RP35
MCID: RTN064
MIFTS: 36
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Retinitis Pigmentosa 35 (RP35)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Retinitis Pigmentosa 35:
Characteristics:OMIM:56
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
allelic with cone-rod dystrophy 10 HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
32
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UniProtKB/Swiss-Prot :
73
Retinitis pigmentosa 35: 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 35, also known as rp35, is related to retinitis pigmentosa 25 and cone-rod dystrophy 15. An important gene associated with Retinitis Pigmentosa 35 is SEMA4A (Semaphorin 4A), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, bone and retina, and related phenotypes are blindness and abnormality of skin pigmentation Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the SEMA4A gene on chromosome 1q22. |
Human phenotypes related to Retinitis Pigmentosa 35:31
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MalaCards organs/tissues related to Retinitis Pigmentosa 35:40
Eye,
Bone,
Retina,
Skin,
Cervix,
Lung
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Articles related to Retinitis Pigmentosa 35:(show all 17)
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ClinVar genetic disease variations for Retinitis Pigmentosa 35:6
UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 35:73
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Search
GEO
for disease gene expression data for Retinitis Pigmentosa 35.
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Cellular components related to Retinitis Pigmentosa 35 according to GeneCards Suite gene sharing:
Biological processes related to Retinitis Pigmentosa 35 according to GeneCards Suite gene sharing:
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