CSNBAD2
MCID: NGH010
MIFTS: 26

Night Blindness, Congenital Stationary, Autosomal Dominant 2 (CSNBAD2)

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

Aliases & Classifications for Night Blindness, Congenital Stationary, Autosomal Dominant 2

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Autosomal Dominant 2:

Name: Night Blindness, Congenital Stationary, Autosomal Dominant 2 58 76 13 74
Hemeralopia 76 30 74
Csnbad2 58 12 76
Congenital Stationary Night Blindness, Autosomal Dominant 2 30 6
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 2 41
Congenital Stationary Night Blindness Autosomal Dominant 2 12
Night Blindness, Congenital Stationary, Rambusch Type 58
Rambusch Type Congenital Stationary Night Blindness 12
Congenital Stationary Night Blindness Rambusch Type 76
Hemeralopia Congenital Essential 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant (4p16.3)


HPO:

33
night blindness, congenital stationary, autosomal dominant 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110863
OMIM 58 163500
MeSH 45 D009755
MedGen 43 C1876182
SNOMED-CT via HPO 70 193687000 232061009 263681008

Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 2

UniProtKB/Swiss-Prot : 76 Night blindness, congenital stationary, autosomal dominant 2: 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 2, also known as hemeralopia, is related to night blindness, congenital stationary, type 1a and congenital stationary night blindness, and has symptoms including photophobia, amaurosis fugax and metamorphopsia. An important gene associated with Night Blindness, Congenital Stationary, Autosomal Dominant 2 is PDE6B (Phosphodiesterase 6B). Affiliated tissues include eye, and related phenotype is congenital stationary night blindness.

Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal dominant inhertance that has material basis in heterozygous mutation in the PDE6B gene on chromosome 4p16.

Description from OMIM: 163500

Related Diseases for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 2:



Diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 2

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Human phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 2:

33
# Description HPO Frequency HPO Source Accession
1 congenital stationary night blindness 33 HP:0007642

Symptoms via clinical synopsis from OMIM:

58
Eyes:
congenital night blindness
normal fundi

Lab:
mutant rhodopsin or beta subunit of retinal rod cgmp phosphodiesterase

Clinical features from OMIM:

163500

UMLS symptoms related to Night Blindness, Congenital Stationary, Autosomal Dominant 2:


photophobia, amaurosis fugax, metamorphopsia, micropsia

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Genetic Tests for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Genetic tests related to Night Blindness, Congenital Stationary, Autosomal Dominant 2:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Autosomal Dominant 2 30 PDE6B
2 Hemeralopia 30

Anatomical Context for Night Blindness, Congenital Stationary, Autosomal Dominant 2

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Autosomal Dominant 2:

42
Eye

Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Articles related to Night Blindness, Congenital Stationary, Autosomal Dominant 2:

# Title Authors Year
1
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. ( 17044014 )
2007
2
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. ( 8075643 )
1994

Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 2

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 2:

76
# Symbol AA change Variation ID SNP ID
1 PDE6B p.His258Asn VAR_009289 rs121918582

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE6B NM_000283.3(PDE6B): c.772C> A (p.His258Asn) single nucleotide variant Pathogenic rs121918582 GRCh37 Chromosome 4, 647701: 647701
2 PDE6B NM_000283.3(PDE6B): c.772C> A (p.His258Asn) single nucleotide variant Pathogenic rs121918582 GRCh38 Chromosome 4, 653912: 653912

Expression for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Autosomal Dominant 2.

Pathways for Night Blindness, Congenital Stationary, Autosomal Dominant 2

GO Terms for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Sources for Night Blindness, Congenital Stationary, Autosomal Dominant 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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