Klippel-Trenaunay-Weber Syndrome (KTS)

Alias:
Klippel-Trenaunay Syndrome
Angioosteohypertrophic Syndrome
Kts
Klippel-Trénaunay-Weber Syndrome
Angioosteohypertrophy Syndrome
Haemangiectatic Hypertrophy
Congenital Dysplastic Angiopathy
Angio-Osteohypertrophy Syndrome
Klippel-Trenaunay Disease
Weber Klippel Trenaunay
Ktw Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Klippel-Trenaunay-Weber Syndrome, also known as klippel-trenaunay syndrome, is related to weber syndrome and hemangioma. An important gene associated with Klippel-Trenaunay-Weber Syndrome is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Temsirolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are hemangioma and venous insufficiency
Related ID:
MESH:D007715
ICD11:1561120378

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
1-9/1000000
37
398
30

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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