MCID: KLP010
MIFTS: 48

Klippel-Trenaunay-Weber Syndrome malady

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

Summaries for Klippel-Trenaunay-Weber Syndrome

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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 based summary: Klippel-Trenaunay-Weber Syndrome, also known as klippel-trenaunay syndrome, is related to weber syndrome and hemangioma, and has symptoms including abnormality of the skin, venous insufficiency and lower limb asymmetry. An important gene associated with Klippel-Trenaunay-Weber Syndrome is AGGF1 (angiogenic factor with G patch and FHA domains 1). Affiliated tissues include bone, skin and heart.

Disease Ontology:10 A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.

Genetics Home Reference:23 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

Aliases & Classifications for Klippel-Trenaunay-Weber Syndrome

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 23Genetics Home Reference, 44NINDS, 12DISEASES, 45Novoseek, 49Orphanet, 22GeneTests, 24GTR, 29ICD9CM, 57SNOMED-CT, 40NCIt, 62UMLS, 35MeSH, 28ICD10 via Orphanet
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Klippel-Trenaunay-Weber Syndrome, Aliases & Descriptions:

Name: Klippel-Trenaunay-Weber Syndrome 47 10 11 43 23
Klippel-Trenaunay Syndrome 10 43 23 44 12 45
Angio-Osteohypertrophy Syndrome 43 23
Klippel-Trénaunay Syndrome 43 49
Klippel-Trenaunay Disease 23 24
Weber-Klippel-Trenaunay 43 22
 
Ktw Syndrome 43 23
Kts 43 23
Congenital Dysplastic Angiopathy 23
Angioosteohypertrophy Syndrome 10
Haemangiectatic Hypertrophy 10
Klippel Trenaunay Syndrome 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
klippel-trénaunay syndrome:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (United States),<1/1000000 (Europe); Age of onset: Infancy,Neonatal


External Ids:

OMIM47 149000
Disease Ontology10 DOID:2926
ICD9CM29 759.89
NCIt40 C84801
SNOMED-CT57 59078009
MeSH35 D007715
Orphanet49 90308
ICD10 via Orphanet28 Q87.2

Related Diseases for Klippel-Trenaunay-Weber Syndrome

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Graphical network of the top 20 diseases related to Klippel-Trenaunay-Weber Syndrome:



Diseases related to klippel-trenaunay-weber syndrome

Symptoms for Klippel-Trenaunay-Weber Syndrome

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Symptoms by clinical synopsis from OMIM:

149000

Clinical features from OMIM:

149000

Symptoms:

 49 (show all 32)
  • upper limb asymmetry/hemiatrophy/hemihypertrophy
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • varices/varicous veins/venous insufficiency
  • anomalies of bones/skeletal anomalies
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • pulmonary thromboembolism
  • venous thrombosis/phlebitis/thrombophlebitis
  • autosomal dominant inheritance
  • tall stature/gigantism/growth acceleration
  • skull/cranial anomalies
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • microcephaly
  • cutaneous edema
  • ascitis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • tricuspid valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • peripheral arteriovenous fistula
  • heart/cardiac failure
  • hematuria/microhematuria
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • microcytic anemia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • internal hemorrhage
  • blood hyperviscosity/hypercoagulability
  • hydrops fetalis

HPO human phenotypes related to Klippel-Trenaunay-Weber Syndrome:

(show all 40)
id Description Frequency HPO Source Accession
1 abnormality of the skin hallmark (90%) HP:0000951
2 venous insufficiency hallmark (90%) HP:0005293
3 lower limb asymmetry hallmark (90%) HP:0100559
4 tall stature typical (50%) HP:0000098
5 pulmonary embolism typical (50%) HP:0002204
6 gastrointestinal hemorrhage typical (50%) HP:0002239
7 thrombophlebitis typical (50%) HP:0004418
8 cellulitis typical (50%) HP:0100658
9 abnormality of the menstrual cycle occasional (7.5%) HP:0000140
10 microcephaly occasional (7.5%) HP:0000252
11 macrocephaly occasional (7.5%) HP:0000256
12 hematuria occasional (7.5%) HP:0000790
13 ascites occasional (7.5%) HP:0001541
14 defect in the atrial septum occasional (7.5%) HP:0001631
15 congestive heart failure occasional (7.5%) HP:0001635
16 patent ductus arteriosus occasional (7.5%) HP:0001643
17 abnormality of the tricuspid valve occasional (7.5%) HP:0001702
18 hydrops fetalis occasional (7.5%) HP:0001789
19 microcytic anemia occasional (7.5%) HP:0001935
20 respiratory insufficiency occasional (7.5%) HP:0002093
21 hepatomegaly occasional (7.5%) HP:0002240
22 abnormality of the pulmonary artery occasional (7.5%) HP:0004414
23 cognitive impairment occasional (7.5%) HP:0100543
24 hypercoagulability occasional (7.5%) HP:0100724
25 peripheral arteriovenous fistula occasional (7.5%) HP:0100784
26 glaucoma HP:0000501
27 lymphedema HP:0001004
28 hemangioma HP:0001028
29 syndactyly HP:0001159
30 hand polydactyly HP:0001161
31 oligodactyly (hands) HP:0001180
32 intellectual disability HP:0001249
33 seizures HP:0001250
34 hemihypertrophy HP:0001528
35 abnormality of blood and blood-forming tissues HP:0001871
36 sporadic HP:0003745
37 macrodactyly HP:0004099
38 arteriovenous fistula HP:0004947
39 hyperpigmented nevi and streak HP:0005606
40 lymphangioma HP:0100764

Drugs & Therapeutics for Klippel-Trenaunay-Weber Syndrome

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Drug clinical trials:

Search ClinicalTrials for Klippel-Trenaunay-Weber Syndrome

Search NIH Clinical Center for Klippel-Trenaunay-Weber Syndrome

Genetic Tests for Klippel-Trenaunay-Weber Syndrome

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Genetic tests related to Klippel-Trenaunay-Weber Syndrome:

id Genetic test Affiliating Genes
1 Klippel-Trenaunay-Weber Syndrome22
2 Klippel Trenaunay Syndrome24

Anatomical Context for Klippel-Trenaunay-Weber Syndrome

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

33
Bone, Skin, Heart, Liver, Lung, Spinal cord, Spleen, Testis

Animal Models for Klippel-Trenaunay-Weber Syndrome or affiliated genes

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Publications for Klippel-Trenaunay-Weber Syndrome

