MCID: KLP010
MIFTS: 60

Klippel-Trenaunay-Weber Syndrome

Categories: Rare diseases, Bone diseases, Genetic diseases, Cardiovascular 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 53 12 49 36 13 41 49
Klippel-Trenaunay Syndrome 53 12 49 24 50 71 51 14
Kts 53 49 24 71
Angio-Osteohypertrophy Syndrome 49 24
Angioosteohypertrophy Syndrome 53 12
Klippel Trenaunay Syndrome 49 28
Ktw Syndrome 53 49
Congenital Dysplastic Angiopathy 24
Klippel-Trenaunay Syndrome; Kts 53
Haemangiectatic Hypertrophy 12
Klippel-Trénaunay Syndrome 55
Klippel-Trenaunay Disease 24
Weber-Klippel-Trenaunay 49
Weber Klippel Trenaunay 69

Characteristics:

Orphanet epidemiological data:

55
klippel-trénaunay syndrome
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (United States),<1/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
isolated cases


HPO:

31
klippel-trenaunay-weber syndrome:
Inheritance sporadic


Classifications:



Summaries for Klippel-Trenaunay-Weber Syndrome

NINDS : 50 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 weber syndrome and cavernous malformation, 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 : 24 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 : 49 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.

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 90)
# Related Disease Score Top Affiliating Genes
1 weber syndrome 31.3 KTWS RASA1 SST
2 cavernous malformation 29.9 CCM2 KRIT1 PDCD10
3 inverse klippel-trénaunay syndrome 12.3
4 hemihyperplasia, isolated 11.8
5 angioosteohypertrophic syndrome 11.5
6 megalencephaly-capillary malformation-polymicrogyria syndrome 11.3
7 frasier syndrome 11.3
8 skin creases, congenital symmetric circumferential, 1 10.9
9 kohlschutter-tonz syndrome 10.9
10 hemimegalencephaly 10.5
11 sturge-weber syndrome 10.5
12 hemangioma 10.5
13 cerebritis 10.4
14 lymphangioma 10.3
15 pulmonary embolism 10.3
16 hydronephrosis 10.3
17 arteriovenous malformation 10.3
18 nephrotic syndrome 10.3
19 angiomatosis 10.3
20 hereditary wilms' tumor 10.3
21 glomuvenous malformations 10.1 GLMN KRIT1
22 glioma susceptibility 1 10.1
23 hemangioma-thrombocytopenia syndrome 10.1
24 lipomatosis, multiple 10.1
25 proteus syndrome 10.1
26 vesicoureteral reflux 1 10.1
27 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
28 cryptorchidism, unilateral or bilateral 10.1
29 persistent hyperplastic primary vitreous, autosomal recessive 10.1
30 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.1
31 aging 10.1
32 stroke, ischemic 10.1
33 bacteremia 2 10.1
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
35 arteriovenous fistula 10.1
36 sacrococcygeal teratoma 10.1
37 osteoblastoma 10.1
38 scoliosis 10.1
39 thrombosis 10.1
40 disseminated intravascular coagulation 10.1
41 urethritis 10.1
42 vaginitis 10.1
43 cervicitis 10.1
44 glioblastoma multiforme 10.1
45 teratoma 10.1
46 retinitis 10.1
47 vaginal discharge 10.1
48 pyoderma 10.1
49 melorheostosis 10.1
50 paraplegia 10.1

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:

53
CardiovascularVascular:
lymphedema
lymphangioma
arteriovenous fistula
large cutaneous hemangiomata, capillary and cavernous

SkeletalLimbs:
oligodactyly
macrodactyly
syndactyly
polydactyly
asymmetric limb hypertrophy

SkinNailsHairSkin:
hyperpigmented nevi and streak

HeadAndNeckEyes:
glaucoma

NeurologicCentralNervousSystem:
mental retardation
seizure

Hematology:
kasabach-merritt syndrome


Clinical features from OMIM:

149000

Human phenotypes related to Klippel-Trenaunay-Weber Syndrome:

55 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000256
2 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
3 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
4 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
5 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
6 ascites 55 31 occasional (7.5%) Occasional (29-5%) HP:0001541
7 hypercoagulability 55 31 occasional (7.5%) Occasional (29-5%) HP:0100724
8 pulmonary embolism 55 31 frequent (33%) Frequent (79-30%) HP:0002204
9 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
10 congestive heart failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001635
11 hydrops fetalis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001789
12 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
13 microcytic anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001935
14 venous thrombosis 55 31 frequent (33%) Frequent (79-30%) HP:0004936
15 hematuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000790
16 gastrointestinal hemorrhage 55 31 frequent (33%) Frequent (79-30%) HP:0002239
17 cellulitis 55 31 frequent (33%) Frequent (79-30%) HP:0100658
18 abnormality of the menstrual cycle 55 31 occasional (7.5%) Occasional (29-5%) HP:0000140
19 prolonged bleeding time 55 31 occasional (7.5%) Occasional (29-5%) HP:0003010
20 venous insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0005293
21 abnormality of the pulmonary artery 55 31 occasional (7.5%) Occasional (29-5%) HP:0004414
22 lower limb asymmetry 55 31 hallmark (90%) Very frequent (99-80%) HP:0100559
23 peripheral arteriovenous fistula 55 31 occasional (7.5%) Occasional (29-5%) HP:0100784
24 tall stature 55 31 frequent (33%) Frequent (79-30%) HP:0000098
25 upper limb asymmetry 55 31 hallmark (90%) Very frequent (99-80%) HP:0100560
26 hemangioma 55 31 hallmark (90%) Very frequent (99-80%) HP:0001028
27 edema 55 Occasional (29-5%)
28 seizures 31 HP:0001250
29 lymphedema 31 HP:0001004
30 abnormality of the skull 55 Occasional (29-5%)
31 glaucoma 31 HP:0000501
32 hand polydactyly 31 HP:0001161
33 internal hemorrhage 55 Occasional (29-5%)
34 abnormality of blood and blood-forming tissues 31 HP:0001871
35 abnormality of the tricuspid valve 55 Occasional (29-5%)
36 hemihypertrophy 31 HP:0001528
37 lymphangioma 31 HP:0100764
38 macrodactyly 31 HP:0004099
39 syndactyly 31 HP:0001159
40 abnormality of skeletal morphology 55 Very frequent (99-80%)
41 arteriovenous fistula 31 HP:0004947
42 hyperpigmented nevi and streak 31 HP:0005606
43 hand oligodactyly 31 HP:0001180
44 abnormal tricuspid valve morphology 31 occasional (7.5%) HP:0001702

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

43
# 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 AGGF1 CCM2 FLT4 FOXC2 GLMN KRIT1
4 mortality/aging MP:0010768 9.96 FOXC2 GLMN KRIT1 PDCD10 RASA1 SOX18
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 RASA1 SST AGGF1 CCM2 FOXC2 GLMN
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 32)
# 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 46835353 6436030 5284616
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 5478 33624
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 Endothelial Growth Factors
31 Mitogens
32 GTPase-Activating Proteins

Interventional clinical trials:

(show all 18)

# 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 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Unknown status NCT01761981
10 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
11 Biomarker Development in Sturge-Weber Syndrome Completed NCT01345305
12 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
13 Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Recruiting NCT01425944
14 Immunmodulation in Patients With HHT Recruiting NCT02983253
15 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
16 Lymphatic Anomalies Registry Recruiting NCT02399527
17 French National Cohort of Children With Port Wine Stain Active, not recruiting NCT01364857
18 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:

# Genetic test Affiliating Genes
1 Klippel Trenaunay Syndrome 28

Anatomical Context for Klippel-Trenaunay-Weber Syndrome

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

38
Bone, Skin, Heart, Spleen, Lung, Brain, Liver

Publications for Klippel-Trenaunay-Weber Syndrome

Articles related to Klippel-Trenaunay-Weber Syndrome:

