KTS
MCID: KLP010
MIFTS: 61

Klippel-Trenaunay-Weber Syndrome (KTS)

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

Aliases & Classifications for Klippel-Trenaunay-Weber Syndrome

MalaCards integrated aliases for Klippel-Trenaunay-Weber Syndrome:

Name: Klippel-Trenaunay-Weber Syndrome 58 12 54 38 13 45
Klippel-Trenaunay Syndrome 58 12 54 26 55 76 56 15
Kts 58 54 26 76
Klippel-Trénaunay-Weber Syndrome 77 54
Angio-Osteohypertrophy Syndrome 54 26
Angioosteohypertrophy Syndrome 58 12
Klippel Trenaunay Syndrome 54 30
Ktw Syndrome 58 54
Congenital Dysplastic Angiopathy 26
Klippel-Trenaunay Syndrome; Kts 58
Haemangiectatic Hypertrophy 12
Klippel-Trénaunay Syndrome 60
Klippel-Trenaunay Disease 26
Weber-Klippel-Trenaunay 54
Weber Klippel Trenaunay 74

Characteristics:

Orphanet epidemiological data:

60
klippel-trénaunay syndrome
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (United States),<1/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
isolated cases


HPO:

33
klippel-trenaunay-weber syndrome:
Inheritance sporadic


Classifications:



Summaries for Klippel-Trenaunay-Weber Syndrome

NINDS : 55 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 are Ras signaling pathway and Oncogenic MAPK signaling. The drugs Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related phenotypes are venous insufficiency and lower limb asymmetry

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

Genetics Home Reference : 26 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 : 54 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 : 76 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 : 77 Klippel–Trénaunay syndrome formerly Klippel–Trénaunay–Weber syndrome and sometimes... more...

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 188)
# Related Disease Score Top Affiliating Genes
1 weber syndrome 31.9 KTWS RASA1 SST
2 hemangioma 30.5 CCM2 FLT4 KRIT1
3 lymphedema 30.1 FLT4 FOXC2 SOX18
4 congenital lymphedema 30.1 FLT4 FOXC2
5 proteus syndrome 30.1 AGGF1 RASA1
6 cavernous hemangioma 30.0 CCM2 KRIT1 PDCD10
7 human venous malformation 29.9 CCM2 GLMN KRIT1 PDCD10
8 skin creases, congenital symmetric circumferential, 1 12.0
9 hemihyperplasia, isolated 12.0
10 megalencephaly-capillary malformation-polymicrogyria syndrome 11.5
11 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.5
12 frasier syndrome 11.4
13 angioosteohypertrophic syndrome 11.4
14 kohlschutter-tonz syndrome 11.3
15 hemimegalencephaly 10.7
16 sturge-weber syndrome 10.6
17 arteriovenous malformation 10.6
18 pulmonary embolism 10.6
19 arteriovenous fistula 10.5
20 lymphangioma 10.5
21 hydronephrosis 10.4
22 nephrotic syndrome 10.4
23 paraplegia 10.4
24 phacomatosis pigmentovascularis 10.4
25 splenomegaly 10.4
26 inverse klippel-trénaunay syndrome 10.4
27 lymphatic malformations 10.3
28 carpal tunnel syndrome 10.3
29 fabry disease 10.3
30 mononeuropathy of the median nerve, mild 10.3
31 gingival fibromatosis 10.3
32 cutis laxa 10.3
33 fibromatosis 10.3
34 lymphangiectasis 10.3
35 encephalopathy 10.3
36 thrombophilia due to thrombin defect 10.3
37 glioma susceptibility 1 10.3
38 hemangioma-thrombocytopenia syndrome 10.3
39 kaposi sarcoma 10.3
40 lipomatosis, multiple 10.3
41 melorheostosis, isolated 10.3
42 varicose veins 10.3
43 vesicoureteral reflux 1 10.3
44 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
45 cryptorchidism, unilateral or bilateral 10.3
46 persistent hyperplastic primary vitreous, autosomal recessive 10.3
47 stroke, ischemic 10.3
48 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.3
49 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
50 pulmonary hypertension 10.3

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

Human phenotypes related to Klippel-Trenaunay-Weber Syndrome:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 venous insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0005293
2 lower limb asymmetry 60 33 hallmark (90%) Very frequent (99-80%) HP:0100559
3 upper limb asymmetry 60 33 hallmark (90%) Very frequent (99-80%) HP:0100560
4 hemangioma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001028
5 pulmonary embolism 60 33 frequent (33%) Frequent (79-30%) HP:0002204
6 venous thrombosis 60 33 frequent (33%) Frequent (79-30%) HP:0004936
7 gastrointestinal hemorrhage 60 33 frequent (33%) Frequent (79-30%) HP:0002239
8 cellulitis 60 33 frequent (33%) Frequent (79-30%) HP:0100658
9 tall stature 60 33 frequent (33%) Frequent (79-30%) HP:0000098
10 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
11 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
12 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
13 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
14 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
15 ascites 60 33 occasional (7.5%) Occasional (29-5%) HP:0001541
16 hypercoagulability 60 33 occasional (7.5%) Occasional (29-5%) HP:0100724
17 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
18 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
19 hydrops fetalis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001789
20 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
21 microcytic anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001935
22 hematuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0000790
23 abnormality of the menstrual cycle 60 33 occasional (7.5%) Occasional (29-5%) HP:0000140
24 prolonged bleeding time 60 33 occasional (7.5%) Occasional (29-5%) HP:0003010
25 abnormality of the pulmonary artery 60 33 occasional (7.5%) Occasional (29-5%) HP:0004414
26 peripheral arteriovenous fistula 60 33 occasional (7.5%) Occasional (29-5%) HP:0100784
27 abnormal tricuspid valve morphology 33 occasional (7.5%) HP:0001702
28 seizures 33 HP:0001250
29 edema 60 Occasional (29-5%)
30 lymphedema 33 HP:0001004
31 abnormality of the skull 60 Occasional (29-5%)
32 glaucoma 33 HP:0000501
33 hand polydactyly 33 HP:0001161
34 internal hemorrhage 60 Occasional (29-5%)
35 abnormality of blood and blood-forming tissues 33 HP:0001871
36 abnormality of the tricuspid valve 60 Occasional (29-5%)
37 hemihypertrophy 33 HP:0001528
38 lymphangioma 33 HP:0100764
39 macrodactyly 33 HP:0004099
40 syndactyly 33 HP:0001159
41 abnormality of skeletal morphology 60 Very frequent (99-80%)
42 arteriovenous fistula 33 HP:0004947
43 hyperpigmented nevi and streak 33 HP:0005606
44 hand oligodactyly 33 HP:0001180

Symptoms via clinical synopsis from OMIM:

58
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

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

47
# 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 10.07 CCM2 FLT4 FOXC2 GLMN KRIT1 PDCD10
3 embryo MP:0005380 10.01 AGGF1 CCM2 FLT4 FOXC2 GLMN KRIT1
4 mortality/aging MP:0010768 10 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 9.61 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 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 5284616 6436030
2
Everolimus Approved Phase 2, Phase 3 159351-69-6 70789204 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
4
Tranexamic Acid Approved Phase 3 1197-18-8 5526
5 Immunologic Factors Phase 2, Phase 3
6 Antibiotics, Antitubercular Phase 2, Phase 3
7 Anti-Bacterial Agents Phase 2, Phase 3
8 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
9 Immunosuppressive Agents Phase 2, Phase 3
10 Antifungal Agents Phase 2, Phase 3
11 Anti-Infective Agents Phase 2, Phase 3
12 Antifibrinolytic Agents Phase 3
13 Coagulants Phase 3
14 Hemostatics Phase 3
15 Anticonvulsants Phase 1, Phase 2
16 Epidiolex Phase 1, Phase 2
17 Angiogenesis Inhibitors Phase 2
18 Angiogenesis Modulating Agents Phase 2
19
Timolol Approved Phase 1 26839-75-8 5478 33624
20
Maleic acid Experimental, Investigational Phase 1 110-17-8, 110-16-7 444972
21 Neurotransmitter Agents Phase 1
22 Lubricant Eye Drops Phase 1
23 Adrenergic Agents Phase 1
24 Adrenergic Antagonists Phase 1
25 Antihypertensive Agents Phase 1
26 Anti-Arrhythmia Agents Phase 1
27 Ophthalmic Solutions Phase 1
28 Adrenergic beta-Antagonists Phase 1
29 Immunoglobulins
30 Antibodies
31 GTPase-Activating Proteins Not Applicable
32 Endothelial Growth Factors
33 Mitogens

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Recruiting NCT03047980 Phase 2, Phase 3 Sirolimus
2 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
3 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2 Cannabidiol
4 Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS) Withdrawn NCT01997255 Phase 2 Everolimus
5 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
6 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
7 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Terminated NCT01533376 Phase 1 Timolol;Preservative free artificial tear gel.
8 Use of the Atkins Diet for Children With Sturge Weber Syndrome Completed NCT00639730 Phase 1
9 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Unknown status NCT01761981
10 Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Recruiting NCT01425944
11 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
12 Biomarker Development in Sturge-Weber Syndrome Completed NCT01345305
13 French National Cohort of Children With Port Wine Stain Active, not recruiting NCT01364857 Not Applicable
14 Immunmodulation in Patients With HHT Recruiting NCT02983253
15 Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT02690246
16 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
17 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
18 Lymphatic Anomalies Registry Recruiting NCT02399527

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 30

Anatomical Context for Klippel-Trenaunay-Weber Syndrome

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

42
Bone, Skin, Heart, Kidney, Brain, Spleen, Liver

Publications for Klippel-Trenaunay-Weber Syndrome

Articles related to Klippel-Trenaunay-Weber Syndrome:

(show top 50) (show all 645)
# Title Authors Year
1
Vesical Hemangioma in a Patient with Klippel-Trenaunay-Weber Syndrome. ( 30737037 )
2019
2
Klippel-Trenaunay-Weber Syndrome with Atypical Presentation of Cerebral Cavernous Angioma: A Case Report and Literature Review. ( 30905648 )
2019
3
Lymphaticovenular anastomosis for Klippel-Trenaunay-Weber syndrome. ( 31015075 )
2019
4
An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report. ( 30954069 )
2019
5
Septic superficial thrombophlebitis in Klippel-Trenaunay syndrome. ( 30388396 )
2019
6
Marked acanthocytosis in the setting of Klippel-Trenaunay syndrome: A case report. ( 30113765 )
2019
7
Anesthetic challenges in a case of Klippel-Trenaunay Syndrome with severe anaemia. ( 30290279 )
2019
8
Klippel-Trénaunay syndrome: Cutaneous manifestations. ( 30316527 )
2019
9
Kyphoscoliosis with Klippel-Trenaunay syndrome: a case report and literature review. ( 30611239 )
2019
10
Total Knee Arthroplasty Is Safe and Successful in Patients With Klippel-Trénaunay Syndrome. ( 30665834 )
2019
11
Chronic lower extremity wounds in a patient with Klippel Trenaunay syndrome. ( 30734008 )
2019
12
Venous thromboembolic and bleeding complications among pregnant women with Klippel-Trenaunay syndrome. ( 30991120 )
2019
13
Cancer Risk in Klippel-Trenaunay Syndrome. ( 31045469 )
2019
14
Soft tissue angiosarcoma of the breast in a patient with Klippel-Trenaunay-Weber syndrome. ( 30361716 )
2018
15
Klippel-Trenaunay-Weber syndrome as a cause of chronic thromboembolic pulmonary hypertension. ( 29572375 )
2018
16
Fibrous dysplasia and Klippel-Trenaunay syndrome: a rare association. ( 30109016 )
2018
17
Large frontal osseous hemangioma with dural sinus involvement in a patient with Klippel-Trenaunay syndrome: A rare case report. ( 30386675 )
2018
18
Spinal Cavernous Angioma Associated with Klippel-Trenaunay-Weber Syndrome: Case Report and Literature Review. ( 29054771 )
2018
19
Management of Pregnancy with Klippel-Trenaunay-Weber Syndrome: A Case Report and Review. ( 30112237 )
2018
20
Lymphangioma Circumscriptum in Vulva with Klippel-Trenaunay Syndrome. ( 29451158 )
2018
21
Combined capillary-venous-lymphatic malformations without overgrowth in patients with Klippel-Trénaunay syndrome. ( 29233587 )
2018
22
CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH KLIPPEL-TRENAUNAY SYNDROME. ( 28937525 )
2018
23
