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MCID: RTN157
MIFTS: 22
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Retinitis Pigmentosa 37
Categories:
Genetic diseases, Eye diseases, Rare diseases
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MalaCards integrated aliases for Retinitis Pigmentosa 37:
Characteristics:OMIM:57
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
allelic to enhanced s-cone syndrome onset of symptoms age 5-30 HPO:32Classifications:
ICD10:
33
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UniProtKB/Swiss-Prot
:
75
Retinitis pigmentosa 37: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
MalaCards based summary : Retinitis Pigmentosa 37, is also known as rp37, and has symptoms including photophobia An important gene associated with Retinitis Pigmentosa 37 is NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3). Affiliated tissues include bone and eye, and related phenotypes are rod-cone dystrophy and cataract Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the NR2E3 gene on chromosome 15q23.
Description from OMIM:
611131
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:611131Human phenotypes related to Retinitis Pigmentosa 37:32 (show all 9)
UMLS symptoms related to Retinitis Pigmentosa 37:photophobia |
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MalaCards organs/tissues related to Retinitis Pigmentosa 37:41
Bone,
Eye
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Genes related to Retinitis Pigmentosa 37 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 37:75
ClinVar genetic disease variations for Retinitis Pigmentosa 37:6
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Search
GEO
for disease gene expression data for Retinitis Pigmentosa 37.
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