MCID: KLP010
MIFTS: 55

Klippel-Trenaunay-Weber Syndrome

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

Aliases & Classifications for Klippel-Trenaunay-Weber Syndrome

MalaCards integrated aliases for Klippel-Trenaunay-Weber Syndrome:

Name: Klippel-Trenaunay-Weber Syndrome 54 12 50 24 13 42 50
Klippel-Trenaunay Syndrome 12 50 25 51 71 52 14
Kts 50 24 25 71
Angio-Osteohypertrophy Syndrome 50 25
Klippel Trenaunay Syndrome 50 29
Ktw Syndrome 50 24
Congenital Dysplastic Angiopathy 25
Angioosteohypertrophy Syndrome 12
Haemangiectatic Hypertrophy 12
Klippel-Trénaunay Syndrome 56
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;

OMIM:

54
Inheritance:
isolated cases


HPO:

32
klippel-trenaunay-weber syndrome:
Inheritance sporadic


Classifications:



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 hepatomegaly, microcephaly and hematuria. 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

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 only affects 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: 5/23/2017

UniProtKB/Swiss-Prot : 71 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.

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.

Disease Ontology : 12 A syndrome that is characterized by 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 80)
id Related Disease Score Top Affiliating Genes
1 inverse klippel-trénaunay syndrome 12.1
2 hemihyperplasia, isolated 11.3
3 angioosteohypertrophic syndrome 11.3
4 clove syndrome, somatic 11.2
5 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 11.2
6 frasier syndrome 11.1
7 weber syndrome 11.0
8 symmetric circumferential skin creases, congenital, 1 10.8
9 kohlschutter-tonz syndrome 10.8
10 hemimegalencephaly 10.4
11 hemangioma 10.4
12 cerebritis 10.3
13 pulmonary embolism 10.3
14 lymphangioma 10.3
15 hemihypertrophy 10.2
16 hydronephrosis 10.2
17 arteriovenous malformation 10.2
18 nephrotic syndrome 10.2
19 angiomatosis 10.2
20 glomuvenous malformations 10.2 GLMN KRIT1
21 vascular hemostatic disease 10.1 FLT4 GLMN
22 duodenitis 10.0
23 vaginitis 10.0
24 arteriovenous fistula 10.0
25 cervicitis 10.0
26 vesicoureteral reflux 10.0
27 glioblastoma multiforme 10.0
28 congenital nystagmus 10.0
29 teratoma 10.0
30 sacrococcygeal teratoma 10.0
31 cavernous lymphangioma 10.0
32 osteoblastoma 10.0
33 retinitis 10.0
34 glioblastoma 10.0
35 scoliosis 10.0
36 vaginal discharge 10.0
37 thrombosis 10.0
38 bacteremia 10.0
39 pyoderma 10.0
40 disseminated intravascular coagulation 10.0
41 melorheostosis 10.0
42 paraplegia 10.0
43 aneurysm 10.0
44 hypersplenism 10.0
45 urethritis 10.0
46 cavernous malformation 10.0
47 intestinal obstruction 10.0
48 pyoderma gangrenosum 10.0
49 adie pupil 10.0 FOXC2 SOX18 SST
50 congenital mitral stenosis 9.9 FLT4 FOXC2

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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
mental retardation
seizure

Skeletal- Limbs:
syndactyly
oligodactyly
polydactyly
macrodactyly
asymmetric limb hypertrophy

Skin Nails & Hair- Skin:
hyperpigmented nevi and streak

Head And Neck- Eyes:
glaucoma

Cardiovascular- Vascular:
lymphedema
large cutaneous hemangiomata, capillary and cavernous
arteriovenous fistula
lymphangioma

