Klippel-Trenaunay-Weber Syndrome malady
Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Klippel-Trenaunay-Weber Syndrome:
Orphanet epidemiological data:52
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (United States),<1/1000000 (Europe); Age of onset: Infancy,Neonatal
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Cardiovascular diseases, Bone diseases, Skin diseases
ICD10: 29 28
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:46 Klippel-trenaunay syndrome (kts) is a condition that affects the development of blood vessels, soft tissues, and bones. this condition has three characteristic features: a red birthmark called a port-wine stain; overgrowth of soft tissues and bones; and vein malformations such as varicose veins or malformations of deep veins in the limbs. the overgrowth of bones and soft tissues usually begins in infancy and is most often limited to one leg. however, it can also affect the arms or, rarely, the torso. the overgrowth can cause pain, a feeling of heaviness, and reduced movement in the affected area. the exact cause of kts is unclear. it is thought to occur sporadically (in people with no family history of the condition), however several recent studies have found kts may be caused by mutations in the pik3ca gene . treatment is symptomatic and supportive. last updated: 2/9/2016
MalaCards based summary: Klippel-Trenaunay-Weber Syndrome, also known as klippel-trenaunay syndrome, is related to inverse klippel-trénaunay syndrome and angioosteohypertrophic syndrome, and has symptoms including abnormality of the skin, venous insufficiency and lower limb asymmetry. An important gene associated with Klippel-Trenaunay-Weber Syndrome is AGGF1 (Angiogenic Factor With G-Patch And FHA Domains 1), and among its related pathways is G-protein signaling_Rap1A regulation pathway. Affiliated tissues include bone, skin and heart, and related mouse phenotypes are integument and muscle.
Disease Ontology:11 A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
Genetics Home Reference:24 Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.
NINDS:47 Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue.
UniProtKB/Swiss-Prot:68 Klippel-Trenaunay syndrome: Congenital disease characterized by malformations of capillary (98% of KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and soft tissue hypertrophy that leads to large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
Description from OMIM:50 149000
Symptoms by clinical synopsis from OMIM:149000
Clinical features from OMIM:149000
Symptoms:52 (show all 31)
HPO human phenotypes related to Klippel-Trenaunay-Weber Syndrome:(show all 39)
Drugs for Klippel-Trenaunay-Weber Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:(show all 15)
Search NIH Clinical Center for Klippel-Trenaunay-Weber Syndrome
MalaCards organs/tissues related to Klippel-Trenaunay-Weber Syndrome:34
Bone, Skin, Heart, Spinal cord, Testis, Spleen
MGI Mouse Phenotypes related to Klippel-Trenaunay-Weber Syndrome:39
Articles related to Klippel-Trenaunay-Weber Syndrome:(show top 50) (show all 98)
Search GEO for disease gene expression data for Klippel-Trenaunay-Weber Syndrome.
Biological processes related to Klippel-Trenaunay-Weber Syndrome according to GeneCards Suite gene sharing:(show all 12)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet