RDGCA
MCID: RTN170
MIFTS: 18

Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities (RDGCA)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion...

MalaCards integrated aliases for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities:

Name: Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 58 76 38 30 6 74
Rdgca 58 76
Dystrophy, Retinal, with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 41
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Anomalies 60
Retinal Dystrophy with Inner Nuclear Layer and Ganglion Cell Anomalies 60

Characteristics:

Orphanet epidemiological data:

60
retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset of disease between 25 and 40 years of age
based on report of 1 3-generation family (last curated november 2014)


HPO:

33
retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 616079
KEGG 38 H02288
MeSH 45 D058499
ICD10 via Orphanet 35 H35.5
Orphanet 60 ORPHA397758
UMLS 74 C4015146

Summaries for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion...

UniProtKB/Swiss-Prot : 76 Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities: An autosomal dominant retinal dystrophy characterized by inner retinal dysfunction in association with ganglion cell abnormalities. Clinical features include mild photophobia, progressive loss of central vision, night blindness, and hyperreflectivity of nerve and ganglion cell layers.

MalaCards based summary : Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities, is also known as rdgca. An important gene associated with Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities is ITM2B (Integral Membrane Protein 2B). Affiliated tissues include eye, and related phenotypes are nyctalopia and photophobia

Description from OMIM: 616079

Related Diseases for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion...

Symptoms & Phenotypes for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion...

Human phenotypes related to Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities:

33
# Description HPO Frequency HPO Source Accession
1 nyctalopia 33 occasional (7.5%) HP:0000662
2 photophobia 33 HP:0000613
3 central scotoma 33 HP:0000603
4 optic disc pallor 33 HP:0000543
5 retinal dystrophy 33 HP:0000556

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
optic disc pallor
photophobia, mild
night blindness (in some patients)
progressive loss of central vision
relative central scotoma
more

Clinical features from OMIM:

616079

Drugs & Therapeutics for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion...

Search Clinical Trials , NIH Clinical Center for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities

Genetic Tests for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion...

Genetic tests related to Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities:

# Genetic test Affiliating Genes
1 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 30 ITM2B

Anatomical Context for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion...

MalaCards organs/tissues related to Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities:

42
Eye

Publications for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion...

Articles related to Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities:

# Title Authors Year
1
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. ( 24026677 )
2014

Variations for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion...

UniProtKB/Swiss-Prot genetic disease variations for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities:

76
# Symbol AA change Variation ID SNP ID
1 ITM2B p.Glu261Ala VAR_072434 rs606231283

ClinVar genetic disease variations for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ITM2B NM_021999.5(ITM2B): c.782A> C (p.Glu261Ala) single nucleotide variant Pathogenic rs606231283 GRCh38 Chromosome 13, 48261205: 48261205
2 ITM2B NM_021999.5(ITM2B): c.782A> C (p.Glu261Ala) single nucleotide variant Pathogenic rs606231283 GRCh37 Chromosome 13, 48835341: 48835341

Expression for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion...

Search GEO for disease gene expression data for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities.

Pathways for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion...

GO Terms for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion...

Sources for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion...

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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