CSNB1H
MCID: NGH024
MIFTS: 36

Night Blindness, Congenital Stationary, Type 1h (CSNB1H)

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

Aliases & Classifications for Night Blindness, Congenital Stationary, Type 1h

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type 1h:

Name: Night Blindness, Congenital Stationary, Type 1h 57 29 6
Csnb1h 57 12 72
Congenital Stationary Night Blindness 1h 12 15
Congenital Stationary Night Blindness Type 1h 12
Night Blindness, Congenital Stationary, 1h 72

Characteristics:

OMIM®:

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

Miscellaneous:
stable visual parameters over long follow-up


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110866
OMIM® 57 617024
OMIM Phenotypic Series 57 PS310500
MeSH 44 D009755

Summaries for Night Blindness, Congenital Stationary, Type 1h

OMIM® : 57 Congenital stationary night blindness type 1H (CSNB1H) is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia (Vincent et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). (617024) (Updated 20-May-2021)

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1h, also known as csnb1h, is related to autosomal recessive congenital stationary night blindness and progressive familial heart block, type ib. An important gene associated with Night Blindness, Congenital Stationary, Type 1h is GNB3 (G Protein Subunit Beta 3), and among its related pathways/superpathways are Metabolism of proteins and Peptide ligand-binding receptors. Affiliated tissues include eye and heart, and related phenotypes are hypermetropia and photophobia

Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.

UniProtKB/Swiss-Prot : 72 Night blindness, congenital stationary, 1H: A 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. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive.

Related Diseases for Night Blindness, Congenital Stationary, Type 1h

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, Type 1h via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive congenital stationary night blindness 10.2 GNB3 CDCA3
2 progressive familial heart block, type ib 10.1 GNB5 GNB2
3 mental retardation, autosomal dominant 42 10.1 GNB2 GNB1
4 congenital stationary night blindness 10.0 GNB5 GNB3 CDCA3
5 prolonged electroretinal response suppression 9.9 RGS6 GNB5
6 ventricular fibrillation, paroxysmal familial, 1 9.8 KNG1 KCNJ5
7 myocardial stunning 9.7 KNG1 KCNJ5
8 long qt syndrome 1 9.6 KCNJ6 KCNJ5 KCNJ3
9 disease of mental health 8.6 TUBB4A SUCLG2 KNG1 KCNJ6 KCNJ3 GNB3
10 charcot-marie-tooth disease, dominant intermediate f 7.5 TUBB4A SUCLG2 RGS6 PLCB2 KNG1 KCNJ6

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Type 1h:



Diseases related to Night Blindness, Congenital Stationary, Type 1h

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

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

31
# Description HPO Frequency HPO Source Accession
1 hypermetropia 31 occasional (7.5%) HP:0000540
2 photophobia 31 HP:0000613
3 nyctalopia 31 HP:0000662
4 mild myopia 31 HP:0025573

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
hyperopia (in some patients)
night blindness (childhood onset)
photophobia (in older patients)
color vision deficits (in older patients)
mild myopia (in 1 patient)
more

Clinical features from OMIM®:

617024 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Night Blindness, Congenital Stationary, Type 1h:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.28 GNB1 GNB2 GNB4 GNB5 KCNJ3 KCNJ6

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Type 1h

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Type 1h

Genetic Tests for Night Blindness, Congenital Stationary, Type 1h

Genetic tests related to Night Blindness, Congenital Stationary, Type 1h:

# Genetic test Affiliating Genes
1 Night Blindness, Congenital Stationary, Type 1h 29 GNB3

Anatomical Context for Night Blindness, Congenital Stationary, Type 1h

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type 1h:

40
Eye, Heart

Publications for Night Blindness, Congenital Stationary, Type 1h

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

# Title Authors PMID Year
1
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. 6 57
27063057 2016

Variations for Night Blindness, Congenital Stationary, Type 1h

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNB3 NM_002075.4(GNB3):c.170_172del (p.Lys57del) Deletion Pathogenic 242985 rs879253774 GRCh37: 12:6952206-6952208
GRCh38: 12:6843042-6843044
2 GNB3 NM_002075.4(GNB3):c.200C>T (p.Ser67Phe) SNV Pathogenic 242986 rs140263599 GRCh37: 12:6952237-6952237
GRCh38: 12:6843073-6843073
3 GNB3 , CDCA3 NM_002075.4(GNB3):c.1017G>A (p.Trp339Ter) SNV Pathogenic 242984 rs879253773 GRCh37: 12:6956056-6956056
GRCh38: 12:6846892-6846892
4 GNB3 NM_002075.4(GNB3):c.495G>A (p.Thr165=) SNV Pathogenic 998197 GRCh37: 12:6952860-6952860
GRCh38: 12:6843696-6843696
5 GNB3 NM_002075.4(GNB3):c.265A>T (p.Lys89Ter) SNV Pathogenic 1029409 GRCh37: 12:6952399-6952399
GRCh38: 12:6843235-6843235
6 GNB3 NM_002075.4(GNB3):c.130_131del (p.Gln44fs) Deletion Pathogenic 1033474 GRCh37: 12:6952167-6952168
GRCh38: 12:6843003-6843004

Expression for Night Blindness, Congenital Stationary, Type 1h

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Type 1h.

