Klippel-Trenaunay Syndrome (KTS) malady
Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases categories
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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Klippel trenaunay syndrome 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, abnormal overgrowth of soft tissues and bones, and vein malformations. a port-wine stain is a type of birthmark caused by swelling of the small blood vessels near the surface of the skin. the overgrowth of bones and soft tissues usually begins in infancy and is most often limited to one leg. however, overgrowth can also affect the arms or, rarely, the trunk. the abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. the vein malformations include varicose veinsÂ and malformations of deep veins in the limbs. the cause of klippel-trenaunay syndrome is unknown. this conditionÂ is almost always sporadic, which means that it occurs in people with no history of the disorder in their family. last updated: 1/10/2012
MalaCards based summary: Klippel-Trenaunay Syndrome, also known as klippel-trenaunay-weber syndrome, is related to hemangioma and arteriovenous malformation, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, microcephaly and large face. An important gene associated with Klippel-Trenaunay Syndrome is RASA1 (RAS p21 protein activator (GTPase activating protein) 1), and among its related pathways are G protein signaling Rap1A regulation pathway and G protein signaling H RAS regulation pathway. The compounds diltiazem and regorafenib have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related mouse phenotypes are no phenotypic analysis and pigmentation.
Disease Ontology:8 A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones ans soft tissues.
Genetics Home Reference:21 Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues, 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:43 Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue.
Descriptions from OMIM:46 149000,608355
Klippel-Trenaunay Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Cardiovascular diseases, Bone diseases, Skin diseases
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy
Inheritance: Multigenic/multifactorial,Sporadic; Age of onset: Neonatal/infancy
Symptoms by clinical synopsis from OMIM:149000
Clinical features from OMIM:149000,608355
Symptoms:48 (show all 56)
HPO human phenotypes related to Klippel-Trenaunay Syndrome:(show all 74)
MalaCards organs/tissues related to Klippel-Trenaunay Syndrome:32
Bone, Skin, Heart, Liver, Lung, Colon, Lymph node, Brain, Spleen, Testis
MGI Mouse Phenotypes related to Klippel-Trenaunay Syndrome:36 (show all 13)
Articles related to Klippel-Trenaunay Syndrome:(show top 50) (show all 278)
Search GEO for disease gene expression data for Klippel-Trenaunay Syndrome.
Pathways related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:
Cellular components related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:
Biological processes related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:(show all 23)
Molecular functions related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet