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MCID: RTN180
MIFTS: 19
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Retinitis Pigmentosa 74
Categories:
Genetic diseases, Eye diseases, Rare diseases
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MalaCards integrated aliases for Retinitis Pigmentosa 74:Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
moroccan jewish and ashkenazi jewish families have been described no extraocular findings HPO:32Classifications:
ICD10:
33
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UniProtKB/Swiss-Prot
:
75
Retinitis pigmentosa 74: 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 74, is also known as rp74. An important gene associated with Retinitis Pigmentosa 74 is BBS2 (Bardet-Biedl Syndrome 2). Affiliated tissues include eye, and related phenotypes are rod-cone dystrophy and optic disc pallor Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the BBS2 gene on chromosome 16q13.
Description from OMIM:
616562
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616562Human phenotypes related to Retinitis Pigmentosa 74:32
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MalaCards organs/tissues related to Retinitis Pigmentosa 74:41
Eye
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Genes related to Retinitis Pigmentosa 74 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 74:75
ClinVar genetic disease variations for Retinitis Pigmentosa 74:6
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Search
GEO
for disease gene expression data for Retinitis Pigmentosa 74.
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