Hematology:
kasabach-merritt syndrome


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 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
2 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
3 hematuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000790
4 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
5 macrocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000256
6 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
7 hemangioma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001028
8 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
9 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
10 venous thrombosis 56 32 frequent (33%) Frequent (79-30%) HP:0004936
11 pulmonary embolism 56 32 frequent (33%) Frequent (79-30%) HP:0002204
12 tall stature 56 32 frequent (33%) Frequent (79-30%) HP:0000098
13 cellulitis 56 32 frequent (33%) Frequent (79-30%) HP:0100658
14 hydrops fetalis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001789
15 ascites 56 32 occasional (7.5%) Occasional (29-5%) HP:0001541
16 prolonged bleeding time 56 32 occasional (7.5%) Occasional (29-5%) HP:0003010
17 microcytic anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001935
18 gastrointestinal hemorrhage 56 32 frequent (33%) Frequent (79-30%) HP:0002239
19 lower limb asymmetry 56 32 hallmark (90%) Very frequent (99-80%) HP:0100559
20 hypercoagulability 56 32 occasional (7.5%) Occasional (29-5%) HP:0100724
21 abnormality of the menstrual cycle 56 32 occasional (7.5%) Occasional (29-5%) HP:0000140
22 venous insufficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0005293
23 abnormality of the pulmonary artery 56 32 occasional (7.5%) Occasional (29-5%) HP:0004414
24 peripheral arteriovenous fistula 56 32 occasional (7.5%) Occasional (29-5%) HP:0100784
25 abnormality of the tricuspid valve 56 32 occasional (7.5%) Occasional (29-5%) HP:0001702
26 upper limb asymmetry 56 32 hallmark (90%) Very frequent (99-80%) HP:0100560
27 seizures 32 HP:0001250
28 atrial septal defect 32 occasional (7.5%) HP:0001631
29 glaucoma 32 HP:0000501
30 syndactyly 32 HP:0001159
31 edema 56 Occasional (29-5%)
32 macrodactyly 32 HP:0004099
33 lymphedema 32 HP:0001004
34 hemihypertrophy 32 HP:0001528
35 arteriovenous fistula 32 HP:0004947
36 lymphangioma 32 HP:0100764
37 hyperpigmented nevi and streak 32 HP:0005606
38 atria septal defect 56 Occasional (29-5%)
39 abnormality of the skull 56 Occasional (29-5%)
40 hand polydactyly 32 HP:0001161
41 internal hemorrhage 56 Occasional (29-5%)
42 abnormality of blood and blood-forming tissues 32 HP:0001871
43 abnormality of skeletal morphology 56 Very frequent (99-80%)
44 hand oligodactyly 32 HP:0001180

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 AGGF1 CCM2 FLT4 FOXC2 GLMN KRIT1
2 growth/size/body region MP:0005378 10.02 CCM2 FLT4 FOXC2 GLMN KRIT1 PDCD10
3 embryo MP:0005380 10.01 GLMN KRIT1 PDCD10 RASA1 AGGF1 CCM2
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 RASA1 CCM2 FLT4 FOXC2 KRIT1 PDCD10
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 Angiogenesis Inhibitors Phase 2
15 Angiogenesis Modulating Agents Phase 2
16 Anticonvulsants Phase 1, 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 Drugs
1 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
2 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Recruiting NCT03047980 Phase 2, Phase 3 Sirolimus
3 Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome Completed NCT02080624 Phase 2 Drug: Topical Rapamycin
4 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
5 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2 Cannabidiol
6 Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS) Withdrawn NCT01997255 Phase 2 Everolimus
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 Timolol;Preservative free artificial tear gel.
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 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Recruiting NCT01761981
15 Lymphatic Anomalies Registry Recruiting NCT02399527
16 French National Cohort of Children With Port Wine Stain Active, not recruiting NCT01364857
17 Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT02690246

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, Kidney

Publications for Klippel-Trenaunay-Weber Syndrome

Articles related to Klippel-Trenaunay-Weber Syndrome:

