KTS
MCID: KLP010
MIFTS: 54

Klippel-Trenaunay-Weber Syndrome (KTS) malady

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Klippel-Trenaunay-Weber Syndrome

Aliases & Descriptions for Klippel-Trenaunay-Weber Syndrome:

Name: Klippel-Trenaunay-Weber Syndrome 54 12 50 24 13 42 50
Klippel-Trenaunay Syndrome 12 50 25 51 66 52 14
Kts 50 24 25 66
Angio-Osteohypertrophy Syndrome 50 25
Klippel-Trénaunay Syndrome 56 29
Ktw Syndrome 50 24
Congenital Dysplastic Angiopathy 25
Angioosteohypertrophy Syndrome 12
Haemangiectatic Hypertrophy 12
Klippel Trenaunay Syndrome 50
Klippel-Trenaunay Disease 25
Weber-Klippel-Trenaunay 50
Weber Klippel Trenaunay 69

Characteristics:

Orphanet epidemiological data:

56
klippel-trénaunay syndrome
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (United States),<1/1000000 (Europe); Age of onset: Infancy,Neonatal;

HPO:

32
klippel-trenaunay-weber syndrome:
Inheritance sporadic


Classifications:



External Ids:

OMIM 54 149000
Disease Ontology 12 DOID:2926
ICD10 33 Q87.2
MeSH 42 D007715
NCIt 47 C84801
SNOMED-CT 64 59078009
Orphanet 56 ORPHA90308
ICD10 via Orphanet 34 Q87.2
MedGen 40 C0022739
UMLS 69 C0022739

Summaries for Klippel-Trenaunay-Weber Syndrome

NINDS : 51 Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue.  Typical symptoms include hemangiomas (abnormal benign growths on the skin consisting of masses of blood vessels) and varicose veins.  Fused toes or fingers, or extra toes or fingers, may be present.  In some cases, internal bleeding may occur as a result of blood vessel malformations involving organs such as the stomach, rectum, vagina, liver, spleen, bladder, kidneys, lungs, or heart.  Individuals are also at risk for blood clots. The cause of the disorder is unknown. A similar port-wine stain disorder in which individuals have vascular anomalies on the face as well as in the brain is Sturge-Weber syndrome. These individuals may experience seizures and mental deficiency.  In some cases, features of the Klippel-Trenaunay syndrome and Sturge-Weber syndrome coincide.  Another overlapping condition is the Parkes-Weber syndrome, which is characterized by abnormal connectivity between the arterial and venous system (arteriovenous fistulas).

MalaCards based summary : Klippel-Trenaunay-Weber Syndrome, also known as klippel-trenaunay syndrome, is related to inverse klippel-trénaunay syndrome and hemihyperplasia, isolated, and has symptoms including macrocephaly, intellectual disability and respiratory insufficiency. An important gene associated with Klippel-Trenaunay-Weber Syndrome is AGGF1 (Angiogenic Factor With G-Patch And FHA Domains 1), and among its related pathways/superpathways is G-protein signaling_Rap1A regulation pathway. The drugs Tranexamic Acid and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related phenotypes are cardiovascular system and growth/size/body region

Disease Ontology : 12 A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.

Genetics Home Reference : 25 Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), 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.

NIH Rare Diseases : 50 klippel-trenaunay syndrome (kts) is a syndrome that affects the development of blood vessels, soft tissues, and bones. this syndrome has three characteristic features: a red birthmark called a port-wine stain; overgrowth of soft tissues and bones; and vein malformations such as varicose veins or malformations of deep veins in the limbs. the overgrowth of bones and soft tissues usually begins in infancy and is most often limited to one leg. however, it can also affect the arms or sometimes the upper body area (torso). the overgrowth can cause pain, a feeling of heaviness, and make the affected leg (or arm) hard to move. most, if not all, cases of kts are caused by somatic mutations in the pik3ca gene. medical researchers believe kts is part of a group of disorders known as pik3ca-related overgrowth spectrum (pros) which also includes mcap and cloves syndromes, hemimegalencephaly, fibroadipose hyperplasia, and epidermal nevus. treatment is symptomatic and supportive. last updated: 11/14/2016

UniProtKB/Swiss-Prot : 66 Klippel-Trenaunay syndrome: Congenital disease characterized by malformations of capillary (98% of KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and soft tissue hypertrophy that leads to large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.

Description from OMIM: 149000

Related Diseases for Klippel-Trenaunay-Weber Syndrome

Diseases related to Klippel-Trenaunay-Weber Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
id Related Disease Score Top Affiliating Genes
1 inverse klippel-trénaunay syndrome 12.1
2 hemihyperplasia, isolated 11.4
3 angioosteohypertrophic syndrome 11.3
4 weber syndrome 11.0
5 skin creases, congenital symmetric circumferential, 1 10.8
6 hemimegalencephaly 10.4
7 hemangioma 10.4
8 cerebritis 10.3
9 lymphangioma 10.3
10 pulmonary embolism 10.3
11 hemihypertrophy 10.2
12 hydronephrosis 10.2
13 angiomatosis 10.2
14 arteriovenous malformation 10.2
15 myasthenic syndrome, congenital, 15, without tubular aggregates 10.1 GLMN KRIT1
16 hypomelanosis of ito 10.1 FLT4 GLMN
17 pilomyxoid astrocytoma 10.1 FLT4 GLMN
18 scoliosis 10.0
19 thrombosis 10.0
20 retinitis 10.0
21 vaginal discharge 10.0
22 pyoderma 10.0
23 aneurysm 10.0
24 disseminated intravascular coagulation 10.0
25 melorheostosis 10.0
26 paraplegia 10.0
27 cavernous malformation 10.0
28 bacteremia 10.0
29 nephrotic syndrome 10.0
30 urethritis 10.0
31 intestinal obstruction 10.0
32 pyoderma gangrenosum 10.0
33 lipoma 10.0
34 duodenitis 10.0
35 vaginitis 10.0
36 vesicoureteral reflux 10.0
37 arteriovenous fistula 10.0
38 congenital nystagmus 10.0
39 cervicitis 10.0
40 sacrococcygeal teratoma 10.0
41 glioblastoma multiforme 10.0
42 cavernous lymphangioma 10.0
43 osteoblastoma 10.0
44 teratoma 10.0
45 glioblastoma 10.0
46 coronary artery dissection, spontaneous 10.0 FOXC2 SOX18 SST
47 bartholin's gland transitional cell carcinoma 10.0 FOXC2 SOX18
48 congenital generalized lipodystrophy 10.0 FLT4 FOXC2
49 chondrodysplasia punctata 1, x-linked 10.0 CCM2 KRIT1 PDCD10
50 retinitis pigmentosa 68 9.9 CCM2 KRIT1 PDCD10

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



Diseases related to Klippel-Trenaunay-Weber Syndrome

Symptoms & Phenotypes for Klippel-Trenaunay-Weber Syndrome

Symptoms by clinical synopsis from OMIM:

149000

Clinical features from OMIM:

149000

Human phenotypes related to Klippel-Trenaunay-Weber Syndrome:

56 32 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 Occasional (29-5%) HP:0000256
2 intellectual disability 56 32 Occasional (29-5%) HP:0001249
3 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
4 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
5 microcephaly 56 32 Occasional (29-5%) HP:0000252
6 ascites 56 32 Occasional (29-5%) HP:0001541
7 hypercoagulability 56 32 Occasional (29-5%) HP:0100724
8 pulmonary embolism 56 32 Frequent (79-30%) HP:0002204
9 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
10 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
11 hydrops fetalis 56 32 Occasional (29-5%) HP:0001789
12 microcytic anemia 56 32 Occasional (29-5%) HP:0001935
13 venous thrombosis 56 32 Frequent (79-30%) HP:0004936
14 hematuria 56 32 Occasional (29-5%) HP:0000790
15 gastrointestinal hemorrhage 56 32 Frequent (79-30%) HP:0002239
16 cellulitis 56 32 Frequent (79-30%) HP:0100658
17 abnormality of the menstrual cycle 56 32 Occasional (29-5%) HP:0000140
18 prolonged bleeding time 56 32 Occasional (29-5%) HP:0003010
19 venous insufficiency 56 32 Very frequent (99-80%) HP:0005293
20 abnormality of the pulmonary artery 56 32 Occasional (29-5%) HP:0004414
21 lower limb asymmetry 56 32 Very frequent (99-80%) HP:0100559
22 peripheral arteriovenous fistula 56 32 Occasional (29-5%) HP:0100784
23 abnormality of the tricuspid valve 56 32 Occasional (29-5%) HP:0001702
24 tall stature 56 32 Frequent (79-30%) HP:0000098
25 upper limb asymmetry 56 32 Very frequent (99-80%) HP:0100560
26 hemangioma 56 32 Very frequent (99-80%) HP:0001028
27 edema 56 Occasional (29-5%)
28 seizures 32 HP:0001250
29 lymphedema 32 HP:0001004
30 atria septal defect 56 Occasional (29-5%)
31 abnormality of the skull 56 Occasional (29-5%)
32 glaucoma 32 HP:0000501
33 hand polydactyly 32 HP:0001161
34 internal hemorrhage 56 Occasional (29-5%)
35 abnormality of blood and blood-forming tissues 32 HP:0001871
36 hemihypertrophy 32 HP:0001528
37 lymphangioma 32 HP:0100764
38 macrodactyly 32 HP:0004099
39 syndactyly 32 HP:0001159
40 abnormality of skeletal morphology 56 Very frequent (99-80%)
41 arteriovenous fistula 32 HP:0004947
42 atrial septal defect 32 HP:0001631
43 hand oligodactyly 32 HP:0001180
44 hyperpigmented nevi and streak 32 HP:0005606

MGI Mouse Phenotypes related to Klippel-Trenaunay-Weber Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 PDCD10 RASA1 SOX18 AGGF1 CCM2 FLT4
2 growth/size/body region MP:0005378 10.02 SST CCM2 FLT4 FOXC2 GLMN KRIT1
3 embryo MP:0005380 10.01 AGGF1 CCM2 FLT4 FOXC2 GLMN KRIT1
4 mortality/aging MP:0010768 9.96 AGGF1 CCM2 FLT4 FOXC2 GLMN KRIT1
5 immune system MP:0005387 9.87 CCM2 FLT4 FOXC2 PDCD10 RASA1 SOX18
6 digestive/alimentary MP:0005381 9.83 FLT4 FOXC2 RASA1 SOX18 SST
7 muscle MP:0005369 9.63 CCM2 FLT4 FOXC2 KRIT1 PDCD10 RASA1
8 nervous system MP:0003631 9.56 AGGF1 CCM2 FOXC2 GLMN KRIT1 PDCD10
9 normal MP:0002873 9.1 CCM2 FLT4 FOXC2 PDCD10 SOX18 SST

Drugs & Therapeutics for Klippel-Trenaunay-Weber Syndrome

Drugs for Klippel-Trenaunay-Weber Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 3 1197-18-8 5526
2
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
5 Antifibrinolytic Agents Phase 3
6 Coagulants Phase 3
7 Hemostatics Phase 3
8 Anti-Bacterial Agents Phase 2, Phase 3
9 Antibiotics, Antitubercular Phase 2, Phase 3
10 Antifungal Agents Phase 2, Phase 3
11 Anti-Infective Agents Phase 2, Phase 3
12 Immunosuppressive Agents Phase 2, Phase 3
13 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
14 Anticonvulsants Phase 1, Phase 2
15 Angiogenesis Inhibitors Phase 2
16 Angiogenesis Modulating Agents Phase 2
17
Timolol Approved Phase 1 26839-75-8 33624 5478
18
Maleic acid Experimental Phase 1 110-16-7 444266
19 Adrenergic Agents Phase 1
20 Adrenergic Antagonists Phase 1
21 Adrenergic beta-Antagonists Phase 1
22 Anti-Arrhythmia Agents Phase 1
23 Antihypertensive Agents Phase 1
24 Lubricant Eye Drops Phase 1
25 Neurotransmitter Agents Phase 1
26 Ophthalmic Solutions Phase 1
27 Tetrahydrozoline Phase 1
28 Antibodies
29 Immunoglobulins
30 GTPase-Activating Proteins

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3
2 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Recruiting NCT03047980 Phase 2, Phase 3
3 Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome Completed NCT02080624 Phase 2
4 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2
5 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT01485224 Phase 2
6 Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS) Withdrawn NCT01997255 Phase 2
7 Use of the Atkins Diet for Children With Sturge Weber Syndrome Completed NCT00639730 Phase 1
8 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Recruiting NCT01533376 Phase 1
9 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
10 Biomarker Development in Sturge-Weber Syndrome Completed NCT01345305
11 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
12 Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Recruiting NCT01425944
13 Immunmodulation in Patients With HHT Recruiting NCT02983253
14 Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia Recruiting NCT02690246
15 Lymphatic Anomalies Registry Recruiting NCT02399527
16 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Recruiting NCT01761981
17 French National Cohort of Children With Port Wine Stain Active, not recruiting NCT01364857

Search NIH Clinical Center for Klippel-Trenaunay-Weber Syndrome

Cochrane evidence based reviews: klippel-trenaunay-weber syndrome

Genetic Tests for Klippel-Trenaunay-Weber Syndrome

Genetic tests related to Klippel-Trenaunay-Weber Syndrome:

id Genetic test Affiliating Genes
1 Klippel Trenaunay Syndrome 29
2 Klippel-Trenaunay-Weber Syndrome 24

Anatomical Context for Klippel-Trenaunay-Weber Syndrome

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

39
Bone, Skin, Heart, Spleen, Lung, Liver, Brain

Publications for Klippel-Trenaunay-Weber Syndrome

Articles related to Klippel-Trenaunay-Weber Syndrome:

(show top 50) (show all 98)
id Title Authors Year
1
A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics. ( 27141435 )
2016
2
A rare paediatric case of Klippel-Trenaunay-Weber syndrome. ( 25878760 )
2015
3
Combined Transarterial and Transvenous Approach for Curative Obliteration of Klippel-Trenaunay-Weber Syndrome-Associated Spinal Perimedullary Arteriovenous Fistulas. ( 25008156 )
2015
4
THE SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH KLIPPEL-TRENAUNAY-WEBER SYNDROME. ( 26349197 )
2015
5
Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero. ( 26578498 )
2015
6
A case of newly diagnosed klippel trenaunay weber syndrome presenting with nephrotic syndrome. ( 26000182 )
2015
7
Glioblastoma multiforme in Klippel-Trenaunay-Weber syndrome: a case report. ( 25890301 )
2015
8
An unusual presentation of pediatric osteoblastoma in a patient with Klippel-Trenaunay-Weber syndrome: case report. ( 26030331 )
2015
9
Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis. ( 26615353 )
2015
10
Klippel-Trenaunay-Weber syndrome-associated arterial and venous malformations in the lower uterine segment. ( 25222156 )
2014
11
Photoclinic. Co-existence of Abernethy malformation and Klippel-Trenaunay-Weber syndrome. ( 25065286 )
2014
12
Terminal deletion 2q37.3 in a patient with Klippel-Trenaunay-Weber syndrome. ( 23438794 )
2013
13
Sonographic identification of klippel-trenaunay-weber syndrome. ( 24368952 )
2013
14
Neurologic and vascular abnormalities in Klippel-Trenaunay-Weber syndrome. ( 23090443 )
2013
15
Coronary anomalies in Klippel-Trenaunay-Weber syndrome: multidetector computed tomography and cardiac magnetic resonance study of a rare association. ( 22898712 )
2013
16
Thoracic vertebral hemangioma causing paraplegia in Klippel-Trenaunay-Weber syndrome: case report. ( 24101274 )
2013
17
Images in vascular medicine. The mystery of a crimson leg: a case of Klippel-Trenaunay-Weber syndrome. ( 23263154 )
2013
18
Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome. ( 23161195 )
2012
19
Encephalotrigeminal Angiomatosis (Sturge-Weber Syndrome, Klippel-Trenaunay-Weber Syndrome): A Review. ( 26107478 )
2012
20
Klippel-trenaunay-weber syndrome with hemimegalencephaly; report of a pediatric case. ( 23056878 )
2012
21
Recurrent cerebral infarction in Klippel-Trenaunay-Weber syndrome. ( 22342818 )
2012
22
Klippel - trenaunay - weber syndrome. ( 24027717 )
2012
23
Neurological picture: A case of cerebral and retinal vascular anomaly in a patient with Klippel-Trenaunay-Weber syndrome. ( 21746741 )
2011
24
Sclerotherapy of rectal hemangiomas in a child with Klippel-Trenaunay-Weber syndrome. ( 21057326 )
2011
25
Lengthening of the normal tibia in a patient with hemihypertrophy caused by Klippel- Trenaunay-Weber syndrome: a case report. ( 22184171 )
2011
26
Persistent fetal vasculature and spontaneous hyphema in a patient with Klippel-Trenaunay-Weber syndrome. ( 20736130 )
2010
27
Control of disseminated intravascular coagulation in Klippel-Trenaunay-Weber syndrome using enoxaparin and recombinant activated factor VIIa: a case report. ( 20302608 )
2010
28
A girl of Klippel-Trenaunay Weber syndrome coexistence of recurrent bloody vaginal discharge. ( 19768566 )
2010
29
Open-bite orthodontic-surgical treatment in the Klippel-Trenaunay-Weber syndrome: a case report. ( 20451830 )
2010
30
Electroconvulsive therapy in a patient with Klippel-Trenaunay-Weber syndrome complicated by partial popliteal vein thrombosis. ( 21099378 )
2010
31
Multiple cerebral and spinal cord cavernomas in Klippel-Trenaunay-Weber syndrome. ( 20493710 )
2010
32
Klippel-Trenaunay-Weber syndrome: orodental manifestations and management considerations. ( 19464652 )
2009
33
Management of a femoral diaphyseal fracture in a patient with Klippel-Trenaunay-Weber syndrome: a case report. ( 19918405 )
2009
34
Klippel-Trenaunay-Weber syndrome with partial motor seizures and hemimegalencephaly. ( 21063293 )
2008
35
Conus medullaris spinal arteriovenous malformation in a patient with klippel-trenaunay-weber syndrome. A case report and review of the literature. ( 20557760 )
2008
36
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
37
Overlapping of Sturge Weber syndrome and Klippel Trenaunay Weber syndrome. ( 18285739 )
2008
38
Management of urethral hemangiomas associated with Klippel-Trenaunay-Weber syndrome by endoscopic sclerotherapy. ( 17645615 )
2007
39
Re: Urogenital involvement in the Klippel-Trenaunay-Weber Syndrome. Treatment options and results. ( 17488549 )
2007
40
Spinal arteriovenous malformations associated with Klippel-Trenaunay-Weber syndrome: a literature search and report of two cases. ( 17353342 )
2007
41
Pulmonary embolism in a patient with Klippel-Trenaunay-Weber syndrome. ( 17001548 )
2006
42
Klippel-Trenaunay-Weber syndrome and intramedullary cervical cavernoma: a very rare association. Case report. ( 16876633 )
2006
43
Deviated nasal septum in case of Klippel-Trenaunay-Weber Syndrome. ( 23120322 )
2006
44
Urogenital involvement in the Klippel-Trenaunay-Weber syndrome. Treatment options and results. ( 17201948 )
2006
45
Klippel-Trenaunay-Weber syndrome involving fetal thigh: prenatal presentations and outcomes. ( 16832837 )
2006
46
SIR 2005 Annual Meeting Film Panel case: Klippel-Trenaunay-Weber syndrome. ( 16151056 )
2005
47
Sciatic nerve enlargement in the Klippel-Trenaunay-Weber syndrome. ( 15897045 )
2005
48
Images in cardiovascular medicine. Klippel-Trenaunay-Weber syndrome. ( 15668346 )
2005
49
An infantile case of Sturge-Weber syndrome in association with Klippel-Trenaunay-Weber syndrome and phakomatosis pigmentovascularis. ( 16361829 )
2005
50
Prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome: a case report. ( 15916215 )
2005

Variations for Klippel-Trenaunay-Weber Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 AGGF1 p.Glu133Lys VAR_017901 rs34203073

Expression for Klippel-Trenaunay-Weber Syndrome

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

Pathways for Klippel-Trenaunay-Weber Syndrome

Pathways related to Klippel-Trenaunay-Weber Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.32 KRIT1 RASA1

GO Terms for Klippel-Trenaunay-Weber Syndrome

Biological processes related to Klippel-Trenaunay-Weber Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.65 AGGF1 FLT4 KRIT1 PDCD10 SOX18
2 heart development GO:0007507 9.61 CCM2 FOXC2 SOX18
3 vasculature development GO:0001944 9.5 CCM2 FLT4 SOX18
4 blood vessel development GO:0001568 9.48 FOXC2 SOX18
5 positive regulation of endothelial cell migration GO:0010595 9.46 FLT4 FOXC2
6 blood vessel morphogenesis GO:0048514 9.4 FLT4 RASA1
7 embryonic heart tube development GO:0035050 9.37 FOXC2 SOX18
8 lymph vessel development GO:0001945 9.33 FLT4 FOXC2 SOX18
9 lymphangiogenesis GO:0001946 9.13 FLT4 FOXC2 SOX18
10 vasculogenesis GO:0001570 9.02 AGGF1 CCM2 GLMN RASA1 SOX18

Sources for Klippel-Trenaunay-Weber Syndrome

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