MCID: NGH010
MIFTS: 23

Night Blindness, Congenital Stationary, Autosomal Dominant 2

Categories: Genetic diseases, Eye 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 57 75 13 73
Hemeralopia 75 29 73
Csnbad2 57 12 75
Congenital Stationary Night Blindness, Autosomal Dominant 2 29 6
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 2 40
Congenital Stationary Night Blindness Autosomal Dominant 2 12
Night Blindness, Congenital Stationary, Rambusch Type 57
Rambusch Type Congenital Stationary Night Blindness 12
Congenital Stationary Night Blindness Rambusch Type 75
Hemeralopia Congenital Essential 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (4p16.3)


HPO:

32
night blindness, congenital stationary, autosomal dominant 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 163500
Disease Ontology 12 DOID:0110863
MedGen 42 C1876182
MeSH 44 D009755
SNOMED-CT via HPO 69 263681008 193687000 232061009

Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 2

UniProtKB/Swiss-Prot : 75 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 hemeralopia, congenital essential and hemeralopia, familial, and has symptoms including photophobia, amaurosis fugax and micropsia. 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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
congenital night blindness
normal fundi

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


Clinical features from OMIM:

163500

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

32
# Description HPO Frequency HPO Source Accession
1 congenital stationary night blindness 32 HP:0007642

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


photophobia, amaurosis fugax, micropsia, metamorphopsia

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 29 PDE6B
2 Hemeralopia 29

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

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

41
Eye

Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 2

Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 2

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

75
# 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 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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