Klippel-Trenaunay-Weber Syndrome malady
Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Klippel-Trenaunay-Weber Syndrome:
Orphanet epidemiological data:53
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: 30 29
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 Klippel-Trenaunay syndrome (KTS) is a syndrome that affects the development of blood vessels, soft tissues, and bones. This syndrome 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 sometimes the upper body area (torso). The overgrowth can cause pain, a feeling of heaviness, and make the affected leg (or arm) hard to move. Most, if not all, cases of KTS are caused by somatic mutations in the PIK3CA gene. Medical researchers believe KTS is part of a group of disorders known as PIK3CA-related overgrowth spectrum (PROS) which also includes MCAP and CLOVES syndromes, hemimegalencephaly, fibroadipose hyperplasia, and epidermal nevus. Treatment is symptomatic and supportive. Last updated: 11/14/2016
MalaCards based summary: Klippel-Trenaunay-Weber Syndrome, also known as klippel-trenaunay syndrome, is related to inverse klippel-trénaunay syndrome and hemihyperplasia, isolated, 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 eye, and related mouse phenotypes are digestive/alimentary and muscle.
Disease Ontology:11 A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
UniProtKB/Swiss-Prot:69 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.
NINDS:48 Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue.
Genetics Home Reference:25 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.
Description from OMIM:51 149000
Human phenotypes related to Klippel-Trenaunay-Weber Syndrome:63 53 (show all 47)
Drugs for Klippel-Trenaunay-Weber Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 30)
Interventional clinical trials:(show all 16)
Search NIH Clinical Center for Klippel-Trenaunay-Weber Syndrome
MalaCards organs/tissues related to Klippel-Trenaunay-Weber Syndrome:35
Bone, Skin, Eye, Heart, Spinal cord, Testis, Spleen
MGI Mouse Phenotypes related to Klippel-Trenaunay-Weber Syndrome:40
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 11)
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet