CSNB1H
MCID: NGH024
MIFTS: 35

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

Categories: Eye diseases, Genetic diseases, Mental 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 56 29 6
Csnb1h 56 12 73
Congenital Stationary Night Blindness 1h 12 15
Congenital Stationary Night Blindness Type 1h 12
Night Blindness, Congenital Stationary, 1h 73

Characteristics:

OMIM:

56
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 56 617024
OMIM Phenotypic Series 56 PS310500
MeSH 43 D009755

Summaries for Night Blindness, Congenital Stationary, Type 1h

OMIM : 56 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)

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1h, also known as csnb1h, is related to pyomyositis and malignant renovascular hypertension. 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 Pathways in cancer and Development Angiotensin activation of ERK. Affiliated tissues include eye, heart and kidney, and related phenotypes are hypermetropia and nyctalopia

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 : 73 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:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 pyomyositis 10.1 NR4A1 EDNRB
2 malignant renovascular hypertension 9.9 EDNRB EDN1
3 malignant hypertensive renal disease 9.9 EDNRB EDN1
4 acute poststreptococcal glomerulonephritis 9.9 EDNRB EDN1
5 chronic pulmonary heart disease 9.8 EDNRB EDN1
6 hepatopulmonary syndrome 9.8 EDNRB EDN1
7 salivary gland disease 9.8 NR4A1 EDNRB
8 sympathetic ophthalmia 9.6 VCAM1 TNFRSF1A
9 background diabetic retinopathy 9.6 VCAM1 EDN1
10 stroke, ischemic 9.6 TNFRSF1A GNB3 EDNRB
11 acute chest syndrome 9.5 VCAM1 EDN1
12 optic nerve disease 9.5 JUN EDNRB EDN1
13 impotence 9.4 EDNRB EDN1
14 coronary artery anomaly 9.2 VCAM1 TNFRSF1A EDN1
15 autosomal dominant polycystic kidney disease 8.9 VCAM1 JUN EDNRB EDN1
16 body mass index quantitative trait locus 11 8.8 VCAM1 JUN GNB3 EDN1
17 myocardial infarction 8.7 VCAM1 TNFRSF1A GNB3 EDN1
18 hypertension, essential 8.6 VCAM1 JUN GNB3 EDNRB EDN1
19 diabetes mellitus, noninsulin-dependent 8.6 VCAM1 TNFRSF1A JUN GNB3 EDN1

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 nyctalopia 31 HP:0000662
3 photophobia 31 HP:0000613
4 mild myopia 31 HP:0025573

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 EDN1 EDNRB JUN NR4A1 TNFRSF1A VCAM1
2 mortality/aging MP:0010768 9.17 EDN1 EDNRB GNB3 JUN NR4A1 TNFRSF1A

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, Kidney, Salivary Gland

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. 56 6
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 GRCh37 Pos GRCh38 Pos
1 GNB3 NM_002075.4(GNB3):c.1017G>A (p.Trp339Ter)SNV Pathogenic 242984 rs879253773 12:6956056-6956056 12:6846892-6846892
2 GNB3 NM_002075.4(GNB3):c.170_172del (p.Lys57del)deletion Pathogenic 242985 rs879253774 12:6952206-6952208 12:6843042-6843044
3 GNB3 NM_002075.4(GNB3):c.200C>T (p.Ser67Phe)SNV Pathogenic 242986 rs140263599 12:6952237-6952237 12:6843073-6843073

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 all 18)
# Super pathways Score Top Affiliating Genes
1 12.46 JUN GNB3 EDNRB EDN1
2
Show member pathways
12.38 JUN GNB3 EDNRB EDN1
3
Show member pathways
12.3 JUN GNB3 EDNRB EDN1
4
Show member pathways
12.27 TNFRSF1A JUN GNB3
5 12.24 VCAM1 TNFRSF1A NR4A1
6 11.54 VCAM1 JUN EDN1
7 11.4 VCAM1 TNFRSF1A JUN EDN1
8 11.32 TNFRSF1A JUN
9 11.3 JUN EDN1
10 11.24 TNFRSF1A JUN
11
Show member pathways
11.23 VCAM1 TNFRSF1A JUN
12
Show member pathways
11.22 TNFRSF1A JUN
13 11.15 TNFRSF1A JUN
14 11.06 JUN EDNRB EDN1
15 11.03 EDNRB EDN1
16 10.97 VCAM1 TNFRSF1A JUN EDN1
17 10.95 EDNRB EDN1
18 10.85 JUN EDN1

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

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.7 TNFRSF1A EDNRB EDN1
2 aging GO:0007568 9.67 VCAM1 JUN EDNRB
3 positive regulation of smooth muscle cell proliferation GO:0048661 9.58 JUN EDN1
4 sensory perception of pain GO:0019233 9.58 EDNRB EDN1
5 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.57 JUN EDN1
6 response to nicotine GO:0035094 9.56 VCAM1 EDN1
7 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.55 VCAM1 NR4A1
8 regulation of sensory perception of pain GO:0051930 9.54 EDNRB EDN1
9 membrane depolarization GO:0051899 9.51 JUN EDN1
10 regulation of pH GO:0006885 9.48 EDNRB EDN1
11 vasoconstriction GO:0042310 9.46 EDNRB EDN1
12 response to muscle stretch GO:0035994 9.43 JUN EDN1
13 positive regulation of renal sodium excretion GO:0035815 9.4 EDNRB EDN1
14 positive regulation of urine volume GO:0035810 9.37 EDNRB EDN1
15 regulation of blood pressure GO:0008217 9.33 GNB3 EDNRB EDN1
16 epithelial fluid transport GO:0042045 9.32 EDNRB EDN1
17 negative regulation of cellular protein metabolic process GO:0032269 9.26 EDNRB EDN1
18 vein smooth muscle contraction GO:0014826 8.96 EDNRB EDN1
19 response to lipopolysaccharide GO:0032496 8.92 VCAM1 JUN EDNRB EDN1

Sources for Night Blindness, Congenital Stationary, Type 1h

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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