RDGCA
MCID: RTN170
MIFTS: 19

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 56 73 36 29 6 71
Rdgca 56 73
Dystrophy, Retinal, with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 39
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Anomalies 58
Retinal Dystrophy with Inner Nuclear Layer and Ganglion Cell Anomalies 58

Characteristics:

Orphanet epidemiological data:

58
retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
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:

31
retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM 56 616079
KEGG 36 H02288
MeSH 43 D058499
ICD10 via Orphanet 33 H35.5
Orphanet 58 ORPHA397758
UMLS 71 C4015146

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

UniProtKB/Swiss-Prot : 73 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 retina, and related phenotypes are nyctalopia and photophobia

KEGG : 36 Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA) is an autosomal dominant retinal dystrophy with progressive loss of vision. It has been suggested that a missense mutation in ITM2B causes RDGCA.

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 occasional (7.5%) HP:0000662
2 photophobia 31 HP:0000613
3 optic disc pallor 31 HP:0000543
4 retinal dystrophy 31 HP:0000556
5 central scotoma 31 HP:0000603

Symptoms via clinical synopsis from OMIM:

56
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 29 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:

40
Eye, Retina

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 PMID 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. 6 56
24026677 2014

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

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITM2B NM_021999.5(ITM2B):c.782A>C (p.Glu261Ala)SNV Pathogenic 157606 rs606231283 13:48835341-48835341 13:48261205-48261205

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

73
# Symbol AA change Variation ID SNP ID
1 ITM2B p.Glu261Ala VAR_072434 rs606231283

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
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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