|
KTS
MCID: KLP010
MIFTS: 59
|
Klippel-Trenaunay-Weber Syndrome (KTS)
Categories:
Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
|
|
|
|
MalaCards integrated aliases for Klippel-Trenaunay-Weber Syndrome:
Characteristics:Orphanet epidemiological data:58
klippel-trenaunay syndrome
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (United States),<1/1000000 (Europe); Age of onset: Infancy,Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases Anatomical: Eye diseases Cardiovascular diseases Bone diseases Skin diseases
ICD10:
32
33
Orphanet: 58
Rare eye diseases
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis |
|
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.
Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. The affected area may become lighter or darker with age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily.
Klippel-Trenaunay syndrome is also associated with overgrowth of bones and soft tissues beginning in infancy. Usually this abnormal growth is limited to one limb, most often one leg. However, overgrowth can also affect the arms or, rarely, the torso. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking.
Malformations of veins are the third major feature of Klippel-Trenaunay syndrome. These abnormalities include varicose veins, which are swollen and twisted veins near the surface of the skin that often cause pain. Varicose veins usually occur on the sides of the upper legs and calves. Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. Malformations of deep veins increase the risk of a type of blood clot called a deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening blood clot known as a pulmonary embolism (PE).
Other complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits (polydactyly).
MalaCards based summary : Klippel-Trenaunay-Weber Syndrome, also known as klippel-trenaunay syndrome, is related to weber syndrome and varicose veins. 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/superpathways are Response to elevated platelet cytosolic Ca2+ and MAPK Erk Pathway. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung, and related phenotypes are hemangioma and venous insufficiency Disease Ontology : 12 A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. NIH Rare Diseases : 52 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 only affects 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. NINDS : 53 Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue. Typical symptoms include hemangiomas (abnormal benign growths on the skin consisting of masses of blood vessels) and varicose veins. Fused toes or fingers, or extra toes or fingers, may be present. In some cases, internal bleeding may occur as a result of blood vessel malformations involving organs such as the stomach, rectum, vagina, liver, spleen, bladder, kidneys, lungs, or heart. Individuals are also at risk for blood clots. The cause of the disorder is unknown. A similar port-wine stain disorder in which individuals have vascular anomalies on the face as well as in the brain is Sturge-Weber syndrome. These individuals may experience seizures and mental deficiency. In some cases, features of the Klippel-Trenaunay syndrome and Sturge-Weber syndrome coincide. Another overlapping condition is the Parkes-Weber syndrome, which is characterized by abnormal connectivity between the arterial and venous system (arteriovenous fistulas). KEGG : 36 Klippel-Trenaunay-Weber syndrome is a rare congenital syndrome, consisting of vascular malformation of blood and lymph vessels. This disease is characterized by a classic triad of cutaneous hemangiomas, varicose veins, and bone or soft tissue hypertrophy causing limb asymmetry. Clinical presentation may vary from being asymptomatic to developing potentially life-threatening complications, such as deep vein thrombosis (DVT), pulmonary embolism (PE), and recurrent bleeding. Most cases arise from sporadic mutations in one or more genes involved in early embryonic angiogenesis. UniProtKB/Swiss-Prot : 73 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. Wikipedia : 74 Klippel-Trénaunay syndrome formerly Klippel-Trénaunay-Weber syndrome and sometimes angioosteohypertrophy... more...
More information from OMIM:
149000
|
Human phenotypes related to Klippel-Trenaunay-Weber Syndrome:58 31 (show all 43)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:149000MGI Mouse Phenotypes related to Klippel-Trenaunay-Weber Syndrome:45
|
Drugs for Klippel-Trenaunay-Weber Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 25)
Interventional clinical trials:(show all 13)
Cochrane evidence based reviews: klippel-trenaunay-weber syndrome |
MalaCards organs/tissues related to Klippel-Trenaunay-Weber Syndrome:40
Bone,
Skin,
Lung,
Spleen,
Brain,
Heart,
Kidney
|
Articles related to Klippel-Trenaunay-Weber Syndrome:(show top 50) (show all 1025)
|
Genes related to Klippel-Trenaunay-Weber Syndrome (2 elite genes):(show all 20) - Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Klippel-Trenaunay-Weber Syndrome:73
|
|
Search
GEO
for disease gene expression data for Klippel-Trenaunay-Weber Syndrome.
|
Pathways related to Klippel-Trenaunay-Weber Syndrome according to GeneCards Suite gene sharing:(show all 30)
|
Cellular components related to Klippel-Trenaunay-Weber Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Klippel-Trenaunay-Weber Syndrome according to GeneCards Suite gene sharing:(show all 19)
|
|