(show top 50) (show all 400)
# Title Authors Year
1
Lymphangioma Circumscriptum in Vulva with Klippel-Trenaunay Syndrome. ( 29451158 )
2018
2
Spinal Cavernous Angioma Associated with Klippel-Trenaunay-Weber Syndrome: Case Report and Literature Review. ( 29054771 )
2018
3
Posterior cerebral artery giant aneurysm associated with bilateral internal carotid artery occlusion in a Klippel-Trenaunay syndrome patient: a case report. ( 29069941 )
2017
4
Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect. ( 28782176 )
2017
5
A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma. ( 28724825 )
2017
6
Klippel-Trenaunay-Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report. ( 28823249 )
2017
7
A case of an inverse Klippel-Trenaunay Syndrome. ( 29050451 )
2017
8
Complicated Total Knee Arthroplasty in a Patient with Klippel-Trenaunay-Weber Syndrome: A Case Report. ( 29244707 )
2017
9
A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics. ( 27141435 )
2016
10
Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). ( 26268729 )
2016
11
Combined Transarterial and Transvenous Approach for Curative Obliteration of Klippel-Trenaunay-Weber Syndrome-Associated Spinal Perimedullary Arteriovenous Fistulas. ( 25008156 )
2015
12
A rare paediatric case of Klippel-Trenaunay-Weber syndrome. ( 25878760 )
2015
13
Glioblastoma multiforme in Klippel-Trenaunay-Weber syndrome: a case report. ( 25890301 )
2015
14
Colorectal cavernous hemangioma in Klippel-Trenaunay syndrome: a rare cause of abdominal pain and hematochezia. ( 25759876 )
2015
15
Foot ulcers in klippel-trenaunay syndrome: two case reports and one metatypical Basal cell carcinoma. ( 26016963 )
2015
16
Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations. ( 26437284 )
2015
17
An unusual presentation of pediatric osteoblastoma in a patient with Klippel-Trenaunay-Weber syndrome: case report. ( 26030331 )
2015
18
A case of newly diagnosed klippel trenaunay weber syndrome presenting with nephrotic syndrome. ( 26000182 )
2015
19
Phakomatosis pigmentovascularis presenting with sturge-weber syndrome and klippel-trenaunay syndrome. ( 25657402 )
2015
20
THE SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH KLIPPEL-TRENAUNAY-WEBER SYNDROME. ( 26349197 )
2015
21
Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero. ( 26578498 )
2015
22
Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis. ( 26615353 )
2015
23
Surgical treatment of varicose veins and venous malformations in Klippel-Trenaunay syndrome. ( 25788406 )
2015
24
Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions? ( 26451379 )
2015
25
Vascularized lymph node flap transfer and lymphovenous anastomosis for klippel-trenaunay syndrome with congenital lymphedema. ( 25289360 )
2014
26
Endovenous radiofrequency thermal ablation and ultrasound-guided foam sclerotherapy in treatment of klippel-trenaunay syndrome. ( 24719663 )
2014
27
Sturge-Weber syndrome in association with Klippel-Trenaunay syndrome and phakomatosis pigmentovascularis type IIb. ( 24448125 )
2014
28
Klippel-Trenaunay-Weber syndrome-associated arterial and venous malformations in the lower uterine segment. ( 25222156 )
2014
29
Massive splenomegaly caused by cavernous hemangiomas associated with Klippel-Trenaunay syndrome: report of a case. ( 24254059 )
2014
30
Preoperative splenic artery embolization in klippel-Trenaunay syndrome with massive splenomegaly: A case report. ( 24761383 )
2014
31
Klippel-Trenaunay syndrome and gestational trophoblastic neoplasm. ( 25228614 )
2014
32
Klippel-Trenaunay syndrome presenting with acanthocytosis and splenic and retroperitoneal lymphangioma: a case report. ( 25427442 )
2014
33
Klippel Trenaunay syndrome and the anaesthesiologist. ( 25624555 )
2014
34
A case of femoral fracture in klippel trenaunay syndrome. ( 25478269 )
2014
35
Ethanol sclerotherapy of rectal venous abnormalities in Klippel-Trenaunay syndrome. ( 25141856 )
2014
36
Portomesenteric thrombosis and hypertension in Klippel-Trenaunay syndrome. ( 25298956 )
2014
37
Photoclinic. Co-existence of Abernethy malformation and Klippel-Trenaunay-Weber syndrome. ( 25065286 )
2014
38
Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome? ( 25593797 )
2014
39
A rare presentation of Klippel-Trenaunay syndrome. ( 24860749 )
2014
40
Klippel-Trenaunay syndrome with rudimentary polydactyly. ( 24527700 )
2014
41
Unilateral cataract and vitreoretinopathy in a case with klippel-trenaunay syndrome. ( 25031878 )
2014
42
Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth. ( 24478251 )
2014
43
Bilateral vulvar mass mimicking Bartholin's gland abscess in the postpartum period: Klippel-Trenaunay Syndrome. ( 24766189 )
2014
44
Klippel-Trenaunay syndrome and cavernous malformations. ( 25293688 )
2014
45
Reply to the letter: Misdiagnosis of Klippel-Trenaunay syndrome. ( 24583452 )
2014
46
Klippel Trenaunay syndrome in association with Sturge Weber syndrome about one case. ( 24938246 )
2014
47
Misdiagnosis of Klippel-Trenaunay syndrome. ( 24583451 )
2014
48
Klippel-Trenaunay syndrome. ( 24564049 )
2013
49
Endovenous radiofrequency ablation and combined foam sclerotherapy treatment of multiple refluxing perforator veins in a Klippel-Trenaunay syndrome patient. ( 23868201 )
2013
50
Sonographic identification of klippel-trenaunay-weber syndrome. ( 24368952 )
2013

Variations for Klippel-Trenaunay-Weber Syndrome

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

71
# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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