WSMN
MCID: WSM002
MIFTS: 27
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Waisman Syndrome (WSMN)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Waisman Syndrome:
Characteristics:Orphanet epidemiological data:59
early-onset parkinsonism-intellectual disability syndrome
Inheritance: X-linked recessive; OMIM:57
Inheritance:
x-linked recessive
Miscellaneous:
two families have been reported (last curated february 2016) variable age of onset of parkinsonism (first decade to adulthood) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases |
OMIM
:
57
Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (summary by Wilson et al., 2014). (311510)
MalaCards based summary : Waisman Syndrome, also known as parkinsonism, early-onset, with mental retardation, is related to white sponge nevus 1 and early-onset parkinsonism-intellectual disability syndrome, and has symptoms including tremor, bradykinesia and muscle rigidity. An important gene associated with Waisman Syndrome is RAB39B (RAB39B, Member RAS Oncogene Family). Related phenotypes are dementia and macrocephaly UniProtKB/Swiss-Prot : 74 Waisman syndrome: A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease. |
Diseases related to Waisman Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Waisman Syndrome:![]() |
Human phenotypes related to Waisman Syndrome:32 59 (show all 20)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:311510UMLS symptoms related to Waisman Syndrome:tremor, bradykinesia, muscle rigidity |
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Articles related to Waisman Syndrome:
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ClinVar genetic disease variations for Waisman Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Waisman Syndrome:74
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Search
GEO
for disease gene expression data for Waisman Syndrome.
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