CSNB1H
MCID: NGH024
MIFTS: 20

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 57 29 6
Csnb1h 57 12 75
Congenital Stationary Night Blindness Type 1h 12
Night Blindness, Congenital Stationary, 1h 75
Congenital Stationary Night Blindness 1h 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
stable visual parameters over long follow-up


HPO:

32
night blindness, congenital stationary, type 1h:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617024
Disease Ontology 12 DOID:0110866
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)

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1h, is also known as csnb1h. An important gene associated with Night Blindness, Congenital Stationary, Type 1h is GNB3 (G Protein Subunit Beta 3). Affiliated tissues include eye, and related phenotypes are photophobia 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 : 75 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.

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 nyctalopia 32 HP:0000662
3 hypermetropia 32 occasional (7.5%) HP:0000540
4 mild myopia 32 HP:0025573

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:

41
Eye

Publications for Night Blindness, Congenital Stationary, Type 1h

Variations for Night Blindness, Congenital Stationary, Type 1h

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNB3 NM_002075.3(GNB3): c.1017G> A (p.Trp339Ter) single nucleotide variant Pathogenic rs879253773 GRCh37 Chromosome 12, 6956056: 6956056
2 GNB3 NM_002075.3(GNB3): c.1017G> A (p.Trp339Ter) single nucleotide variant Pathogenic rs879253773 GRCh38 Chromosome 12, 6846892: 6846892
3 GNB3 NM_002075.3(GNB3): c.170_172delAGA (p.Lys57del) deletion Pathogenic rs879253774 GRCh37 Chromosome 12, 6952207: 6952209
4 GNB3 NM_002075.3(GNB3): c.170_172delAGA (p.Lys57del) deletion Pathogenic rs879253774 GRCh38 Chromosome 12, 6843043: 6843045
5 GNB3 NM_002075.3(GNB3): c.200C> T (p.Ser67Phe) single nucleotide variant Pathogenic rs140263599 GRCh37 Chromosome 12, 6952237: 6952237
6 GNB3 NM_002075.3(GNB3): c.200C> T (p.Ser67Phe) single nucleotide variant Pathogenic rs140263599 GRCh38 Chromosome 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

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

Sources for Night Blindness, Congenital Stationary, Type 1h

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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