Parkes Weber Syndrome (PKWS)

Alias:
Parkes-Weber Syndrome
Pkws
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Parkes Weber Syndrome, also known as parkes-weber syndrome, is related to capillary malformation-arteriovenous malformation 1 and klippel-trenaunay-weber syndrome. An important gene associated with Parkes Weber Syndrome is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways are Nervous system development and Semaphorin interactions. The drug GTPase-Activating Proteins has been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are arteriovenous malformation and abnormality of the lower limb
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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3
29
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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