Search on: KLIPPEL TRENAUNAY SYNDROME 
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Descriptor English:   Klippel-Trenaunay-Weber Syndrome 
Descriptor Spanish:   Síndrome de Klippel-Trenaunay-Weber 
Descriptor Portuguese:   Síndrome de Klippel-Trenaunay-Weber 
Synonyms English:   Angio Osteohypertrophy Syndrome
Angio-Osteohypertrophy Syndrome
Angio-Osteohypertrophy Syndromes
Angioosteohypertrophy Syndrome
Angioosteohypertrophy Syndromes
Angiopathies, Congenital Dysplastic
Angiopathy, Congenital Dysplastic
Congenital Dysplastic Angiopathies
Congenital Dysplastic Angiopathy
Disease, Klippel-Trenaunay
Dysplastic Angiopathies, Congenital
Dysplastic Angiopathy, Congenital
KTW Syndrome
KTW Syndromes
Klippel Trenaunay Disease
Klippel Trenaunay Syndrome
Klippel Trenaunay Weber Syndrome
Klippel Trénaunay Weber Syndrome
Klippel-Trenaunay Disease
Klippel-Trenaunay Syndrome
Klippel-Trenaunay Syndromes
Klippel-Trénaunay-Weber Syndrome
Syndrome, Angio-Osteohypertrophy
Syndrome, Angioosteohypertrophy
Syndrome, KTW
Syndrome, Klippel Trenaunay
Syndrome, Klippel-Trenaunay
Syndrome, Klippel-Trenaunay-Weber
Syndrome, Klippel-Trénaunay-Weber
Syndromes, Angio-Osteohypertrophy
Syndromes, Angioosteohypertrophy
Syndromes, KTW
Syndromes, Klippel-Trenaunay  
Tree Number:   C14.907.077.410
Definition English:   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. 
History Note English:   94; was KLIPPEL-TRENAUNAY DISEASE 1975-93 (see under ANGIOMATOSIS 1975-90) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   31869 
Unique Identifier:   D007715 

Occurrence in VHL:
 

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