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RP77
MCID: RTN192
MIFTS: 21
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Retinitis Pigmentosa 77 (RP77)
Categories:
Eye diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Retinitis Pigmentosa 77:Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset of symptoms ranges from early childhood to age 20 years HPO:32Classifications:
ICD10:
33
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UniProtKB/Swiss-Prot
:
75
Retinitis pigmentosa 77: A form of retinitis pigmentosa, 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. RP77 inheritance is autosomal recessive.
MalaCards based summary : Retinitis Pigmentosa 77, is also known as rp77. An important gene associated with Retinitis Pigmentosa 77 is REEP6 (Receptor Accessory Protein 6). Affiliated tissues include bone and eye, and related phenotypes are reduced visual acuity and nyctalopia Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the REEP6 gene on chromosome 19p13.
Description from OMIM:
617304
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617304Human phenotypes related to Retinitis Pigmentosa 77:32 (show all 6)
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MalaCards organs/tissues related to Retinitis Pigmentosa 77:41
Bone,
Eye
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Genes related to Retinitis Pigmentosa 77 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 77:75
ClinVar genetic disease variations for Retinitis Pigmentosa 77:6
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Search
GEO
for disease gene expression data for Retinitis Pigmentosa 77.
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