KTS
MCID: KLP002
MIFTS: 67

Klippel-Trenaunay Syndrome (KTS) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Klippel-Trenaunay Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 45NINDS, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 veins and malformations of deep veins in the limbs. the cause of klippel-trenaunay syndrome is unknown. this condition 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: Klippel-Trenaunay Syndrome, also known as klippel-trenaunay-weber syndrome, is related to hemangioma and arteriovenous malformation, and has symptoms including metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea, hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding and hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding. An important gene associated with Klippel-Trenaunay Syndrome is KTWS (Klippel-Trenaunay-Weber syndrome), and among its related pathways are G protein signaling Rap1A regulation pathway and G protein signaling H RAS regulation pathway. The compounds regorafenib and diltiazem 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.

Genetics Home Reference:22 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:45 Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue.

Description from OMIM:48 149000,608355

Aliases & Classifications for Klippel-Trenaunay Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 59SNOMED-CT, 63UMLS, 41NCIt, 36MeSH, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
klippel-trénaunay-weber syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy
klippel-trénaunay syndrome:
Inheritance: Multigenic/multifactorial,Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

klippel-trenaunay syndrome 9 44 22 45 11 46 48
klippel-trenaunay-weber syndrome 9 10 44 22 48
angio-osteohypertrophy syndrome 44 22
klippel trenaunay syndrome 44 23
weber-klippel-trenaunay 44 21
ktw syndrome 44 22
kts 44 22
klippel-trénaunay-weber syndrome 50
congenital dysplastic angiopathy 22
angioosteohypertrophic syndrome 50
angioosteohypertrophy syndrome 9
klippel-trénaunay syndrome 50
haemangiectatic hypertrophy 9
klippel-trenaunay disease 22


External Ids:

Disease Ontology9 DOID:2926
NCIt41 C84801
SNOMED-CT59 59078009
MeSH36 D007715
ICD10 via Orphanet27 Q87.2
SNOMED-CT via Orphanet60 59078009

Related Diseases for Klippel-Trenaunay Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Klippel-Trenaunay Syndrome:



Diseases related to klippel-trenaunay syndrome

Symptoms for Klippel-Trenaunay Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

149000

Clinical features from OMIM:

149000,608355

Symptoms:

50 (show all 56)
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue
  • varices/varicous veins/venous insufficiency
  • upper limb polydactyly/hexadactyly
  • tall stature/gigantism/growth acceleration
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • visceral angiomatosis (excluding skin)
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • internal hemorrhage
  • blood hyperviscosity/hypercoagulability
  • lower limb segmental anomalies
  • macrodactyly/fingers hypertrophy/megalodactyly (hand)
  • upper limb asymmetry/hemiatrophy/hemihypertrophy
  • oligodactyly/ectrodactyly of fingers
  • cutis marmorata/marbled skin/livedo
  • tricuspid valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • peripheral arteriovenous fistula
  • bone pain
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • pulmonary thromboembolism
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • cataract/lens opacification
  • hepatomegaly/liver enlargement (excluding storage disease)
  • vascular anomalies of skin/mucosae
  • anomalies of bones/skeletal anomalies
  • microcephaly
  • structural anomalies of the cardio-circulatory system
  • ascitis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • pigmented naevi/naevus pigmentosus/lentigo
  • autosomal dominant inheritance
  • syndactyly of fingers/interdigital palm
  • large face
  • scoliosis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • chronic skin infection/ulcerations/ulcers/cancrum
  • cutaneous edema
  • hydrops fetalis
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • atrial septal defect/interauricular communication
  • microcytic anemia
  • skull/cranial anomalies
  • venous thrombosis/phlebitis/thrombophlebitis
  • xanthomas/lipomas
  • lymphedema
  • hematuria/microhematuria
  • telangiectasiae of the skin
  • congenital cardiac anomaly/malformation/cardiopathy
  • cavernous/tuberous hemangioma
  • heart/cardiac failure
  • patent ductus arteriosus
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia

Drugs & Therapeutics for Klippel-Trenaunay Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Klippel-Trenaunay Syndrome

Search CenterWatch for Klippel-Trenaunay Syndrome

Genetic Tests for Klippel-Trenaunay Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Klippel-Trenaunay Syndrome:

id Genetic test Affiliating Genes
1 Klippel-Trenaunay-Weber Syndrome21
2 Klippel Trenaunay Syndrome23

Anatomical Context for Klippel-Trenaunay Syndrome

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34MalaCards
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MalaCards organs/tissues related to Klippel-Trenaunay Syndrome:

34
Bone, Skin, Heart, Liver, Lung, Colon, Brain, Testis, Spleen, Lymph node

Animal Models for Klippel-Trenaunay Syndrome or affiliated genes

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38MGI
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Publications for Klippel-Trenaunay Syndrome

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53PubMed
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Articles related to Klippel-Trenaunay Syndrome:

(show top 50)    (show all 262)
idTitleAuthorsYear
1
Klippel-Trenaunay Syndrome Causing Life-Threatening GI Bleeding: A Case Report and Review of the Literature. (23862081)
2013
2
Phacomatosis cesioflammea with Klippel Trenaunay syndrome: A rare association. (23984239)
2013
3
Diverse manifestations and management options in Klippel-Trenaunay syndrome: a single centre 10-year experience. (23710784)
2013
4
Fat embolism after liposuction in Klippel-Trenaunay syndrome. (23851798)
2013
5
Endovenous radiofrequency ablation and combined foam sclerotherapy treatment of multiple refluxing perforator veins in a Klippel-Trenaunay syndrome patient. (23868201)
2013
6
Conus medullaris-cauda arteriovenous malformation and Klippel-Trenaunay syndrome: what is the treatment goal? (23438663)
2013
7
Management of a Klippel-Trenaunay syndrome in pregnant women with mega-cisterna magna and splenic and vulvar varices at birth: a case report. (22612590)
2012
8
Overlap of sturge-weber syndrome and klippel-trenaunay syndrome. (22345790)
2011
9
Successful Management of Pregnancy Complicated by Klippel-Trenaunay Syndrome Using MR Angiography-Based Evaluation. (22567516)
2011
10
Indirect MR venography for evaluation and therapy planning of patients with Klippel-Trenaunay syndrome. (20093583)
2010
11
Postoperative pulmonary embolism in a three year old with Klippel-Trenaunay syndrome. (23754873)
2009
12
Klippel-Trenaunay syndrome and cerebral haemangiopericytoma: a potential association. (18297229)
2008
13
Skin ulcers in Klippel-Trenaunay syndrome respond to sunitinib. (18355766)
2008
14
Total hip arthroplasty in Klippel-Trenaunay syndrome. (18990275)
2008
15
Klippel-trenaunay syndrome. (23132972)
2007
16
Klippel-Trenaunay syndrome: incidence and treatment of genitourinary sequelae. (17382698)
2007
17
Hemodynamic impairment, venous segmental disease, and clinical severity scoring in limbs with Klippel-Trenaunay syndrome. (17275246)
2007
18
Inverse Klippel-Trenaunay syndrome: review of cases showing deficient growth. (17341861)
2007
19
Bipolar affective disorder with Klippel-Trenaunay syndrome. (17924248)
2007
20
A female with hemihypertrophy and chylous ascites - Klippel-Trenaunay syndrome or Proteus syndrome: a diagnostic dilemma. (16957479)
2006
21
Evaluation and management of pain in patients with Klippel-Trenaunay syndrome: a review. (15741381)
2005
22
Klippel-Trenaunay syndrome. (15984958)
2005
23
Klippel--Trenaunay syndrome: association with absence of ipsilateral testis. (17642673)
2004
24
Surgical eradication of esophageal carcinoma in a patient with Klippel-Trenaunay syndrome. (15357114)
2004
25
Klippel-Trenaunay syndrome with involvement of coecum and rectum: a rare cause of lower gastrointestinal bleeding. (15649861)
2004
26
Leiomyoma of the diaphragm in a child with Klippel Trenaunay syndrome. (15043675)
2004
27
Klippel-Trenaunay syndrome and Sturge-Weber syndrome: variations on a theme? (12804981)
2003
28
Relief of iliofemoral vein occlusion with the Palma bypass in a patient with Klippel Trenaunay syndrome. (14670026)
2003
29
Factor VII deficiency and a copper metabolism disorder in a patient with Klippel-Trenaunay syndrome. (12037456)
2002
30
Early surgical management of Klippel-Trenaunay syndrome in childhood can prevent long-term haemodynamic effects of distal venous hypertension. (11819205)
2002
31
Klippel-Trenaunay syndrome. (11563259)
2001
32
Hyperbaric oxygen delivery in treatment of a child with Klippel-Trenaunay syndrome complicated with a limb threatening Escherichia coli infection. (10823397)
2000
33
Successful pulmonary thromboendarterectomy in a patient with Klippel-Trenaunay syndrome. (10807850)
2000
34
Epidural analgesia in an obstetric patient with Klippel-Trenaunay syndrome. (10325854)
1999
35
Case report: MRI of Klippel-Trenaunay syndrome: use of the short tau inversion recovery (STIR) sequence. (8937328)
1996
36
Major conduction anesthesia in a patient with Klippel-Trenaunay Syndrome. (7546759)
1995
37
Pregnancy complicated by the Klippel-Trenaunay syndrome. A case report. (7776315)
1995
38
A case illustrating Proteus and Klippel-Trenaunay syndrome overlap. (8078049)
1993
39
Anesthesia for patients with Sturge-Weber disease and Klippel-Trenaunay syndrome. (1657059)
1991
40
Klippel-Trenaunay syndrome: the risks and benefits of vascular interventions. (1653464)
1991
41
The Klippel-Trenaunay syndrome. (1846865)
1991
42
Anomalies of the fingers and toes associated with Klippel-Trenaunay syndrome. (1660897)
1991
43
Congenital genitourinary hemangiomas in a patient with the Klippel-Trenaunay syndrome: management with the neodymium:YAG laser. (2538664)
1989
44
Platelet sequestration in a vascular malformation of Klippel-Trenaunay syndrome. (2825495)
1987
45
The Klippel-Trenaunay syndrome with colonic hemangioma. (2832243)
1987
46
The Klippel-Trenaunay syndrome: clinical, radiological and haemodynamic features and management. (2983819)
1985
47
The Klippel-Trenaunay syndrome with acro-angiodermatitis (pseudo-Kaposi's sarcoma). (2578712)
1985
48
The etiology of the Klippel-Trenaunay syndrome. (2996451)
1985
49
Klippel-Trenaunay syndrome. A case report and review of the literature. (166454)
1975
50
Congenital arteriovenous fistula and the Klippel-Trenaunay syndrome. (5560849)
1971