Cerebral and spinal cavernomas associated with Klippel-Trenaunay syndrome: case report and literature review. ( 29197023 )
2018
24
Medical treatment of a female patient with complicated Klippel-Trenaunay syndrome. ( 29241638 )
2018
25
Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report. ( 29452831 )
2018
26
An Inferior Vena Cava Aneurysm in a Patient with Klippel-Trenaunay Syndrome. ( 29518509 )
2018
27
Management of giant embryonic vein in Klippel-Trénaunay syndrome. ( 29773423 )
2018
28
High levels of serum sclerostin and DKK1 in a case of Klippel-Trénaunay syndrome. ( 29774401 )
2018
29
Pain, psychiatric comorbidities, and psychosocial stressors associated with Klippel-Trenaunay syndrome. ( 29883592 )
2018
30
Gastrointestinal tract involvement in Klippel-Trénaunay syndrome. ( 29893236 )
2018
31
Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome. ( 29909856 )
2018
32
Klippel-Trenaunay Syndrome: A Dramatic Presentation. ( 30017506 )
2018
33
Successful use of spinal anesthesia for an urgent cesarean section in a parturient with a severe Klippel-Trénaunay syndrome. ( 30301321 )
2018
34
Radiological Aspect of Klippel-Trénaunay Syndrome: A Case Series With Review of Literature. ( 30341531 )
2018
35
Abnormal Uterine Bleeding in a Patient with Klippel-Trenaunay Syndrome. ( 30472303 )
2018
36
Superficial Femoral Venous Aneurysm in a Patient with Klippel-Trenaunay Syndrome: The Femoral Hernia Mimic. ( 30500630 )
2018
37
Klippel-Trenaunay Syndrome, a Rare Cause of Hematochezia. ( 30627267 )
2018
38
Posterior cerebral artery giant aneurysm associated with bilateral internal carotid artery occlusion in a Klippel-Trenaunay syndrome patient: a case report. ( 29069941 )
2017
39
Growing skull hemangioma: first and unique description in a patient with Klippel-Trénaunay-Weber syndrome. ( 27822901 )
2017
40
Klippel-Trenaunay-Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report. ( 28823249 )
2017
41
A case of an inverse Klippel-Trenaunay Syndrome. ( 29050451 )
2017
42
Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect. ( 28782176 )
2017
43
Multimodal Imaging in Klippel-Trénaunay-Weber Syndrome: Clinical Photography, Computed Tomoangiography, Infrared Thermography, and 99mTc-Phytate Lymphoscintigraphy. ( 29036002 )
2017
44
Complicated Total Knee Arthroplasty in a Patient with Klippel-Trenaunay-Weber Syndrome: A Case Report. ( 29244707 )
2017
45
Phakomatosis pigmentovascularis type IIb: A case with Klippel-Trenáunay syndrome and extensive dermal melanocytosis as nevus of Ota, nevus of Ito and ectopic Mongolian spots. ( 27374914 )
2017
46
A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma. ( 28724825 )
2017
47
Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome. ( 27901321 )
2017
48
Thoracic Manifestations of Klippel-Trenaunay Syndrome. ( 28266961 )
2017
49
Complications of pregnancy and labour in women with Klippel-Trénaunay syndrome: a nationwide cross-sectional study. ( 28432715 )
2017
50
A rare presentation of Klippel-Trenaunay syndrome with bilateral lower limbs. ( 28458832 )
2017

Variations for Klippel-Trenaunay-Weber Syndrome

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

76
# 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
Show member pathways
11.9 FLT4 KRIT1 RASA1 SYNGAP1
2
Show member pathways
10.93 AGGF1 RASA1 SYNGAP1
3 10.85 KRIT1 RASA1

GO Terms for Klippel-Trenaunay-Weber Syndrome

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.65 AGGF1 FLT4 KRIT1 PDCD10 SOX18
2 heart development GO:0007507 9.63 CCM2 FOXC2 SOX18
3 vasculature development GO:0001944 9.5 CCM2 FLT4 SOX18
4 blood vessel development GO:0001568 9.49 FOXC2 SOX18
5 positive regulation of endothelial cell migration GO:0010595 9.48 FLT4 FOXC2
6 blood vessel morphogenesis GO:0048514 9.43 FLT4 RASA1
7 negative regulation of Ras protein signal transduction GO:0046580 9.4 RASA1 SYNGAP1
8 embryonic heart tube development GO:0035050 9.37 FOXC2 SOX18
9 lymph vessel development GO:0001945 9.33 FLT4 FOXC2 SOX18
10 lymphangiogenesis GO:0001946 9.13 FLT4 FOXC2 SOX18
11 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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