Pathways for Night Blindness, Congenital Stationary, Type 1h

Pathways related to Night Blindness, Congenital Stationary, Type 1h according to GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 TUBB4A RGS6 GNB5 GNB4 GNB3 GNB2
2
Show member pathways
13.57 RGS6 KNG1 GNB5 GNB4 GNB3 GNB2
3
Show member pathways
13.53 RGS6 PLCB2 GNB5 GNB4 GNB3 GNB2
4
Show member pathways
13.37 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
5
Show member pathways
13.36 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
6
Show member pathways
13.3 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
7
Show member pathways
13.29 KNG1 GNB5 GNB4 GNB3 GNB2 GNB1
8
Show member pathways
13.26 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
9
Show member pathways
13.13 PLCB2 KCNJ3 GNB5 GNB4 GNB3 GNB2
10
Show member pathways
13.09 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
11
Show member pathways
13.08 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
12
Show member pathways
13.08 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
13
Show member pathways
13.03 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
14
Show member pathways
13.02 GNB5 GNB4 GNB3 GNB2 GNB1
15
Show member pathways
12.99 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
16
Show member pathways
12.97 GNB5 GNB4 GNB3 GNB2 GNB1
17
Show member pathways
12.96 GNB5 GNB4 GNB3 GNB2 GNB1
18
Show member pathways
12.95 PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
19
Show member pathways
12.94 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
20
Show member pathways
12.94 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
21
Show member pathways
12.91 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
22
Show member pathways
12.91 PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
23
Show member pathways
12.9 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
24 12.9 PLCB2 KNG1 GNB5 GNB4 GNB3 GNB2
25
Show member pathways
12.89 GNB5 GNB4 GNB3 GNB2 GNB1
26
Show member pathways
12.87 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
27
Show member pathways
12.85 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
28
Show member pathways
12.82 GNB5 GNB4 GNB3 GNB2 GNB1
29
Show member pathways
12.8 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
30
Show member pathways
12.78 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
31
Show member pathways
12.72 RGS6 PLCB2 GNB5 GNB4 GNB3 GNB2
32
Show member pathways
12.67 GNB5 GNB4 GNB3 GNB2 GNB1
33
Show member pathways
12.66 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
34
Show member pathways
12.64 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
35
Show member pathways
12.61 RGS6 PLCB2 GNB5 GNB4 GNB3 GNB2
36
Show member pathways
12.53 GNB5 GNB4 GNB3 GNB2 GNB1
37
Show member pathways
12.5 GNB5 GNB4 GNB3 GNB2 GNB1
38 12.5 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
39
Show member pathways
12.49 PLCB2 KCNJ6 KCNJ5 KCNJ3
40
Show member pathways
12.49 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
41
Show member pathways
12.49 PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
42
Show member pathways
12.47 TUBB4A GNB5 GNB4 GNB3 GNB2 GNB1
43
Show member pathways
12.44 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
44
Show member pathways
12.42 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
45
Show member pathways
12.41 RGS6 KCNJ5 KCNJ3 GNB5 GNB4 GNB3
46
Show member pathways
12.4 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
47
Show member pathways
12.39 TUBB4A RGS6 GNB5 GNB4 GNB3 GNB2
48
Show member pathways
12.38 GNB5 GNB4 GNB3 GNB2 GNB1
49
Show member pathways
12.34 GNB5 GNB4 GNB3 GNB2 GNB1
50
Show member pathways
12.32 PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4

GO Terms for Night Blindness, Congenital Stationary, Type 1h

Cellular components related to Night Blindness, Congenital Stationary, Type 1h according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.96 SUCLG2 RGS6 KNG1 KCNJ6 KCNJ5 KCNJ3
2 cell body GO:0044297 9.33 GNB3 GNB2 GNB1
3 voltage-gated potassium channel complex GO:0008076 9.13 KCNJ6 KCNJ5 KCNJ3
4 heterotrimeric G-protein complex GO:0005834 9.02 GNB5 GNB4 GNB3 GNB2 GNB1

Biological processes related to Night Blindness, Congenital Stationary, Type 1h according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.61 KCNJ6 KCNJ5 KCNJ3
2 potassium ion transport GO:0006813 9.58 KCNJ6 KCNJ5 KCNJ3
3 G protein-coupled receptor signaling pathway GO:0007186 9.56 RGS6 PLCB2 KNG1 GNB5 GNB4 GNB3
4 regulation of heart rate by cardiac conduction GO:0086091 9.48 KCNJ5 KCNJ3
5 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.46 PLCB2 GNB1
6 potassium ion import across plasma membrane GO:1990573 9.43 KCNJ6 KCNJ5 KCNJ3
7 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.37 KCNJ5 KCNJ3
8 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.32 KCNJ5 KCNJ3
9 ventricular cardiac muscle cell membrane repolarization GO:0099625 9.16 KCNJ5 KCNJ3
10 protein folding GO:0006457 9.02 GNB5 GNB4 GNB3 GNB2 GNB1

Molecular functions related to Night Blindness, Congenital Stationary, Type 1h according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.34 TUBB4A SUCLG2 RGS6 PLCB2 KNG1 KCNJ6
2 protein-containing complex binding GO:0044877 9.73 SUCLG2 GNB4 GNB2 GNB1
3 voltage-gated ion channel activity GO:0005244 9.63 KCNJ6 KCNJ5 KCNJ3
4 GTPase activity GO:0003924 9.63 TUBB4A RGS6 GNB5 GNB3 GNB2 GNB1
5 GTPase binding GO:0051020 9.5 GNB3 GNB2 GNB1
6 spectrin binding GO:0030507 9.48 GNB3 GNB1
7 inward rectifier potassium channel activity GO:0005242 9.43 KCNJ6 KCNJ5 KCNJ3
8 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.4 KCNJ5 KCNJ3
9 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.37 KCNJ5 KCNJ3
10 G-protein activated inward rectifier potassium channel activity GO:0015467 9.13 KCNJ6 KCNJ5 KCNJ3
11 G-protein gamma-subunit binding GO:0031682 9.02 GNB5 GNB4 GNB3 GNB2 GNB1

Sources for Night Blindness, Congenital Stationary, Type 1h

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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