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MCID: KLP010
MIFTS: 60

Klippel-Trenaunay-Weber Syndrome

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Klippel-Trenaunay-Weber Syndrome

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MalaCards integrated aliases for Klippel-Trenaunay-Weber Syndrome:

Name: Klippel-Trenaunay-Weber Syndrome 57 12 53 37 13 44 53
Klippel-Trenaunay Syndrome 57 12 53 25 54 75 55 15
Kts 57 53 25 75
Angio-Osteohypertrophy Syndrome 53 25
Angioosteohypertrophy Syndrome 57 12
Klippel Trenaunay Syndrome 53 29
Ktw Syndrome 57 53
Congenital Dysplastic Angiopathy 25
Klippel-Trenaunay Syndrome; Kts 57
Haemangiectatic Hypertrophy 12
Klippel-Trénaunay Syndrome 59
Klippel-Trenaunay Disease 25
Weber-Klippel-Trenaunay 53
Weber Klippel Trenaunay 73

Characteristics:

Orphanet epidemiological data:

59
klippel-trénaunay syndrome
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (United States),<1/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases


HPO:

32
klippel-trenaunay-weber syndrome:
Inheritance sporadic


Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Cardiovascular diseases Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Klippel-Trenaunay-Weber Syndrome

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NINDS : 54 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 hemangioma. 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 tall stature and abnormality of the menstrual cycle

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 : 53 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.

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Klippel–Trénaunay syndrome (KTS or KT), formerly Klippel–Trénaunay–Weber syndrome and sometimes... more...

Description from OMIM: 149000
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Related Diseases for Klippel-Trenaunay-Weber Syndrome

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

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 weber syndrome 31.2 KTWS RASA1 SST
2 hemangioma 29.7 CCM2 FLT4 KRIT1
3 cavernous malformation 29.7 CCM2 KRIT1 PDCD10
4 inverse klippel-trénaunay syndrome 12.3
5 angioosteohypertrophic syndrome 11.5
6 hemihyperplasia, isolated 11.4
7 megalencephaly-capillary malformation-polymicrogyria syndrome 11.3
8 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.3
9 frasier syndrome 11.3
10 kohlschutter-tonz syndrome 11.1
11 skin creases, congenital symmetric circumferential, 1 10.9
12 hemimegalencephaly 10.5
13 sturge-weber syndrome 10.5
14 cerebritis 10.4
15 lymphangioma 10.3
16 pulmonary embolism 10.3
17 hydronephrosis 10.3
18 arteriovenous malformation 10.3
19 nephrotic syndrome 10.3
20 phacomatosis pigmentovascularis 10.3
21 angiomatosis 10.3
22 glomuvenous malformations 10.1 GLMN KRIT1
23 glioma susceptibility 1 10.1
24 hemangioma-thrombocytopenia syndrome 10.1
25 proteus syndrome 10.1
26 vesicoureteral reflux 1 10.1
27 cryptorchidism, unilateral or bilateral 10.1
28 persistent hyperplastic primary vitreous, autosomal recessive 10.1
29 aging 10.1
30 stroke, ischemic 10.1
31 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.1
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
33 pulmonary hypertension 10.1
34 arteriovenous fistula 10.1
35 sacrococcygeal teratoma 10.1
36 osteoblastoma 10.1
37 scoliosis 10.1
38 thrombosis 10.1
39 disseminated intravascular coagulation 10.1
40 urethritis 10.1
41 vaginitis 10.1
42 cervicitis 10.1
43 cystadenoma 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 kidney disease 10.1

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



Diseases related to Klippel-Trenaunay-Weber Syndrome
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Symptoms & Phenotypes for Klippel-Trenaunay-Weber Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
lymphedema
lymphangioma
arteriovenous fistula
large cutaneous hemangiomata, capillary and cavernous

Skeletal Limbs:
oligodactyly
macrodactyly
syndactyly
polydactyly
asymmetric limb hypertrophy

Skin Nails Hair Skin:
hyperpigmented nevi and streak

Head And Neck Eyes:
glaucoma

Neurologic Central Nervous System:
mental retardation
seizure

Hematology:
kasabach-merritt syndrome


Clinical features from OMIM:

149000

Human phenotypes related to Klippel-Trenaunay-Weber Syndrome:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature 59 32 frequent (33%) Frequent (79-30%) HP:0000098
2 abnormality of the menstrual cycle 59 32 occasional (7.5%) Occasional (29-5%) HP:0000140
3 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
4 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
5 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
6 hemangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001028
7 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
8 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
9 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
10 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
11 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
12 hydrops fetalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001789
13 microcytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001935
14 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
15 pulmonary embolism 59 32 frequent (33%) Frequent (79-30%) HP:0002204
16 gastrointestinal hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0002239
17 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
18 prolonged bleeding time 59 32 occasional (7.5%) Occasional (29-5%) HP:0003010
19 abnormality of the pulmonary artery 59 32 occasional (7.5%) Occasional (29-5%) HP:0004414
20 venous thrombosis 59 32 frequent (33%) Frequent (79-30%) HP:0004936
21 venous insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0005293
22 lower limb asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0100559
23 upper limb asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0100560
24 cellulitis 59 32 frequent (33%) Frequent (79-30%) HP:0100658
25 hypercoagulability 59 32 occasional (7.5%) Occasional (29-5%) HP:0100724
26 peripheral arteriovenous fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0100784
27 abnormality of the skull 59 Occasional (29-5%)
28 edema 59 Occasional (29-5%)
29 abnormality of the tricuspid valve 59 Occasional (29-5%)
30 internal hemorrhage 59 Occasional (29-5%)
31 abnormality of skeletal morphology 59 Very frequent (99-80%)
32 glaucoma 32 HP:0000501
33 lymphedema 32 HP:0001004
34 syndactyly 32 HP:0001159
35 hand polydactyly 32 HP:0001161
36 hand oligodactyly 32 HP:0001180
37 seizures 32 HP:0001250
38 hemihypertrophy 32 HP:0001528
39 abnormality of blood and blood-forming tissues 32 HP:0001871
40 macrodactyly 32 HP:0004099
41 arteriovenous fistula 32 HP:0004947
42 hyperpigmented nevi and streak 32 HP:0005606
43 lymphangioma 32 HP:0100764
44 abnormal tricuspid valve morphology 32 occasional (7.5%) HP:0001702

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

46
# 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 KRIT1 PDCD10 RASA1 AGGF1 CCM2 FLT4
4 mortality/aging MP:0010768 9.96 AGGF1 CCM2 FLT4 FOXC2 GLMN KRIT1
5 immune system MP:0005387 9.87 FLT4 FOXC2 PDCD10 RASA1 SOX18 SST
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
Sources

Drugs & Therapeutics for Klippel-Trenaunay-Weber Syndrome

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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 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 Endothelial Growth Factors
31 Mitogens
32 GTPase-Activating Proteins Not Applicable

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 Not Applicable
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

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Genetic Tests for Klippel-Trenaunay-Weber Syndrome

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Genetic tests related to Klippel-Trenaunay-Weber Syndrome:

# Genetic test Affiliating Genes
1 Klippel Trenaunay Syndrome 29
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Anatomical Context for Klippel-Trenaunay-Weber Syndrome

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

41
Bone, Skin, Heart, Brain, Spleen, Kidney, Lung
Sources

Publications for Klippel-Trenaunay-Weber Syndrome

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Articles related to Klippel-Trenaunay-Weber Syndrome:

(show top 50) (show all 419)
# Title Authors Year
1
Klippel-Trenaunay-Weber syndrome as a cause of chronic thromboembolic pulmonary hypertension. ( 29572375 )
2018
2
Spinal Cavernous Angioma Associated with Klippel-Trenaunay-Weber Syndrome: Case Report and Literature Review. ( 29054771 )
2018
3
Lymphangioma Circumscriptum in Vulva with Klippel-Trenaunay Syndrome. ( 29451158 )
2018
4
A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma. ( 28724825 )
2017
5
Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect. ( 28782176 )
2017
6
Posterior cerebral artery giant aneurysm associated with bilateral internal carotid artery occlusion in a Klippel-Trenaunay syndrome patient: a case report. ( 29069941 )
2017
7
A case of an inverse Klippel-Trenaunay Syndrome. ( 29050451 )
2017
8
Klippel-Trenaunay-Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report. ( 28823249 )
2017
9
Complicated Total Knee Arthroplasty in a Patient with Klippel-Trenaunay-Weber Syndrome: A Case Report. ( 29244707 )
2017
10
A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics. ( 27141435 )
2016
11
Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). ( 26268729 )
2016
12
Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero. ( 26578498 )
2015
13
Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis. ( 26615353 )
2015
14
Glioblastoma multiforme in Klippel-Trenaunay-Weber syndrome: a case report. ( 25890301 )
2015
15
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
16
Colorectal cavernous hemangioma in Klippel-Trenaunay syndrome: a rare cause of abdominal pain and hematochezia. ( 25759876 )
2015
17
THE SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH KLIPPEL-TRENAUNAY-WEBER SYNDROME. ( 26349197 )
2015
18
Foot ulcers in klippel-trenaunay syndrome: two case reports and one metatypical Basal cell carcinoma. ( 26016963 )
2015
19
A rare paediatric case of Klippel-Trenaunay-Weber syndrome. ( 25878760 )
2015
20
Fractional carbon dioxide laser ablation for the treatment of microcystic lymphatic malformations (lymphangioma circumscriptum) in an adult patient with Klippel-Trenaunay syndrome. ( 26073570 )
2015
21
Phakomatosis pigmentovascularis presenting with sturge-weber syndrome and klippel-trenaunay syndrome. ( 25657402 )
2015
22
An unusual presentation of pediatric osteoblastoma in a patient with Klippel-Trenaunay-Weber syndrome: case report. ( 26030331 )
2015
23
Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions? ( 26451379 )
2015
24
Combined Transarterial and Transvenous Approach for Curative Obliteration of Klippel-Trenaunay-Weber Syndrome-Associated Spinal Perimedullary Arteriovenous Fistulas. ( 25008156 )
2015
25
A case of newly diagnosed klippel trenaunay weber syndrome presenting with nephrotic syndrome. ( 26000182 )
2015
26
Surgical treatment of varicose veins and venous malformations in Klippel-Trenaunay syndrome. ( 25788406 )
2015
27
Misdiagnosis of Klippel-Trenaunay syndrome. ( 24583451 )
2014
28
Klippel-Trenaunay-Weber syndrome-associated arterial and venous malformations in the lower uterine segment. ( 25222156 )
2014
29
[Klippel-Trenaunay syndrome and pregnancy: difficult choice of delivery from a case and a review of the literature]. ( 24461340 )
2014
30
A case of femoral fracture in klippel trenaunay syndrome. ( 25478269 )
2014
31
A rare presentation of Klippel-Trenaunay syndrome. ( 24860749 )
2014
32
Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth. ( 24478251 )
2014
33
Preoperative splenic artery embolization in klippel-Trenaunay syndrome with massive splenomegaly: A case report. ( 24761383 )
2014
34
Vascularized lymph node flap transfer and lymphovenous anastomosis for klippel-trenaunay syndrome with congenital lymphedema. ( 25289360 )
2014
35
Unilateral cataract and vitreoretinopathy in a case with klippel-trenaunay syndrome. ( 25031878 )
2014
36
Klippel-Trenaunay syndrome presenting with acanthocytosis and splenic and retroperitoneal lymphangioma: a case report. ( 25427442 )
2014
37
Sturge-Weber syndrome in association with Klippel-Trenaunay syndrome and phakomatosis pigmentovascularis type IIb. ( 24448125 )
2014
38
Klippel-Trenaunay syndrome and gestational trophoblastic neoplasm. ( 25228614 )
2014
39
Massive splenomegaly caused by cavernous hemangiomas associated with Klippel-Trenaunay syndrome: report of a case. ( 24254059 )
2014
40
Klippel Trenaunay syndrome and the anaesthesiologist. ( 25624555 )
2014
41
Klippel-Trenaunay syndrome and cavernous malformations. ( 25293688 )
2014
42
Reply to the letter: Misdiagnosis of Klippel-Trenaunay syndrome. ( 24583452 )
2014
43
Photoclinic. Co-existence of Abernethy malformation and Klippel-Trenaunay-Weber syndrome. ( 25065286 )
2014
44
Endovenous radiofrequency thermal ablation and ultrasound-guided foam sclerotherapy in treatment of klippel-trenaunay syndrome. ( 24719663 )
2014
45
Bilateral vulvar mass mimicking Bartholin's gland abscess in the postpartum period: Klippel-Trenaunay Syndrome. ( 24766189 )
2014
46
Klippel Trenaunay syndrome in association with Sturge Weber syndrome about one case. ( 24938246 )
2014
47
Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome? ( 25593797 )
2014
48
Portomesenteric thrombosis and hypertension in Klippel-Trenaunay syndrome. ( 25298956 )
2014
49
Klippel-Trenaunay syndrome with rudimentary polydactyly. ( 24527700 )
2014
50
Ethanol sclerotherapy of rectal venous abnormalities in Klippel-Trenaunay syndrome. ( 25141856 )
2014
Sources

Variations for Klippel-Trenaunay-Weber Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 AGGF1 p.Glu133Lys VAR_017901 rs34203073

Sources

Expression for Klippel-Trenaunay-Weber Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
G-protein signaling_Rap1A regulation pathway 22
10.32 KRIT1 RASA1
Sources

GO Terms for Klippel-Trenaunay-Weber Syndrome

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

(show all 12)
# 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 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.51 FLT4 FOXC2
4 vasculature development GO:0001944 9.5 CCM2 FLT4 SOX18
5 positive regulation of endothelial cell proliferation GO:0001938 9.49 AGGF1 FLT4
6 blood vessel development GO:0001568 9.48 FOXC2 SOX18
7 positive regulation of endothelial cell migration GO:0010595 9.46 FLT4 FOXC2
8 blood vessel morphogenesis GO:0048514 9.4 FLT4 RASA1
9 embryonic heart tube development GO:0035050 9.37 FOXC2 SOX18
10 lymph vessel development GO:0001945 9.33 FLT4 FOXC2 SOX18
11 lymphangiogenesis GO:0001946 9.13 FLT4 FOXC2 SOX18
12 vasculogenesis GO:0001570 9.1 AGGF1 CCM2 FLT4 GLMN RASA1 SOX18
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Sources for Klippel-Trenaunay-Weber Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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