MCID: RTN170
MIFTS: 17

Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities

Categories: Genetic diseases, Eye 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 57 75 29 6 73
Rdgca 57 75
Dystrophy, Retinal, with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 40
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Anomalies 59
Retinal Dystrophy with Inner Nuclear Layer and Ganglion Cell Anomalies 59

Characteristics:

Orphanet epidemiological data:

59
retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
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:

32
retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 616079
Orphanet 59 ORPHA397758
ICD10 via Orphanet 34 H35.5
MeSH 44 D058499
UMLS 73 C4015146

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

UniProtKB/Swiss-Prot : 75 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 optic disc pallor and retinal dystrophy

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...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia, mild
progressive loss of central vision
night blindness (in some patients)
relative central scotoma
optic disc pallor
more

Clinical features from OMIM:

616079

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

32
# Description HPO Frequency HPO Source Accession
1 optic disc pallor 32 HP:0000543
2 retinal dystrophy 32 HP:0000556
3 photophobia 32 HP:0000613
4 nyctalopia 32 occasional (7.5%) HP:0000662

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:

41
Eye

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

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:

75
# 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_021999.4(ITM2B): c.782A> C (p.Glu261Ala) single nucleotide variant Pathogenic rs606231283 GRCh38 Chromosome 13, 48261205: 48261205
2 ITM2B NM_021999.4(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 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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