Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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
1 HP:0001871Abnormality of blood and blood-forming tissues
2 HP:0004947Arteriovenous fistula
3 HP:0000501Glaucoma
4 HP:0001180Hand oligodactyly
5 HP:0001161Hand polydactyly
6 HP:0001028Hemangioma
7 HP:0001528Hemihypertrophy
8 HP:0005606Hyperpigmented nevi and streak
9 HP:0001249Intellectual disability
10 HP:0100764Lymphangioma
11 HP:0001004Lymphedema
12 HP:0004099Macrodactyly
13 HP:0001250Seizure
14 HP:0003745Sporadic
15 HP:0001159Syndactyly
Disease Causing ClinVar Variants