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MCID: RTN114
MIFTS: 27
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Retinitis Pigmentosa 58
Categories:
Genetic diseases, Eye diseases, Rare diseases
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MalaCards integrated aliases for Retinitis Pigmentosa 58:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
one consanguineous pakistani family has been described (last curated october 2016) HPO:32Classifications:
ICD10:
33
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UniProtKB/Swiss-Prot
:
75
Retinitis pigmentosa 58: 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 58, also known as rp58, is related to neuronitis. An important gene associated with Retinitis Pigmentosa 58 is ZNF513 (Zinc Finger Protein 513). Affiliated tissues include bone, retina and eye, and related phenotypes are nyctalopia and rod-cone dystrophy Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the ZNF513 gene on chromosome 2p23.
Description from OMIM:
613617
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613617Human phenotypes related to Retinitis Pigmentosa 58:32 (show all 8)
GenomeRNAi Phenotypes related to Retinitis Pigmentosa 58 according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Retinitis Pigmentosa 58:41
Bone,
Retina,
Eye
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Genes related to Retinitis Pigmentosa 58 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 58:75
ClinVar genetic disease variations for Retinitis Pigmentosa 58:6
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Search
GEO
for disease gene expression data for Retinitis Pigmentosa 58.
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Biological processes related to Retinitis Pigmentosa 58 according to GeneCards Suite gene sharing:
Molecular functions related to Retinitis Pigmentosa 58 according to GeneCards Suite gene sharing:
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