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Articles related to Klippel-Trenaunay-Weber Syndrome:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
Klippel-Trenaunay-Weber syndrome-associated arterial and venous malformations in the lower uterine segment. (25222156)
2014
2
Photoclinic. Co-existence of Abernethy malformation and Klippel-Trenaunay-Weber syndrome. (25065286)
2014
3
Thoracic vertebral hemangioma causing paraplegia in Klippel-Trenaunay-Weber syndrome: case report. (24101274)
2013
4
Terminal deletion 2q37.3 in a patient with Klippel-Trenaunay-Weber syndrome. (23438794)
2013
5
Coronary anomalies in Klippel-Trenaunay-Weber syndrome: multidetector computed tomography and cardiac magnetic resonance study of a rare association. (22898712)
2013
6
Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome. (23161195)
2012
7
A girl of Klippel-Trenaunay Weber syndrome coexistence of recurrent bloody vaginal discharge. (19768566)
2010
8
Control of disseminated intravascular coagulation in Klippel-Trenaunay-Weber syndrome using enoxaparin and recombinant activated factor VIIa: a case report. (20302608)
2010
9
Open-bite orthodontic-surgical treatment in the Klippel-Trenaunay-Weber syndrome: a case report. (20451830)
2010
10
Persistent fetal vasculature and spontaneous hyphema in a patient with Klippel-Trenaunay-Weber syndrome. (20736130)
2010
11
Multiple cerebral and spinal cord cavernomas in Klippel-Trenaunay-Weber syndrome. (20493710)
2010
12
Klippel-Trenaunay-Weber syndrome: orodental manifestations and management considerations. (19464652)
2009
13
Management of a femoral diaphyseal fracture in a patient with Klippel-Trenaunay-Weber syndrome: a case report. (19918405)
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
Klippel-Trenaunay-Weber syndrome with partial motor seizures and hemimegalencephaly. (21063293)
2008
17
Management of urethral hemangiomas associated with Klippel-Trenaunay-Weber syndrome by endoscopic sclerotherapy. (17645615)
2007
18
Re: Urogenital involvement in the Klippel-Trenaunay-Weber Syndrome. Treatment options and results. (17488549)
2007
19
Klippel-Trenaunay-Weber syndrome and intramedullary cervical cavernoma: a very rare association. Case report. (16876633)
2006
20
Deviated nasal septum in case of Klippel-Trenaunay-Weber Syndrome. (23120322)
2006
21
Urogenital involvement in the Klippel-Trenaunay-Weber syndrome. Treatment options and results. (17201948)
2006
22
Prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome: a case report. (15916215)
2005
23
Images in cardiovascular medicine. Klippel-Trenaunay-Weber syndrome. (15668346)
2005
24
Sciatic nerve enlargement in the Klippel-Trenaunay-Weber syndrome. (15897045)
2005
25
Charcot osteoarthropathy in a case of Klippel-Trenaunay-Weber syndrome. (14587998)
2003
26
Klippel-Trenaunay-Weber syndrome and duodenal hemorrhage. (14595316)
2003
27
Vesical hemangioma in patient with Klippel-Trenaunay-Weber syndrome. (15745499)
2003
28
An unusual case of Sturge-Weber syndrome in association with phakomatosis pigmentovascularis and Klippel-Trenaunay-Weber syndrome. (12055477)
2002
29
Klippel-trenaunay weber syndrome. (23119853)
2002
30
Myelopathy due to scoliosis with vertebral hypertrophy in Klippel-Trenaunay-Weber syndrome. (11880917)
2002
31
Direct MR venography of persistent sciatic vein in a patient with Klippel-Trenaunay-Weber syndrome. (11804934)
2002
32
An unusual postextraction hemorrhage associated with Klippel-Trenaunay-Weber syndrome. (11213990)
2001
33
Klippel-Trenaunay-Weber syndrome: role of EUS. (11677496)
2001
34
Klippel-Trenaunay-Weber syndrome presenting as massive lymphangiohemangioma of the thigh: prenatal diagnosis. (11005126)
2000
35
Prenatal sonographic appearances of Klippel-Trenaunay-Weber syndrome. (10327144)
1999
36
Klippel-Trenaunay-Weber syndrome in pregnancy and at delivery. (15512232)
1999
37
Recurrent pulmonary embolism associated with Klippel-Trenaunay-Weber syndrome. (10208231)
1999
38
Application of the surface rendering technique of three-dimensional ultrasound in prenatal diagnosis and counselling of Klippel-Trenaunay-Weber syndrome. (9556049)
1998
39
Klippel-Trenaunay-Weber syndrome with adrenal pseudocyst: characterization by blood pool and adrenocortical iodocholesterol scintigraphy. (9712387)
1998
40
Klippel-Trenaunay-Weber syndrome. (9314616)
1997
41
Klippel-Trenaunay-Weber syndrome. (9479895)
1997
42
Gram-negative bacteremia in four patients with Klippel-Trenaunay-Weber syndrome. (8628620)
1996
43
Klippel-Trenaunay-Weber syndrome: three-dimensional sonographic imaging. (8553985)
1996
44
Klippel-Trenaunay-Weber syndrome mimicking pyoderma gangrenosum. (8537163)
1995
45
Splenic lymphangioma. An unusual manifestation of the Klippel-Trenaunay-Weber syndrome. (8521671)
1995
46
Klippel Trenaunay Weber syndrome associated with abdominal hamartoma with undescended testis. (8617545)
1995
47
Prenatal ultrasonic appearance of the Klippel-Trenaunay-Weber syndrome mimicking sacrococcygeal teratoma with an elevated level of maternal serum hCG. (8177838)
1993
48
Proteus syndrome: report of the first Japanese case with special reference to differentiation from Klippel-Trenaunay-Weber syndrome. (1328340)
1992
49
Congenital nystagmus, anisomyopia, and hemimegalencephaly in the Klippel-Trenaunay-Weber syndrome. (1850461)
1991
50
Klippel-Trenaunay-Weber syndrome with melorheostosis. (6317628)
1983

Variations for Klippel-Trenaunay-Weber Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Klippel-Trenaunay-Weber Syndrome:

64
id Symbol AA change Variation ID SNP ID
1AGGF1p.Glu133LysVAR_017901rs34203073

Expression for genes affiliated with Klippel-Trenaunay-Weber Syndrome

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

Pathways for genes affiliated with Klippel-Trenaunay-Weber Syndrome

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Compounds for genes affiliated with Klippel-Trenaunay-Weber Syndrome

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GO Terms for genes affiliated with Klippel-Trenaunay-Weber Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055769.3AGGF1, SST

Products for genes affiliated with Klippel-Trenaunay-Weber Syndrome

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Sources for Klippel-Trenaunay-Weber Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet