KTS
MCID: KLP002
MIFTS: 69

Klippel-Trenaunay Syndrome (KTS) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Klippel-Trenaunay Syndrome

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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 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

Aliases & Classifications for Klippel-Trenaunay Syndrome

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 46OMIM, 9diseasecard, 22GTR, 20GeneTests, 48Orphanet, 62UMLS, 27ICD9CM, 39NCIt, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet
See all sources

Klippel-Trenaunay Syndrome, Aliases & Descriptions:

Name: Klippel-Trenaunay Syndrome 8 42 21 43 10 44 46
Klippel-Trenaunay-Weber Syndrome 8 9 42 21 46
Angio-Osteohypertrophy Syndrome 42 21
Klippel Trenaunay Syndrome 42 22
Weber-Klippel-Trenaunay 42 20
Ktw Syndrome 42 21
Kts 42 21
Klippel-Trénaunay-Weber Syndrome 48
 
Congenital Dysplastic Angiopathy 21
Angioosteohypertrophic Syndrome 48
Angioosteohypertrophy Syndrome 8
Haemangiectatic Hypertrophy 8
Klippel-Trénaunay Syndrome 48
Klippel-Trenaunay Disease 21
Weber Klippel Trenaunay 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

Disease Ontology8 DOID:2926
ICD9CM27 759.89
NCIt39 C84801
SNOMED-CT57 59078009
MeSH34 D007715
ICD10 via Orphanet26 Q87.2

Related Diseases for Klippel-Trenaunay Syndrome

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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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Symptoms by clinical synopsis from OMIM:

149000

Clinical features from OMIM:

149000,608355

Symptoms:

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

HPO human phenotypes related to Klippel-Trenaunay Syndrome:

(show all 74)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 macrocephaly hallmark (90%) HP:0000256
3 cataract hallmark (90%) HP:0000518
4 cutis marmorata hallmark (90%) HP:0000965
5 cavernous hemangioma hallmark (90%) HP:0001048
6 split hand hallmark (90%) HP:0001171
7 scoliosis hallmark (90%) HP:0002650
8 venous insufficiency hallmark (90%) HP:0005293
9 finger syndactyly hallmark (90%) HP:0006101
10 teleangiectasia of the skin hallmark (90%) HP:0100585
11 large face hallmark (90%) HP:0100729
12 visceral angiomatosis hallmark (90%) HP:0100761
13 skin ulcer hallmark (90%) HP:0200042
14 abnormality of the skin hallmark (90%) HP:0000951
15 venous insufficiency hallmark (90%) HP:0005293
16 lower limb asymmetry hallmark (90%) HP:0100559
17 multiple lipomas typical (50%) HP:0001012
18 hand polydactyly typical (50%) HP:0001161
19 seizures typical (50%) HP:0001250
20 abnormality of the tricuspid valve typical (50%) HP:0001702
21 abnormality of coagulation typical (50%) HP:0001928
22 gastrointestinal hemorrhage typical (50%) HP:0002239
23 cognitive impairment typical (50%) HP:0100543
24 tall stature typical (50%) HP:0000098
25 pulmonary embolism typical (50%) HP:0002204
26 gastrointestinal hemorrhage typical (50%) HP:0002239
27 thrombophlebitis typical (50%) HP:0004418
28 cellulitis typical (50%) HP:0100658
29 tall stature occasional (7.5%) HP:0000098
30 abnormality of the menstrual cycle occasional (7.5%) HP:0000140
31 facial asymmetry occasional (7.5%) HP:0000324
32 hematuria occasional (7.5%) HP:0000790
33 melanocytic nevus occasional (7.5%) HP:0000995
34 lymphedema occasional (7.5%) HP:0001004
35 congestive heart failure occasional (7.5%) HP:0001635
36 pulmonary embolism occasional (7.5%) HP:0002204
37 bone pain occasional (7.5%) HP:0002653
38 thrombophlebitis occasional (7.5%) HP:0004418
39 lower limb asymmetry occasional (7.5%) HP:0100559
40 cellulitis occasional (7.5%) HP:0100658
41 macrodactyly of finger occasional (7.5%) HP:0100746
42 peripheral arteriovenous fistula occasional (7.5%) HP:0100784
43 abnormality of the menstrual cycle occasional (7.5%) HP:0000140
44 microcephaly occasional (7.5%) HP:0000252
45 macrocephaly occasional (7.5%) HP:0000256
46 hematuria occasional (7.5%) HP:0000790
47 ascites occasional (7.5%) HP:0001541
48 defect in the atrial septum occasional (7.5%) HP:0001631
49 congestive heart failure occasional (7.5%) HP:0001635
50 patent ductus arteriosus occasional (7.5%) HP:0001643
51 abnormality of the tricuspid valve occasional (7.5%) HP:0001702
52 hydrops fetalis occasional (7.5%) HP:0001789
53 microcytic anemia occasional (7.5%) HP:0001935
54 respiratory insufficiency occasional (7.5%) HP:0002093
55 hepatomegaly occasional (7.5%) HP:0002240
56 abnormality of the pulmonary artery occasional (7.5%) HP:0004414
57 cognitive impairment occasional (7.5%) HP:0100543
58 hypercoagulability occasional (7.5%) HP:0100724
59 peripheral arteriovenous fistula occasional (7.5%) HP:0100784
60 glaucoma HP:0000501
61 lymphedema HP:0001004
62 hemangioma HP:0001028
63 syndactyly HP:0001159
64 hand polydactyly HP:0001161
65 oligodactyly (hands) HP:0001180
66 intellectual disability HP:0001249
67 seizures HP:0001250
68 hemihypertrophy HP:0001528
69 abnormality of blood and blood-forming tissues HP:0001871
70 sporadic HP:0003745
71 macrodactyly HP:0004099
72 arteriovenous fistula HP:0004947
73 hyperpigmented nevi and streak HP:0005606
74 lymphangioma HP:0100764

Drugs & Therapeutics for Klippel-Trenaunay Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Klippel-Trenaunay Syndrome

Genetic Tests for Klippel-Trenaunay Syndrome

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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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MalaCards organs/tissues related to Klippel-Trenaunay Syndrome:

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

Animal Models for Klippel-Trenaunay Syndrome or affiliated genes

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Publications for Klippel-Trenaunay Syndrome

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Articles related to Klippel-Trenaunay Syndrome:

(show top 50)    (show all 278)
idTitleAuthorsYear
1
Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth. (24478251)
2014
2
Portomesenteric thrombosis and hypertension in Klippel-Trenaunay syndrome. (25298956)
2014
3
Misdiagnosis of Klippel-Trenaunay syndrome. (24583451)
2014
4
Klippel-Trenaunay Syndrome Causing Life-Threatening GI Bleeding: A Case Report and Review of the Literature. (23862081)
2013
5
Phacomatosis cesioflammea with Klippel Trenaunay syndrome: A rare association. (23984239)
2013
6
Diverse manifestations and management options in Klippel-Trenaunay syndrome: a single centre 10-year experience. (23710784)
2013
7
Fat embolism after liposuction in Klippel-Trenaunay syndrome. (23851798)
2013
8
Endovenous radiofrequency ablation and combined foam sclerotherapy treatment of multiple refluxing perforator veins in a Klippel-Trenaunay syndrome patient. (23868201)
2013
9
Conus medullaris-cauda arteriovenous malformation and Klippel-Trenaunay syndrome: what is the treatment goal? (23438663)
2013
10
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
11
Overlap of sturge-weber syndrome and klippel-trenaunay syndrome. (22345790)
2011
12
Successful Management of Pregnancy Complicated by Klippel-Trenaunay Syndrome Using MR Angiography-Based Evaluation. (22567516)
2011
13
Indirect MR venography for evaluation and therapy planning of patients with Klippel-Trenaunay syndrome. (20093583)
2010
14
Postoperative pulmonary embolism in a three year old with Klippel-Trenaunay syndrome. (23754873)
2009
15
Klippel-Trenaunay syndrome and cerebral haemangiopericytoma: a potential association. (18297229)
2008
16
Skin ulcers in Klippel-Trenaunay syndrome respond to sunitinib. (18355766)
2008
17
Total hip arthroplasty in Klippel-Trenaunay syndrome. (18990275)
2008
18
Klippel-trenaunay syndrome. (23132972)
2007
19
Klippel-Trenaunay syndrome: incidence and treatment of genitourinary sequelae. (17382698)
2007
20
Hemodynamic impairment, venous segmental disease, and clinical severity scoring in limbs with Klippel-Trenaunay syndrome. (17275246)
2007
21
Inverse Klippel-Trenaunay syndrome: review of cases showing deficient growth. (17341861)
2007
22
Bipolar affective disorder with Klippel-Trenaunay syndrome. (17924248)
2007
23
Evaluation and management of pain in patients with Klippel-Trenaunay syndrome: a review. (15741381)
2005
24
Klippel-Trenaunay syndrome. (15984958)
2005
25
Klippel--Trenaunay syndrome: association with absence of ipsilateral testis. (17642673)
2004
26
Surgical eradication of esophageal carcinoma in a patient with Klippel-Trenaunay syndrome. (15357114)
2004
27
Klippel-Trenaunay syndrome with involvement of coecum and rectum: a rare cause of lower gastrointestinal bleeding. (15649861)
2004
28
Leiomyoma of the diaphragm in a child with Klippel Trenaunay syndrome. (15043675)
2004
29
Klippel-Trenaunay syndrome and Sturge-Weber syndrome: variations on a theme? (12804981)
2003
30
Relief of iliofemoral vein occlusion with the Palma bypass in a patient with Klippel Trenaunay syndrome. (14670026)
2003
31
Factor VII deficiency and a copper metabolism disorder in a patient with Klippel-Trenaunay syndrome. (12037456)
2002
32
Early surgical management of Klippel-Trenaunay syndrome in childhood can prevent long-term haemodynamic effects of distal venous hypertension. (11819205)
2002
33
Hyperbaric oxygen delivery in treatment of a child with Klippel-Trenaunay syndrome complicated with a limb threatening Escherichia coli infection. (10823397)
2000
34
Successful pulmonary thromboendarterectomy in a patient with Klippel-Trenaunay syndrome. (10807850)
2000
35
Epidural analgesia in an obstetric patient with Klippel-Trenaunay syndrome. (10325854)
1999
36
Case report: MRI of Klippel-Trenaunay syndrome: use of the short tau inversion recovery (STIR) sequence. (8937328)
1996
37
Major conduction anesthesia in a patient with Klippel-Trenaunay Syndrome. (7546759)
1995
38
Pregnancy complicated by the Klippel-Trenaunay syndrome. A case report. (7776315)
1995
39
A case illustrating Proteus and Klippel-Trenaunay syndrome overlap. (8078049)
1993
40
Anesthesia for patients with Sturge-Weber disease and Klippel-Trenaunay syndrome. (1657059)
1991
41
Klippel-Trenaunay syndrome: the risks and benefits of vascular interventions. (1653464)
1991
42
The Klippel-Trenaunay syndrome. (1846865)
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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Clinvar genetic disease variations for Klippel-Trenaunay Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1RASA1RASA1, 2-BP DEL, 475CTdeletionPathogenic

Expression for genes affiliated with Klippel-Trenaunay Syndrome

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Expression patterns in normal tissues for genes affiliated with Klippel-Trenaunay Syndrome

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Pathways for genes affiliated with Klippel-Trenaunay Syndrome

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Compounds for genes affiliated with Klippel-Trenaunay Syndrome

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Sources:
44Novoseek, 28IUPHAR, 50PharmGKB, 11DrugBank
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Compounds related to Klippel-Trenaunay Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1diltiazem44 28 50 1112.3KRIT1, SERPINC1
2regorafenib50 1110.2TEK, FLT4
3arginine448.9NDP, KRIT1, RASA1, SERPINC1
4vegf447.6NOTCH4, ACVRL1, FLT4, SERPINC1, TEK

GO Terms for genes affiliated with Klippel-Trenaunay Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099868.0NDP, NOTCH4, ACVRL1, TEK
2extracellular regionGO:0055767.9AGGF1, NOTCH4, FLT4, SERPINC1, TEK
3integral component of plasma membraneGO:0058877.4TEK, 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
2vascular endothelial growth factor receptor signaling pathwayGO:04801010.0FLT4, FOXC2
3lymphatic endothelial cell differentiationGO:06083610.0ACVRL1, SOX18
4vasculature developmentGO:00194410.0SOX18, FLT4
5endothelial tube morphogenesisGO:0611549.9ACVRL1, CCM2
6negative regulation of endothelial cell migrationGO:0105969.9KRIT1, ACVRL1
7negative regulation of cell adhesionGO:0071629.7ACVRL1, RASA1
8blood vessel remodelingGO:0019749.7ACVRL1, FOXC2
9negative regulation of endothelial cell proliferationGO:0019379.7KRIT1, ACVRL1
10negative regulation of endothelial cell differentiationGO:0456029.7NOTCH4, ACVRL1
11negative regulation of endothelial cell apoptotic processGO:20003529.5KRIT1, TEK
12vasculogenesisGO:0015709.5AGGF1, GLMN, RASA1, CCM2, SOX18
13sprouting angiogenesisGO:0020409.4TEK, FLT4
14lymphangiogenesisGO:0019469.4SOX18, FLT4, FOXC2, ACVRL1
15positive regulation of endothelial cell migrationGO:0105959.3FOXC2, FLT4, TEK
16patterning of blood vesselsGO:0015699.3NOTCH4, FOXC2
17positive regulation of angiogenesisGO:0457669.3TEK, TNFSF12, AGGF1
18in utero embryonic developmentGO:0017019.3SOX18, CCM2, ACVRL1
19negative regulation of apoptotic processGO:0430668.9PDCD10, FOXC2, FLT4, TEK
20positive regulation of transcription, DNA-templatedGO:0458938.7SOX18, FOXC2, ACVRL1, NOTCH4, NDP
21positive regulation of endothelial cell proliferationGO:0019388.4TEK, TNFSF12, FLT4, ACVRL1, AGGF1
22signal transductionGO:0071658.3TEK, TNFSF12, ACVRL1, RASA1, NDP
23angiogenesisGO:0015257.9AGGF1, 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:0047149.3FLT4, TEK
2growth factor bindingGO:0198389.0FLT4, TEK
3protein bindingGO:0055154.9AGGF1, TEK, TNFSF12, SERPINC1, FLT4, CCM2

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet