KTS
MCID: KLP002
MIFTS: 67

Klippel-Trenaunay Syndrome (KTS) malady

Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Klippel-Trenaunay Syndrome

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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 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 cutaneous edema, microcephaly and macrocephaly/macrocrania/megalocephaly/megacephaly. An important gene associated with Klippel-Trenaunay Syndrome is KTWS (Klippel-Trenaunay-Weber syndrome), and among its related pathways are Angiogenesis and Akt Signaling. The compounds Regorafenib and vegf have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related mouse phenotypes are pigmentation and normal.

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.

Description from OMIM:46 149000,608355

Aliases & Classifications for Klippel-Trenaunay Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 39NCIt, 60UMLS, 34MeSH, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Cardiovascular diseases, Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
klippel-trénaunay-weber syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy
klippel-trénaunay syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

klippel-trenaunay syndrome 8 42 21 43 10 44 46
klippel-trenaunay-weber syndrome 8 9 42 20 21 46
angio-osteohypertrophy syndrome 42 21
klippel trenaunay syndrome 42 22
ktw syndrome 42 21
kts 42 21
klippel-trénaunay-weber syndrome 48
congenital dysplastic angiopathy 21
angio-osteohypertrophic syndrome 48
angioosteohypertrophy syndrome 8
klippel-trénaunay syndrome 48
haemangiectatic hypertrophy 8
klippel-trenaunay disease 21


External Ids:

Disease Ontology8 DOID:2926
NCIt39 C84801
SNOMED-CT56 59078009
MeSH34 D007715
ICD10 via Orphanet26 Q87.2
SNOMED-CT via Orphanet57 59078009

Related Diseases for Klippel-Trenaunay Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Klippel-Trenaunay Syndrome:



Diseases related to klippel-trenaunay syndrome

Clinical Features for Klippel-Trenaunay Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

149000,608355

Clinical synopsis from OMIM:

149000

Symptoms:

48 (show all 57)
  • cutaneous edema
  • microcephaly
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • skull/cranial anomalies
  • tall stature/gigantism/growth acceleration
  • autosomal dominant inheritance
  • venous thrombosis/phlebitis/thrombophlebitis
  • pulmonary thromboembolism
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue
  • anomalies of bones/skeletal anomalies
  • varices/varicous veins/venous insufficiency
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • upper limb asymmetry/hemiatrophy/hemihypertrophy
  • ascitis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cutis marmorata/marbled skin/livedo
  • hydrops fetalis
  • blood hyperviscosity/hypercoagulability
  • internal hemorrhage
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • microcytic anemia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • hematuria/microhematuria
  • heart/cardiac failure
  • patent ductus arteriosus
  • atrial septal defect/interauricular communication
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • tricuspid valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • peripheral arteriovenous fistula
  • cavernous/tuberous hemangioma
  • structural anomalies of the cardio-circulatory system
  • visceral angiomatosis (excluding skin)
  • upper limb polydactyly/hexadactyly
  • xanthomas/lipomas
  • telangiectasiae of the skin
  • chronic skin infection/ulcerations/ulcers/cancrum
  • large face
  • glaucoma
  • cataract/lens opacification
  • scoliosis
  • syndactyly of fingers/interdigital palm
  • oligodactyly/ectrodactyly of fingers
  • seizures/epilepsy/absences/spasms/status epilepticus
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • lymphedema
  • bone pain
  • congenital cardiac anomaly/malformation/cardiopathy
  • vascular anomalies of skin/mucosae
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • macrodactyly/fingers hypertrophy/megalodactyly (hand)
  • lower limb segmental anomalies
  • pigmented naevi/naevus pigmentosus/lentigo

Drugs & Therapeutics for Klippel-Trenaunay Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Klippel-Trenaunay Syndrome

Drug clinical trials:

Search ClinicalTrials for Klippel-Trenaunay Syndrome

Search NIH Clinical Center for Klippel-Trenaunay Syndrome

Search CenterWatch for Klippel-Trenaunay Syndrome

Genetic Tests for Klippel-Trenaunay Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Klippel-Trenaunay Syndrome:

id Genetic test Affiliating Genes
1 Klippel-Trenaunay-Weber Syndrome20
2 Klippel Trenaunay Syndrome22

Anatomical Context for Klippel-Trenaunay Syndrome

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32MalaCards
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MalaCards organs/tissues related to Klippel-Trenaunay Syndrome:

32
Bone, Skin, Heart, Liver, Lung, Colon, Spinal cord, Brain, Spleen, Testis, Lymph node

Animal Models for Klippel-Trenaunay Syndrome or affiliated genes

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36MGI
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Publications for Klippel-Trenaunay Syndrome

