WSMN
MCID: WSM002
MIFTS: 32
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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:58
early-onset parkinsonism-intellectual disability syndrome
Inheritance: X-linked recessive; OMIM:56
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:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases
Orphanet: 58
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2379 Definition Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures . It has been described in three generations of one family. Transmission is X-linked , and the gene is located on chromosomal region Xq27.3-qter. Visit the Orphanet disease page for more resources.
MalaCards based summary : Waisman Syndrome, also known as early-onset parkinsonism-intellectual disability syndrome, is related to white sponge nevus 1 and pettigrew 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 intellectual disability and macrocephaly Disease Ontology : 12 A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has material basis in hemizygous or homozygous mutation in RAB39B on chromosome Xq28. OMIM : 56 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) UniProtKB/Swiss-Prot : 73 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:(show all 19)
Graphical network of the top 20 diseases related to Waisman Syndrome:![]() |
Human phenotypes related to Waisman Syndrome:58 31 (show all 21)
Symptoms via clinical synopsis from OMIM:56Clinical 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:73
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Search
GEO
for disease gene expression data for Waisman Syndrome.
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