KTS
MCID: KLP002
MIFTS: 60

Klippel-Trenaunay Syndrome (KTS) malady

Cardiovascular, Bone, Skin, Fetal categories

Summaries for Klippel-Trenaunay Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 arteriovenous malformation and lymphedema, congenital, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, macrocephaly/macrocrania/megalocephaly/megacephaly and syndactyly of fingers/interdigital palm. 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 skin, spinal cord and brain, 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:44 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:47 149000,608355

Aliases & Classifications for Klippel-Trenaunay Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 10DISEASES, 45Novoseek, 47OMIM, 9diseasecard, 20GeneTests, 22GTR, 49Orphanet, 40NCIt, 61UMLS, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 21 44 10 45 47
klippel-trenaunay-weber syndrome 8 9 43 20 21 47
angio-osteohypertrophy syndrome 43 21
klippel trenaunay syndrome 43 22
ktw syndrome 43 21
kts 43 21
klippel-trénaunay-weber syndrome 49
congenital dysplastic angiopathy 21
angio-osteohypertrophic syndrome 49
angioosteohypertrophy syndrome 8
klippel-trénaunay syndrome 49
haemangiectatic hypertrophy 8
klippel-trenaunay disease 21


External Ids:

Disease Ontology8 DOID:2926
NCIt40 C84801
SNOMED-CT57 59078009
MeSH35 D007715
ICD10 via Orphanet26 Q87.2

Related Diseases for Klippel-Trenaunay Syndrome

Sources:
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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

149000,608355

Clinical synopsis from OMIM:

149000

Symptoms:

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

Drugs & Therapeutics for Klippel-Trenaunay Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Klippel-Trenaunay Syndrome:

33
Skin, Spinal cord, Brain, Lymph node, Spleen, Heart, Small intestine, Colon, Testis, Fetal brain

Animal Models for Klippel-Trenaunay Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Klippel-Trenaunay Syndrome

Sources:
51PubMed
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Articles related to Klippel-Trenaunay Syndrome:

(show top 50)    (show all 363)
idTitleAuthorsYear
1
Endovenous radiofrequency ablation and combined foam sclerotherapy treatment of multiple refluxing perforator veins in a Klippel-Trenaunay syndrome patient. (23868201)
2013
2
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth. (23801933)
2013
3
Images in vascular medicine. The mystery of a crimson leg: a case of Klippel-Trenaunay-Weber syndrome. (23263154)
2013
4
Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome. (23161195)
2012
5
May-Thurner syndrome associated with Klippel-Trenaunay syndrome. (23588840)
2012
6
Klippel-Trenaunay syndrome complicated by ascites and vaginal lymphatic drainage in adolescence: a case report. (23062447)
2012
7
Anesthesia for surgery related to Klippel-Trenaunay syndrome: a review of 136 anesthetics. (21467557)
2011
8
Sclerotherapy of rectal hemangiomas in a child with Klippel-Trenaunay-Weber syndrome. (21057326)
2011
9
Abnormal Tc99m sulesomab in Klippel-Trenaunay syndrome. (21598233)
2010
10
Klippel-Trenaunay syndrome was not the correct answer. (20124155)
2010
11
Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndrome. (20609155)
2010
12
Postoperative pulmonary embolism in a three year old with Klippel-Trenaunay syndrome. (23754873)
2009
13
Klippel-Trenaunay-Weber syndrome: orodental manifestations and management considerations. (19464652)
2009
14
Cognitive level and adaptive behaviour in the Klippel-Trenaunay-Weber Syndrome. An example of the potentials of an early intervention model applied to a complex pathology. (18608386)
2008
15
Overlapping of Sturge Weber syndrome and Klippel Trenaunay Weber syndrome. (18285739)
2008
16
Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program. (18564129)
2008
17
Klippel-Trenaunay syndrome: incidence and treatment of genitourinary sequelae. (17382698)
2007
18
Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? (16443853)
2006
19
Venogenic erectile dysfunction in Klippel-Trenaunay syndrome. (16430639)
2006
20
Pulmonary embolism in a patient with Klippel-Trenaunay-Weber syndrome. (17001548)
2006
21
Klippel-Trenaunay syndrome. (15984958)
2005
22
Klippel-Trenaunay syndrome with involvement of coecum and rectum: a rare cause of lower gastrointestinal bleeding. (15649861)
2004
23
Klippel-Trenaunay-Weber syndrome and duodenal hemorrhage. (14595316)
2003
24
Sturge-Weber-Klippel-Trenaunay syndrome: what's in a name? (12804977)
2003
25
Factor VII deficiency and a copper metabolism disorder in a patient with Klippel-Trenaunay syndrome. (12037456)
2002
26
Early surgical management of Klippel-Trenaunay syndrome in childhood can prevent long-term haemodynamic effects of distal venous hypertension. (11819205)
2002
27
The Klippel-Trenaunay syndrome in pregnancy. (12452471)
2002
28
Squamous cell carcinoma of the oesophagus in a patient with Klippel-Trenaunay syndrome. (11564964)
2001
29
Hyperbaric oxygen delivery in treatment of a child with Klippel-Trenaunay syndrome complicated with a limb threatening Escherichia coli infection. (10823397)
2000
30
TMJ morphology and function in a patient with Klippel-Trenaunay syndrome. Case report. (10863881)
2000
31
Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes. (10712200)
2000
32
Application of the surface rendering technique of three-dimensional ultrasound in prenatal diagnosis and counselling of Klippel-Trenaunay-Weber syndrome. (9556049)
1998
33
Klippel-Trenaunay-Weber syndrome with adrenal pseudocyst: characterization by blood pool and adrenocortical iodocholesterol scintigraphy. (9712387)
1998
34
Esophageal variceal bleeding caused by hypoplasia of the portal vein in a patient with the Klippel-Trenaunay syndrome. (9468262)
1998
35
Picture of the month. Klippel-Trenaunay syndrome. (9811297)
1998
36
Extensive small bowel varices as a cause of severe anemia in Klippel-Trenaunay-Weber syndrome. (9820414)
1998
37
Klippel-Trenaunay syndrome. (9781914)
1998
38
Klippel-Trenaunay-Weber syndrome: three-dimensional sonographic imaging. (8553985)
1996
39
Klippel Trenaunay syndrome: a case involving both lower limbs in association with Marfanoid habitus. (9251404)
1996
40
Klippel-Trenaunay-Weber syndrome with hemimegalencephaly: report of one case. (8935415)
1996
41
Klippel-Trenaunay syndrome: clinical features, complications and management in children. (7542989)
1995
42
The Klippel-Trenaunay syndrome: a rare cause of hematuria requiring nephrectomy. (8283536)
1994
43
Pictorial review: the imaging features of lower limb Klippel-Trenaunay syndrome. (8013203)
1994
44
Klippel-Trenaunay syndrome. (8395071)
1993
45
Proteus syndrome: report of the first Japanese case with special reference to differentiation from Klippel-Trenaunay-Weber syndrome. (1328340)
1992
46
Evaluation of Klippel-Trenaunay syndrome with radionuclide total body angiography. A case report. (1330394)
1992
47
Case report: jejunal vascular malformation in Klippel-Trenaunay syndrome. (1653127)
1991
48
Computed tomography and ultrasound findings in Klippel-Trenaunay syndrome. (6302141)
1983
49
A case of the Klippel-Trenaunay-Parkes Weber syndrome. (50699)
1975
50
Klippel Trenaunay syndrome involving the upper extremity. (5523188)
1970

