234653 3:50197220-50197220
17 GNAT1 NM_144499.3(GNAT1):c.830C>T (p.Ala277Val)SNV Uncertain significance 346051 rs886058685 3:50232055-50232055 3:50194622-50194622
18 GNAT1 NM_144499.3(GNAT1):c.*5C>TSNV Uncertain significance 346056 rs554301590 3:50232704-50232704 3:50195271-50195271
19 GNAT1 NM_144499.3(GNAT1):c.*128T>ASNV Uncertain significance 346057 rs886058686 3:50232827-50232827 3:50195394-50195394
20 GNAT1 NM_144499.3(GNAT1):c.149+8C>ASNV Uncertain significance 902548 3:50230616-50230616 3:50193183-50193183
21 GNAT1 NM_144499.3(GNAT1):c.926G>C (p.Arg309Pro)SNV Uncertain significance 346054 rs367790137 3:50232261-50232261 3:50194828-50194828
22 GNAT1 NM_144499.3(GNAT1):c.*2074T>CSNV Uncertain significance 346074 rs886058691 3:50234773-50234773 3:50197340-50197340
23 GNAT1 NM_144499.3(GNAT1):c.*1205C>TSNV Uncertain significance 346066 rs886058688 3:50233904-50233904 3:50196471-50196471
24 GNAT1 NM_144499.3(GNAT1):c.*1369G>TSNV Uncertain significance 346067 rs563891409 3:50234068-50234068 3:50196635-50196635
25 GNAT1 NM_144499.3(GNAT1):c.*1379G>ASNV Uncertain significance 346068 rs886058689 3:50234078-50234078 3:50196645-50196645
26 GNAT1 NM_144499.3(GNAT1):c.*2129G>ASNV Uncertain significance 346075 rs886058692 3:50234828-50234828 3:50197395-50197395
27 GNAT1 NM_144499.3(GNAT1):c.*2267C>TSNV Uncertain significance 346076 rs886058693 3:50234966-50234966 3:50197533-50197533
28 GNAT1 NM_144499.3(GNAT1):c.882C>T (p.Asp294=)SNV Uncertain significance 346053 rs775329814 3:50232217-50232217 3:50194784-50194784
29 GNAT1 NM_144499.3(GNAT1):c.*551C>TSNV Uncertain significance 346061 rs116031664 3:50233250-50233250 3:50195817-50195817
30 GNAT1 NM_144499.3(GNAT1):c.*1101C>TSNV Uncertain significance 346063 rs886058687 3:50233800-50233800 3:50196367-50196367
31 GNAT1 NM_144499.3(GNAT1):c.*1991G>ASNV Uncertain significance 346073 rs886058690 3:50234690-50234690 3:50197257-50197257
32 GNAT1 NM_144499.3(GNAT1):c.39G>A (p.Arg13=)SNV Likely benign 346045 rs201955783 3:50229197-50229197 3:50191764-50191764
33 GNAT1 NM_144499.3(GNAT1):c.15C>T (p.Ala5=)SNV Likely benign 900878 3:50229173-50229173 3:50191740-50191740
34 GNAT1 NM_144499.3(GNAT1):c.876C>T (p.Tyr292=)SNV Benign/Likely benign 346052 rs142612552 3:50232211-50232211 3:50194778-50194778
35 GNAT1 NM_144499.3(GNAT1):c.*516T>GSNV Benign 346060 rs11919418 3:50233215-50233215 3:50195782-50195782
36 GNAT1 NM_144499.3(GNAT1):c.*1397G>TSNV Benign 346069 rs74718377 3:50234096-50234096 3:50196663-50196663
37 GNAT1 NM_144499.3(GNAT1):c.241G>A (p.Val81Ile)SNV Benign 346048 rs201849628 3:50230789-50230789 3:50193356-50193356
38 GNAT1 NM_144499.3(GNAT1):c.-2C>GSNV Benign 346043 rs151191490 3:50229157-50229157 3:50191724-50191724
