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MCID: RTN170
MIFTS: 17
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Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities
Categories:
Genetic diseases, Eye diseases, Rare diseases
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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
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:
ICD10:
34
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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
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616079Human phenotypes related to Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities:32
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MalaCards organs/tissues related to Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities:41
Eye
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Genes related to Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities:75
ClinVar genetic disease variations for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities:6
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Search
GEO
for disease gene expression data for Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities.
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