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PSNP2
MCID: SPR049
MIFTS: 19
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Supranuclear Palsy, Progressive, 2 (PSNP2)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Supranuclear Palsy, Progressive, 2:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
genetic heterogeneity (see psnp1 ) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases |
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MalaCards based summary :
Supranuclear Palsy, Progressive, 2, is also known as psnp2, and has symptoms including photophobia, bradykinesia and forgetful. An important gene associated with Supranuclear Palsy, Progressive, 2 is PSNP2 (Supranuclear Palsy, Progressive, 2). Affiliated tissues include cerebellum and brain, and related phenotypes are diplopia and dysarthria
More information from OMIM:
609454
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Diseases in the Supranuclear Palsy, Progressive, 1 family:
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Human phenotypes related to Supranuclear Palsy, Progressive, 2:31 (show all 26)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:609454 (Updated 05-Mar-2021)UMLS symptoms related to Supranuclear Palsy, Progressive, 2:photophobia, bradykinesia, forgetful, muscle rigidity, poor mobility, static tremor |
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MalaCards organs/tissues related to Supranuclear Palsy, Progressive, 2:40
Cerebellum,
Brain
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Articles related to Supranuclear Palsy, Progressive, 2:
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Genes related to Supranuclear Palsy, Progressive, 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Supranuclear Palsy, Progressive, 2.
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