39 GNAT1 NM_144499.3(GNAT1):c.*183C>GSNV Benign 346058 rs556104512 3:50232882-50232882 3:50195449-50195449
40 GNAT1 NM_144499.3(GNAT1):c.*410A>GSNV Benign 346059 rs557823715 3:50233109-50233109 3:50195676-50195676
41 GNAT1 NM_144499.3(GNAT1):c.*1187G>ASNV Benign 346065 rs192468377 3:50233886-50233886 3:50196453-50196453
42 GNAT1 NM_144499.3(GNAT1):c.*1427A>GSNV Benign 346070 rs34877766 3:50234126-50234126 3:50196693-50196693
43 GNAT1 NM_144499.3(GNAT1):c.411G>A (p.Glu137=)SNV Benign 903401 3:50231058-50231058 3:50193625-50193625
44 GNAT1 NM_144499.3(GNAT1):c.*2329A>GSNV Benign 899842 3:50235028-50235028 3:50197595-50197595
45 GNAT1 NM_144499.3(GNAT1):c.675C>T (p.Ala225=)SNV Benign 346050 rs4688684 3:50231621-50231621 3:50194188-50194188
46 GNAT1 NM_144499.3(GNAT1):c.*1990G>ASNV Benign 903455 3:50234689-50234689 3:50197256-50197256
47 GNAT1 NM_144499.3(GNAT1):c.*618C>TSNV Benign 346062 rs13064381 3:50233317-50233317 3:50195884-50195884
48 GNAT1 NM_144499.3(GNAT1):c.*1174G>ASNV Benign 346064 rs114828382 3:50233873-50233873 3:50196440-50196440
49 GNAT1 NM_144499.3(GNAT1):c.38G>A (p.Arg13Lys)SNV Benign 346044 rs201006405 3:50229196-50229196 3:50191763-50191763
50 GNAT1 NM_144499.3(GNAT1):c.83G>A (p.Arg28Gln)SNV Benign 346046 rs149936603 3:50229241-50229241 3:50191808-50191808

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 11)
# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.63 BBS9 BBS5 BBS4
2 cilium GO:0005929 9.55 BBS9 BBS5 BBS4 BBS12 BBS10
3 centriolar satellite GO:0034451 9.49 BBS9 BBS4
4 photoreceptor outer segment GO:0001750 9.48 GNAT1 BBS4
5 photoreceptor inner segment GO:0001917 9.43 GNAT1 BBS4
6 ciliary membrane GO:0060170 9.43 BBS9 BBS5 BBS4
7 photoreceptor connecting cilium GO:0032391 9.4 GNAT1 BBS4
8 ciliary transition zone GO:0035869 9.37 BBS9 BBS4
9 pericentriolar material GO:0000242 9.32 BBS9 BBS4
10 cell projection GO:0042995 9.17 GNAT1 DOCK7 BBS9 BBS5 BBS4 BBS12
11 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 13)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.7 BBS9 BBS5 BBS4
2 cilium assembly GO:0060271 9.58 BBS9 BBS5 BBS4
3 cell projection organization GO:0030030 9.54 BBS9 BBS5 BBS4
4 fat cell differentiation GO:0045444 9.51 BBS9 BBS4
5 heart looping GO:0001947 9.49 BBS5 BBS4
6 non-motile cilium assembly GO:1905515 9.48 BBS4 BBS10
7 intracellular transport GO:0046907 9.46 BBS5 BBS4
8 protein localization to cilium GO:0061512 9.43 BBS9 BBS4
9 response to stimulus GO:0050896 9.35 GNAT1 BBS9 BBS5 BBS4 BBS10
10 photoreceptor cell maintenance GO:0045494 9.33 BBS4 BBS12 BBS10
11 chaperone-mediated protein complex assembly GO:0051131 9.32 BBS12 BBS10
12 melanosome transport GO:0032402 9.26 BBS5 BBS4
13 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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