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KTS
MCID: KLP010
MIFTS: 57

Klippel-Trenaunay-Weber Syndrome (KTS)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin 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
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
Klippel-Trénaunay-Weber Syndrome 53
Congenital Dysplastic Angiopathy 25
Klippel-Trenaunay Syndrome; Kts 57
Klippeltr�naunayweber Syndrome 76
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: Eye diseases Cardiovascular diseases Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare eye diseases
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


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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 Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related phenotypes are macrocephaly and intellectual disability

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 151)
# Related Disease Score Top Affiliating Genes
1 weber syndrome 31.9 SST RASA1 KTWS
2 hemangioma 30.5 KRIT1 FLT4 CCM2
3 proteus syndrome 30.3 RASA1 AGGF1
4 cavernous hemangioma 30.2 PDCD10 KRIT1 CCM2
5 lymphedema 30.1 SOX18 FOXC2 FLT4
6 congenital lymphedema 30.0 FOXC2 FLT4
7 varicose veins 29.9 FOXC2 AGGF1
8 human venous malformation 29.8 PDCD10 KRIT1 GLMN CCM2
9 inverse klippel-trénaunay syndrome 12.4
10 hemihyperplasia, isolated 11.6
11 megalencephaly-capillary malformation-polymicrogyria syndrome 11.4
12 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.4
13 frasier syndrome 11.4
14 kohlschutter-tonz syndrome 11.2
15 angioosteohypertrophic syndrome 11.2
16 skin creases, congenital symmetric circumferential, 1 11.1
17 hemimegalencephaly 10.7
18 sturge-weber syndrome 10.6
19 pulmonary embolism 10.6
20 arteriovenous fistula 10.5
21 arteriovenous malformation 10.5
22 lymphangioma 10.5
23 hydronephrosis 10.4
24 nephrotic syndrome 10.4
25 paraplegia 10.4
26 phacomatosis pigmentovascularis 10.4
27 splenomegaly 10.4
28 lymphangiectasis 10.4
29 glioma susceptibility 1 10.3
30 hemangioma-thrombocytopenia syndrome 10.3
31 kaposi sarcoma 10.3
32 vesicoureteral reflux 1 10.3
33 cryptorchidism, unilateral or bilateral 10.3
34 persistent hyperplastic primary vitreous, autosomal recessive 10.3
35 stroke, ischemic 10.3
36 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.3
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
38 pulmonary hypertension 10.3
39 hydrocephalus 10.3
40 sacrococcygeal teratoma 10.3
41 angiosarcoma 10.3
42 osteoblastoma 10.3
43 scoliosis 10.3
44 thrombosis 10.3
45 polycystic kidney disease 10.3
46 portal hypertension 10.3
47 intracranial aneurysm 10.3
48 sarcoma 10.3
49 disseminated intravascular coagulation 10.3
50 cystadenoma 10.3

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 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
3 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
4 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
5 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
6 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
7 hypercoagulability 59 32 occasional (7.5%) Occasional (29-5%) HP:0100724
8 pulmonary embolism 59 32 frequent (33%) Frequent (79-30%) HP:0002204
9 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
10 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
11 hydrops fetalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001789
12 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
13 microcytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001935
14 venous thrombosis 59 32 frequent (33%) Frequent (79-30%) HP:0004936
15 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
16 gastrointestinal hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0002239
17 cellulitis 59 32 frequent (33%) Frequent (79-30%) HP:0100658
18 abnormality of the menstrual cycle 59 32 occasional (7.5%) Occasional (29-5%) HP:0000140
19 prolonged bleeding time 59 32 occasional (7.5%) Occasional (29-5%) HP:0003010
20 venous insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0005293
21 abnormality of the pulmonary artery 59 32 occasional (7.5%) Occasional (29-5%) HP:0004414
22 lower limb asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0100559
23 peripheral arteriovenous fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0100784
24 tall stature 59 32 frequent (33%) Frequent (79-30%) HP:0000098
25 upper limb asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0100560
26 hemangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001028
27 seizures 32 HP:0001250
28 edema 59 Occasional (29-5%)
29 lymphedema 32 HP:0001004
30 abnormality of the skull 59 Occasional (29-5%)
31 glaucoma 32 HP:0000501
32 hand polydactyly 32 HP:0001161
33 internal hemorrhage 59 Occasional (29-5%)
34 abnormality of blood and blood-forming tissues 32 HP:0001871
35 abnormality of the tricuspid valve 59 Occasional (29-5%)
36 hemihypertrophy 32 HP:0001528
37 lymphangioma 32 HP:0100764
38 macrodactyly 32 HP:0004099
39 syndactyly 32 HP:0001159
40 abnormality of skeletal morphology 59 Very frequent (99-80%)
41 arteriovenous fistula 32 HP:0004947
42 hyperpigmented nevi and streak 32 HP:0005606
43 hand oligodactyly 32 HP:0001180
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 AGGF1 CCM2 FLT4 FOXC2 GLMN KRIT1
4 mortality/aging MP:0010768 9.96 AGGF1 CCM2 FLT4 FOXC2 GLMN KRIT1
5 immune system MP:0005387 9.87 CCM2 FLT4 FOXC2 PDCD10 RASA1 SOX18
6 digestive/alimentary MP:0005381 9.83 FLT4 FOXC2 RASA1 SOX18 SST
7 muscle MP:0005369 9.63 CCM2 FLT4 FOXC2 KRIT1 PDCD10 RASA1
8 nervous system MP:0003631 9.56 AGGF1 CCM2 FOXC2 GLMN KRIT1 PDCD10
9 normal MP:0002873 9.1 CCM2 FLT4 FOXC2 PDCD10 SOX18 SST
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
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
2
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 6436030 5284616
3
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
4
Tranexamic Acid Approved Phase 3 1197-18-8 5526
5 Anti-Infective Agents Phase 2, Phase 3
6 Immunologic Factors Phase 2, Phase 3
7 Antibiotics, Antitubercular Phase 2, Phase 3
8 Antifungal Agents Phase 2, Phase 3
9 Anti-Bacterial Agents Phase 2, Phase 3
10 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
11 Immunosuppressive 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 Angiogenesis Modulating Agents Phase 2
17 Angiogenesis Inhibitors Phase 2
18
Timolol Approved Phase 1 26839-75-8 33624 5478
19
Maleic acid Experimental Phase 1 110-16-7 444266
20 Anti-Arrhythmia Agents Phase 1
21 Adrenergic beta-Antagonists Phase 1
22 Adrenergic Agents Phase 1
23 Neurotransmitter Agents Phase 1
24 Ophthalmic Solutions Phase 1
25 Antihypertensive Agents Phase 1
26 Adrenergic Antagonists Phase 1
27 Lubricant Eye Drops Phase 1
28 Immunoglobulins
29 Antibodies
30 GTPase-Activating Proteins Not Applicable
31 Endothelial Growth Factors
32 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 Recruiting 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

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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 551)
# 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
Soft tissue angiosarcoma of the breast in a patient with Klippel-Trenaunay-Weber syndrome. ( 30361716 )
2018
5
Fibrous dysplasia and Klippel-Trenaunay syndrome: a rare association. ( 30109016 )
2018
6
Large frontal osseous hemangioma with dural sinus involvement in a patient with Klippel-Trenaunay syndrome: A rare case report. ( 30386675 )
2018
7
Superficial femoral venous aneurysm in a patient with Klippel-Trenaunay Syndrome: the inguinal hernia mimic. ( 30500630 )
2018
8
Management of Pregnancy with Klippel-Trenaunay-Weber Syndrome: A Case Report and Review. ( 30112237 )
2018
9
Septic superficial thrombophlebitis in Klippel-Trenaunay syndrome. ( 30388396 )
2018
10
CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH KLIPPEL-TRENAUNAY SYNDROME. ( 28937525 )
2018
11
Cerebral and spinal cavernomas associated with Klippel-Trenaunay syndrome: case report and literature review. ( 29197023 )
2018
12
Medical treatment of a female patient with complicated Klippel-Trenaunay syndrome. ( 29241638 )
2018
13
Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report. ( 29452831 )
2018
14
An Inferior Vena Cava Aneurysm in a Patient with Klippel-Trenaunay Syndrome. ( 29518509 )
2018
15
Management of giant embryonic vein in Klippel-Trénaunay syndrome. ( 29773423 )
2018
16
High levels of serum sclerostin and DKK1 in a case of Klippel-Trénaunay syndrome. ( 29774401 )
2018
17
Pain, psychiatric comorbidities, and psychosocial stressors associated with Klippel-Trenaunay syndrome. ( 29883592 )
2018
18
Gastrointestinal tract involvement in Klippel-Trénaunay syndrome. ( 29893236 )
2018
19
Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome. ( 29909856 )
2018
20
Klippel-Trenaunay Syndrome: A Dramatic Presentation. ( 30017506 )
2018
21
Marked acanthocytosis in the setting of Klippel-Trenaunay syndrome: A case report. ( 30113765 )
2018
22
Anesthetic challenges in a case of Klippel-Trenaunay Syndrome with severe anaemia. ( 30290279 )
2018
23
Successful use of spinal anesthesia for an urgent cesarean section in a parturient with a severe Klippel-Trénaunay syndrome. ( 30301321 )
2018
24
Klippel-Trénaunay syndrome: Cutaneous manifestations. ( 30316527 )
2018
25
Radiological Aspect of Klippel-Trénaunay Syndrome: A Case Series With Review of Literature. ( 30341531 )
2018
26
Abnormal Uterine Bleeding in a Patient with Klippel-Trenaunay Syndrome. ( 30472303 )
2018
27
A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma. ( 28724825 )
2017
28
Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect. ( 28782176 )
2017
29
Posterior cerebral artery giant aneurysm associated with bilateral internal carotid artery occlusion in a Klippel-Trenaunay syndrome patient: a case report. ( 29069941 )
2017
30
A case of an inverse Klippel-Trenaunay Syndrome. ( 29050451 )
2017
31
Klippel-Trenaunay-Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report. ( 28823249 )
2017
32
Complicated Total Knee Arthroplasty in a Patient with Klippel-Trenaunay-Weber Syndrome: A Case Report. ( 29244707 )
2017
33
Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome. ( 27901321 )
2017
34
Thoracic Manifestations of Klippel-Trenaunay Syndrome. ( 28266961 )
2017
35
Complications of pregnancy and labour in women with Klippel-Trénaunay syndrome: a nationwide cross-sectional study. ( 28432715 )
2017
36
A rare presentation of Klippel-Trenaunay syndrome with bilateral lower limbs. ( 28458832 )
2017
37
Near-infrared fluorescence lymphatic imaging of Klippel-Trénaunay syndrome. ( 28623992 )
2017
38
Diagnosis and management of the venous malformations of Klippel-Trénaunay syndrome. ( 28624001 )
2017
39
Successful Treatment of Unilateral Klippel-Trenaunay Syndrome With Pulsed-Dye Laser in a 2-Week Old Infant. ( 28652904 )
2017
40
Klippel-Trenaunay syndrome: diagnosis in a neonate. ( 28739624 )
2017
41
Pregnancy in women with Klippel-Trenaunay syndrome: Report of three pregnancies in a single patient and review of literature. ( 29225678 )
2017
42
A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics. ( 27141435 )
2016
43
Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). ( 26268729 )
2016
44
Lymphedema in Klippel-Trenaunay Syndrome: Is It Possible to Normalize? ( 27529050 )
2016
45
Surgical treatment of varicose veins and venous malformations in Klippel-Trenaunay syndrome. ( 25788406 )
2016
46
Management of Femoral Shaft Fracture in Klippel-Trenaunay Syndrome with External Fixator. ( 26885423 )
2016
47
Diffuse Venous Malformation of the Uterus in a Pregnant Woman with Klippel-Trénaunay Syndrome Diagnosed by DCE-MRI. ( 27006845 )
2016
48
Life-Threatening Cutaneous Bleeding in Childhood Klippel-Trenaunay Syndrome Treated With Oral Sirolimus. ( 27167017 )
2016
49
Rare Association of Klippel-Trenaunay Syndrome with Large Pulmonary Embolism and Asymmetrical Emphysematous Bullae. ( 27225153 )
2016
50
Klippel-Trénaunay Syndrome: Need for Careful Clinical Classification. ( 27492391 )
2016
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 11)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.65 AGGF1 FLT4 KRIT1 PDCD10 SOX18
2 heart development GO:0007507 9.61 CCM2 FOXC2 SOX18
3 vasculature development GO:0001944 9.5 CCM2 FLT4 SOX18
4 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.49 FLT4 FOXC2
5 blood vessel development GO:0001568 9.48 FOXC2 SOX18
6 positive regulation of endothelial cell migration GO:0010595 9.46 FLT4 FOXC2
7 blood vessel morphogenesis GO:0048514 9.4 FLT4 RASA1
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
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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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