Variations for Klippel-Trenaunay Syndrome

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Expression for genes affiliated with Klippel-Trenaunay Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Klippel-Trenaunay Syndrome

Search GEO for disease gene expression data for Klippel-Trenaunay Syndrome.

Pathways for genes affiliated with Klippel-Trenaunay Syndrome

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51PathCards, 61Thomson Reuters, 5Cell Signaling Technology, 54QIAGEN, 31KEGG
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Compounds for genes affiliated with Klippel-Trenaunay Syndrome

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52PharmGKB, 12DrugBank, 46Novoseek, 30IUPHAR
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Compounds related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1regorafenib52 1210.4TEK, FLT4
2diltiazem46 30 52 1212.0KRIT1, SERPINC1
3arginine468.4NDP, KRIT1, RASA1, SERPINC1
4vegf467.7NOTCH4, ACVRL1, FLT4, SERPINC1, TEK

GO Terms for genes affiliated with Klippel-Trenaunay Syndrome

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17Gene Ontology
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Cellular components related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099868.4TEK, ACVRL1, NOTCH4, NDP
2extracellular regionGO:0055767.9TEK, SERPINC1, FLT4, NOTCH4, AGGF1
3integral component of plasma membraneGO:0058877.9TEK, TNFSF12, FLT4, ACVRL1, NOTCH4

Biological processes related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1embryonic heart tube developmentGO:03505010.2FOXC2, SOX18
2lymphatic endothelial cell differentiationGO:06083610.1ACVRL1, SOX18
3vascular endothelial growth factor receptor signaling pathwayGO:04801010.1FLT4, FOXC2
4endothelial tube morphogenesisGO:06115410.0ACVRL1, CCM2
5vasculature developmentGO:00194410.0SOX18, FLT4
6negative regulation of endothelial cell migrationGO:01059610.0KRIT1, ACVRL1
7negative regulation of endothelial cell differentiationGO:0456029.8NOTCH4, ACVRL1
8negative regulation of endothelial cell apoptotic processGO:20003529.8KRIT1, TEK
9blood vessel remodelingGO:0019749.8ACVRL1, FOXC2
10negative regulation of endothelial cell proliferationGO:0019379.8KRIT1, ACVRL1
11sprouting angiogenesisGO:0020409.7TEK, FLT4
12positive regulation of endothelial cell migrationGO:0105959.6FOXC2, FLT4, TEK
13positive regulation of angiogenesisGO:0457669.5TEK, TNFSF12, AGGF1
14lymphangiogenesisGO:0019469.5SOX18, FLT4, FOXC2, ACVRL1
15negative regulation of cell adhesionGO:0071629.5ACVRL1, RASA1
16patterning of blood vesselsGO:0015699.4NOTCH4, FOXC2
17in utero embryonic developmentGO:0017019.4SOX18, CCM2, ACVRL1
18vasculogenesisGO:0015709.3AGGF1, GLMN, RASA1, CCM2, SOX18
19negative regulation of apoptotic processGO:0430669.2PDCD10, FOXC2, FLT4, TEK
20positive regulation of transcription, DNA-templatedGO:0458938.9SOX18, FOXC2, ACVRL1, NOTCH4, NDP
21positive regulation of endothelial cell proliferationGO:0019388.8TEK, TNFSF12, FLT4, ACVRL1, AGGF1
22signal transductionGO:0071658.3TEK, TNFSF12, ACVRL1, RASA1, NDP
23angiogenesisGO:0015258.3AGGF1, KRIT1, PDCD10, ACVRL1, SOX18, TNFSF12

Molecular functions related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein tyrosine kinase activityGO:0047149.5TEK, FLT4
2growth factor bindingGO:0198389.2FLT4, TEK
3protein bindingGO:0055154.9PDCD10, SERPINC1, FLT4, CCM2, ACVRL1, TEK

Products for genes affiliated with Klippel-Trenaunay Syndrome

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Sources for Klippel-Trenaunay Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet