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RP72
MCID: RTN178
MIFTS: 31
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Retinitis Pigmentosa 72 (RP72)
Categories:
Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Retinitis Pigmentosa 72:
Characteristics:OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
variable age at onset of symptoms, from second to fifth decade of life HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Ear diseases
ICD10:
32
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UniProtKB/Swiss-Prot :
72
Retinitis pigmentosa 72: 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 72, also known as rp72, is related to retinitis pigmentosa 69 and retinitis pigmentosa 70. An important gene associated with Retinitis Pigmentosa 72 is ZNF408 (Zinc Finger Protein 408). The drugs Gemcitabine and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone, and related phenotypes are peripapillary atrophy and photophobia Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the ZNF408 gene on chromosome 11p11. |
Human phenotypes related to Retinitis Pigmentosa 72:31 (show all 8)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:616469 (Updated 20-May-2021)GenomeRNAi Phenotypes related to Retinitis Pigmentosa 72 according to GeneCards Suite gene sharing:26 (show all 11)
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Drugs for Retinitis Pigmentosa 72 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
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MalaCards organs/tissues related to Retinitis Pigmentosa 72:40
Eye,
Retina,
Bone
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Articles related to Retinitis Pigmentosa 72:
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Genes related to Retinitis Pigmentosa 72 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Retinitis Pigmentosa 72:6
UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 72:72
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Search
GEO
for disease gene expression data for Retinitis Pigmentosa 72.
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