Genetic Variations for Klippel-Trenaunay Syndrome

Expression for genes affiliated with Klippel-Trenaunay Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
4Cell Signaling Technology, 52QIAGEN
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Pathways related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4NOTCH4, TEK, FLT4
2
Hide members
8.5FLT4, TNFSF12, TEK, SEMA4B, ACVRL1
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

Sources:
11DrugBank, 45Novoseek
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Compounds related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Regorafenib119.7TEK, FLT4
2vegf458.2SERPINC1, TEK, ACVRL1, NOTCH4, FLT4

GO Terms for genes affiliated with Klippel-Trenaunay Syndrome

Sources:
16Gene Ontology
See all sources

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
1embryonic heart tube developmentGO:03505010.2FOXC2, SOX18
2lymphatic endothelial cell differentiationGO:06083610.2ACVRL1, SOX18
3endothelial tube morphogenesisGO:06115410.2CCM2, ACVRL1
4negative regulation of endothelial cell differentiationGO:04560210.0ACVRL1, NOTCH4
5negative regulation of endothelial cell migrationGO:01059610.0KRIT1, ACVRL1
6vascular endothelial growth factor receptor signaling pathwayGO:04801010.0FLT4, FOXC2
7negative regulation of endothelial cell apoptotic processGO:200035210.0TEK, KRIT1
8negative regulation of endothelial cell proliferationGO:0019379.9KRIT1, ACVRL1
9sprouting angiogenesisGO:0020409.9TEK, FLT4
10positive regulation of endothelial cell migrationGO:0105959.8FLT4, FOXC2, TEK
11lymphangiogenesisGO:0019469.7FLT4, FOXC2, SOX18, ACVRL1
12positive regulation of angiogenesisGO:0457669.7AGGF1, TEK, TNFSF12
13vasculature developmentGO:0019449.7FLT4, SOX18
14positive regulation of Ras GTPase activityGO:0323209.5SYNGAP1, RASA1
15negative regulation of Ras protein signal transductionGO:0465809.3SYNGAP1, RASA1
16positive regulation of transcription, DNA-dependentGO:0458939.3SOX18, ACVRL1, NOTCH4, FOXC2, NDP
17vasculogenesisGO:0015709.3CCM2, RASA1, GLMN, AGGF1, SOX18
18positive regulation of endothelial cell proliferationGO:0019389.2AGGF1, TEK, TNFSF12, FLT4, ACVRL1
19negative regulation of apoptotic processGO:0430669.1PDCD10, FOXC2, FLT4, TEK, SYNGAP1
20angiogenesisGO:0015258.8TEK, SOX18, PDCD10, TNFSF12, AGGF1, KRIT1

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

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

Products for genes affiliated with Klippel-Trenaunay Syndrome

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Sources for Klippel-Trenaunay Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet