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Term ID: | 6116 |
Name: | Klippel-Trenaunay-Weber Syndrome |
Definition: | A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator. |
Alternative IDs: | OMIM:149000 |
ParentIDs: | MESH:D000798 |
TreeNumbers: | C14.907.077.410 |
Synonyms: | Angioosteohypertrophy Syndrome |Angio Osteohypertrophy Syndrome |Angio-Osteohypertrophy Syndrome |Angioosteohypertrophy Syndromes |Angio-Osteohypertrophy Syndromes |Angiopathies, Congenital Dysplastic |Angiopathy, Congenital Dysplastic |Congenital Dysplastic An |
Slim Mappings: | Cardiovascular disease |
Reference: |
MedGen: D007715
MeSH: D007715
OMIM: 149000;
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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