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50PubMed
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Articles related to Klippel-Trenaunay Syndrome:

(show top 50)    (show all 362)
idTitleAuthorsYear
1
Phacomatosis cesioflammea with Klippel Trenaunay syndrome: A rare association. (23984239)
2013
2
Sonographic identification of klippel-trenaunay-weber syndrome. (24368952)
2013
3
Klippel-trenaunay syndrome: an often overlooked risk factor for venous thromboembolic disease. (24293983)
2012
4
Chronic pulmonary embolism in Klippel-Trenaunay syndrome. (21571392)
2012
5
Closure of non-healing chronic ulcer in Klippel-Trenaunay syndrome using low-level laser therapy. (22707702)
2012
6
The misguided research on Klippel-Trenaunay syndrome. (22030520)
2011
7
Lymphatic malformation is a common component of Klippel-Trenaunay syndrome. (20800418)
2010
8
Gigantism of the lower limb in Klippel-Trenaunay syndrome: anatomy of the lateral marginal vein. (19551303)
2009
9
Klippel-Trenaunay syndrome: a case study. (19542774)
2009
10
Total hip arthroplasty in Klippel-Trenaunay syndrome. (18990275)
2008
11
Klippel-Trenaunay syndrome: report of case affecting oral cavity. (17969485)
2007
12
Klippel-Trenaunay syndrome showing hypotrophy of the affected arm. (17223893)
2007
13
Case study: a minimally invasive approach to the treatment of Klippel-Trenaunay syndrome. (18036494)
2007
14
Anesthetic and obstetric considerations in a parturient with Klippel-Trenaunay syndrome. (16636034)
2006
15
Extensive cervical-mediastinal cystic lymphatic malformation treated with sclerotherapy in a child with Klippel-Trenaunay syndrome. (16410083)
2006
16
Deviated nasal septum in case of Klippel-Trenaunay-Weber Syndrome. (23120322)
2006
17
Urogenital involvement in the Klippel-Trenaunay-Weber syndrome. Treatment options and results. (17201948)
2006
18
Prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome: a case report. (15916215)
2005
19
Evaluation and management of pain in patients with Klippel-Trenaunay syndrome: a review. (15741381)
2005
20
Genitourinary manifestations of Klippel-Trenaunay syndrome: report of two cases managed with systemic alpha-interferon. (16303732)
2005
21
Klippel-Trenaunay syndrome with small vessel pulmonary arterial hypertension. (16263952)
2005
22
An infantile case of Sturge-Weber syndrome in association with Klippel-Trenaunay-Weber syndrome and phakomatosis pigmentovascularis. (16361829)
2005
23
Klippel--Trenaunay syndrome: association with absence of ipsilateral testis. (17642673)
2004
24
Wilms tumor screening is unnecessary in Klippel-Trenaunay syndrome. (15060262)
2004
25
Bone lengthening for correction of limb length discrepancy in a patient with Klippel-Trenaunay syndrome: a case report. (15669469)
2004
26
Diffuse hemangioma of the rectum detected on multi-slice CT in an 18-year-old woman with Klippel-Trenaunay syndrome. (16146012)
2004
27
Prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome associated with umbilical cord hemangioma. (12638074)
2003
28
An unusual case of Sturge-Weber syndrome in association with phakomatosis pigmentovascularis and Klippel-Trenaunay-Weber syndrome. (12055477)
2002
29
Successful treatment of chronic wound in Klippel-Trenaunay syndrome with recombinant human platelet-derived growth factor-BB. (12045617)
2002
30
Direct MR venography of persistent sciatic vein in a patient with Klippel-Trenaunay-Weber syndrome. (11804934)
2002
31
An unusual postextraction hemorrhage associated with Klippel-Trenaunay-Weber syndrome. (11213990)
2001
32
Klippel-Trenaunay syndrome: what are the implications for wound care? (11924355)
2001
33
Klippel-Trenaunay-Weber syndrome with hemimegalencephaly. (11314632)
2001
34
Massive hematuria in adults with Klippel-Trenaunay syndrome associated with vascular malformation of the bladder. (10895091)
2000
35
Hodgkin's disease in a patient with Klippel-Trenaunay syndrome. (9140424)
1997
36
Klippel-Trenaunay-Weber syndrome. (9479895)
1997
37
Gram-negative bacteremia in four patients with Klippel-Trenaunay-Weber syndrome. (8628620)
1996
38
Pregnancy complicated by the Klippel-Trenaunay syndrome. A case report. (7776315)
1995
39
The lymphoscintigraphic evaluation of patients with Klippel-Trenaunay syndrome. (8389680)
1993
40
Klippel-Trenaunay syndrome and cutaneous carcinomas. (8389775)
1993
41
Genetic aspects of the Klippel-Trenaunay syndrome. (1319193)
1992
42
The Klippel-Trenaunay syndrome. (1846865)
1991
43
Musculoskeletal findings in Klippel-Trenaunay syndrome. (1663014)
1991
44
Congenital genitourinary hemangiomas in a patient with the Klippel-Trenaunay syndrome: management with the neodymium:YAG laser. (2538664)
1989
45
Klippel-Trenaunay-Weber syndrome: a case with cerebral and cerebellar hemihypertrophy. (2845296)
1988
46
The Klippel-Trenaunay syndrome with colonic hemangioma. (2832243)
1987
47
The etiology of the Klippel-Trenaunay syndrome. (2996451)
1985
48
Klippel-Trenaunay syndrome: a typical case. (6286801)
1982
49
Retinal varicosity in Klippel-Trenaunay syndrome. (230332)
1979
50
Two Nigerian children with the Klippel-Trenaunay syndrome. (5361769)
1969

Genetic Variations for Klippel-Trenaunay Syndrome

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Expression for genes affiliated with Klippel-Trenaunay Syndrome

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1BioGPS, 15Gene 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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4Cell Signaling Technology, 51QIAGEN
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Pathways related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4FLT4, NOTCH4, TEK
2
Hide members
8.5SEMA4B, TEK, ACVRL1, FLT4, TNFSF12
3
Hide members
8.2TNFSF12, FLT4, NOTCH4, ACVRL1, TEK, SEMA4B
4
Hide members
6.9SEMA4B, SOX18, TNFSF12, FLT4, SYNGAP1, RASA1

Compounds for genes affiliated with Klippel-Trenaunay Syndrome

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11DrugBank, 44Novoseek
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Compounds related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Regorafenib119.7TEK, FLT4
2vegf448.2SERPINC1, TEK, ACVRL1, NOTCH4, FLT4

GO Terms for genes affiliated with Klippel-Trenaunay Syndrome

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16Gene Ontology
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Cellular components related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic to internal side of plasma membraneGO:0312359.1RASA1, SYNGAP1
2cell surfaceGO:0099869.0TEK, ACVRL1, NOTCH4, NDP

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1lymphatic endothelial cell differentiationGO:06083610.2ACVRL1, SOX18
2embryonic heart tube developmentGO:03505010.2SOX18, FOXC2
3endothelial tube morphogenesisGO:06115410.1ACVRL1, CCM2
4negative regulation of endothelial cell differentiationGO:04560210.0NOTCH4, ACVRL1
5negative regulation of endothelial cell migrationGO:01059610.0ACVRL1, KRIT1
6vascular endothelial growth factor receptor signaling pathwayGO:04801010.0FOXC2, FLT4
7negative regulation of endothelial cell apoptotic processGO:200035210.0TEK, KRIT1
8negative regulation of endothelial cell proliferationGO:0019379.9ACVRL1, KRIT1
9sprouting angiogenesisGO:0020409.9TEK, FLT4
10positive regulation of endothelial cell migrationGO:0105959.8TEK, FLT4, FOXC2
11lymphangiogenesisGO:0019469.7SOX18, FOXC2, FLT4, ACVRL1
12positive regulation of angiogenesisGO:0457669.7TNFSF12, AGGF1, TEK
13vasculature developmentGO:0019449.7FLT4, SOX18
14positive regulation of Ras GTPase activityGO:0323209.5RASA1, SYNGAP1
15negative regulation of Ras protein signal transductionGO:0465809.3SYNGAP1, RASA1
16positive regulation of transcription, DNA-dependentGO:0458939.3NDP, SOX18, FOXC2, NOTCH4, ACVRL1
17vasculogenesisGO:0015709.3CCM2, SOX18, AGGF1, GLMN, RASA1
18positive regulation of endothelial cell proliferationGO:0019389.2TEK, ACVRL1, AGGF1, FLT4, TNFSF12
19negative regulation of apoptotic processGO:0430669.1TEK, SYNGAP1, FLT4, FOXC2, PDCD10
20angiogenesisGO:0015258.8TEK, ACVRL1, KRIT1, AGGF1, TNFSF12, PDCD10

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

idNameGO IDScoreTop Affiliating Genes
1Ras GTPase activator activityGO:0050999.4RASA1, SYNGAP1
2protein bindingGO:0055156.1SERPINC1, CCM2, PDCD10, TNFSF12, FLT4, AGGF1

Products for genes affiliated with Klippel-Trenaunay Syndrome

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Sources for Klippel-Trenaunay Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet