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MCID: RTN178
MIFTS: 24
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Retinitis Pigmentosa 72
Categories:
Genetic diseases, Eye diseases, Rare diseases
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MalaCards integrated aliases for Retinitis Pigmentosa 72:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
variable age at onset of symptoms, from second to fifth decade of life HPO:32Classifications:
ICD10:
33
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UniProtKB/Swiss-Prot
:
75
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 50 and retinitis pigmentosa 26. An important gene associated with Retinitis Pigmentosa 72 is ZNF408 (Zinc Finger Protein 408). Affiliated tissues include bone and 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 ZNF408 gene on chromosome 11p11.
Description from OMIM:
616469
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616469Human phenotypes related to Retinitis Pigmentosa 72:32 (show all 7)
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MalaCards organs/tissues related to Retinitis Pigmentosa 72:41
Bone,
Eye
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Genes related to Retinitis Pigmentosa 72 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 72:75
ClinVar genetic disease variations for Retinitis Pigmentosa 72:6
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Search
GEO
for disease gene expression data for Retinitis Pigmentosa 72.
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