(show top 50) (show all 100)
id Title Authors Year
1
Klippel-Trenaunay-Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report. ( 28823249 )
2017
2
Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect. ( 28782176 )
2017
3
A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics. ( 27141435 )
2016
4
Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero. ( 26578498 )
2015
5
Glioblastoma multiforme in Klippel-Trenaunay-Weber syndrome: a case report. ( 25890301 )
2015
6
THE SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH KLIPPEL-TRENAUNAY-WEBER SYNDROME. ( 26349197 )
2015
7
A rare paediatric case of Klippel-Trenaunay-Weber syndrome. ( 25878760 )
2015
8
Combined Transarterial and Transvenous Approach for Curative Obliteration of Klippel-Trenaunay-Weber Syndrome-Associated Spinal Perimedullary Arteriovenous Fistulas. ( 25008156 )
2015
9
An unusual presentation of pediatric osteoblastoma in a patient with Klippel-Trenaunay-Weber syndrome: case report. ( 26030331 )
2015
10
A case of newly diagnosed klippel trenaunay weber syndrome presenting with nephrotic syndrome. ( 26000182 )
2015
11
Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis. ( 26615353 )
2015
12
Klippel-Trenaunay-Weber syndrome-associated arterial and venous malformations in the lower uterine segment. ( 25222156 )
2014
13
Photoclinic. Co-existence of Abernethy malformation and Klippel-Trenaunay-Weber syndrome. ( 25065286 )
2014
14
Sonographic identification of klippel-trenaunay-weber syndrome. ( 24368952 )
2013
15
Terminal deletion 2q37.3 in a patient with Klippel-Trenaunay-Weber syndrome. ( 23438794 )
2013
16
Coronary anomalies in Klippel-Trenaunay-Weber syndrome: multidetector computed tomography and cardiac magnetic resonance study of a rare association. ( 22898712 )
2013
17
Images in vascular medicine. The mystery of a crimson leg: a case of Klippel-Trenaunay-Weber syndrome. ( 23263154 )
2013
18
Thoracic vertebral hemangioma causing paraplegia in Klippel-Trenaunay-Weber syndrome: case report. ( 24101274 )
2013
19
Neurologic and vascular abnormalities in Klippel-Trenaunay-Weber syndrome. ( 23090443 )
2013
20
Recurrent cerebral infarction in Klippel-Trenaunay-Weber syndrome. ( 22342818 )
2012
21
Klippel-trenaunay-weber syndrome with hemimegalencephaly; report of a pediatric case. ( 23056878 )
2012
22
Klippel - trenaunay - weber syndrome. ( 24027717 )
2012
23
Encephalotrigeminal Angiomatosis (Sturge-Weber Syndrome, Klippel-Trenaunay-Weber Syndrome): A Review. ( 26107478 )
2012
24
Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome. ( 23161195 )
2012
25
Neurological picture: A case of cerebral and retinal vascular anomaly in a patient with Klippel-Trenaunay-Weber syndrome. ( 21746741 )
2011
26
Sclerotherapy of rectal hemangiomas in a child with Klippel-Trenaunay-Weber syndrome. ( 21057326 )
2011
27
Lengthening of the normal tibia in a patient with hemihypertrophy caused by Klippel- Trenaunay-Weber syndrome: a case report. ( 22184171 )
2011
28
Open-bite orthodontic-surgical treatment in the Klippel-Trenaunay-Weber syndrome: a case report. ( 20451830 )
2010
29
Multiple cerebral and spinal cord cavernomas in Klippel-Trenaunay-Weber syndrome. ( 20493710 )
2010
30
Electroconvulsive therapy in a patient with Klippel-Trenaunay-Weber syndrome complicated by partial popliteal vein thrombosis. ( 21099378 )
2010
31
A girl of Klippel-Trenaunay Weber syndrome coexistence of recurrent bloody vaginal discharge. ( 19768566 )
2010
32
Control of disseminated intravascular coagulation in Klippel-Trenaunay-Weber syndrome using enoxaparin and recombinant activated factor VIIa: a case report. ( 20302608 )
2010
33
Persistent fetal vasculature and spontaneous hyphema in a patient with Klippel-Trenaunay-Weber syndrome. ( 20736130 )
2010
34
Management of a femoral diaphyseal fracture in a patient with Klippel-Trenaunay-Weber syndrome: a case report. ( 19918405 )
2009
35
Klippel-Trenaunay-Weber syndrome: orodental manifestations and management considerations. ( 19464652 )
2009
36
Conus medullaris spinal arteriovenous malformation in a patient with klippel-trenaunay-weber syndrome. A case report and review of the literature. ( 20557760 )
2008
37
Overlapping of Sturge Weber syndrome and Klippel Trenaunay Weber syndrome. ( 18285739 )
2008
38
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
39
Klippel-Trenaunay-Weber syndrome with partial motor seizures and hemimegalencephaly. ( 21063293 )
2008
40
Management of urethral hemangiomas associated with Klippel-Trenaunay-Weber syndrome by endoscopic sclerotherapy. ( 17645615 )
2007
41
Re: Urogenital involvement in the Klippel-Trenaunay-Weber Syndrome. Treatment options and results. ( 17488549 )
2007
42
Spinal arteriovenous malformations associated with Klippel-Trenaunay-Weber syndrome: a literature search and report of two cases. ( 17353342 )
2007
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
Pulmonary embolism in a patient with Klippel-Trenaunay-Weber syndrome. ( 17001548 )
2006
47
Klippel-Trenaunay-Weber syndrome and intramedullary cervical cavernoma: a very rare association. Case report. ( 16876633 )
2006
48
An infantile case of Sturge-Weber syndrome in association with Klippel-Trenaunay-Weber syndrome and phakomatosis pigmentovascularis. ( 16361829 )
2005
49
Sciatic nerve enlargement in the Klippel-Trenaunay-Weber syndrome. ( 15897045 )
2005
50
Images in cardiovascular medicine. Klippel-Trenaunay-Weber syndrome. ( 15668346 )
2005

Variations for Klippel-Trenaunay-Weber Syndrome

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

71
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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