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MCID: DFN145
MIFTS: 12
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Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities
Categories:
Reproductive diseases, Ear diseases
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MalaCards integrated aliases for Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities:Characteristics:HPO:32
deafness, cataract, retinitis pigmentosa, and sperm abnormalities:
Inheritance x-linked recessive inheritance Classifications: |
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MalaCards based summary
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Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities An important gene associated with Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities is DFCTRPS (Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities). Affiliated tissues include skin, and related phenotypes are hearing impairment and rod-cone dystrophy
Description from OMIM:
300719
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300719Human phenotypes related to Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities:32
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MalaCards organs/tissues related to Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities:41
Skin
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Genes related to Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities.
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