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
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Aliases & Classifications for Klippel-Trenaunay-Weber Syndrome

MalaCards integrated aliases for Klippel-Trenaunay-Weber Syndrome:

Name: Klippel-Trenaunay-Weber Syndrome 57 11 19 12 43
Klippel-Trenaunay Syndrome 57 11 19 42 52 58 73 53 14
Kts 57 19 42 73
Klippel-Trénaunay-Weber Syndrome 19 75
Angio-Osteohypertrophy Syndrome 19 42
Angioosteohypertrophy Syndrome 57 11
Klippel Trenaunay Syndrome 19 5
Ktw Syndrome 57 19
Congenital Dysplastic Angiopathy 42
Haemangiectatic Hypertrophy 11
Klippel-Trenaunay Disease 42
Weber-Klippel-Trenaunay 19
Weber Klippel Trenaunay 71

Characteristics:


Inheritance:

Klippel-Trenaunay-Weber Syndrome: Isolated cases 57
Klippel-Trenaunay Syndrome: Multigenic/multifactorial 58

Prevelance:

Klippel-Trenaunay Syndrome: <1/1000000 (United States, Europe) 58

Age Of Onset:

Klippel-Trenaunay Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Klippel-Trenaunay-Weber Syndrome

MedlinePlus Genetics: 42 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.Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. The affected area may become lighter or darker with age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily.Klippel-Trenaunay syndrome is also associated with overgrowth of bones and soft tissues beginning in infancy. Usually this abnormal growth is limited to one limb, most often one leg. However, overgrowth can also affect the arms or, rarely, the torso. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking.Malformations of veins are the third major feature of Klippel-Trenaunay syndrome. These abnormalities include varicose veins, which are swollen and twisted veins near the surface of the skin that often cause pain. Varicose veins usually occur on the sides of the upper legs and calves. Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. Malformations of deep veins increase the risk of a type of blood clot called a deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening blood clot known as a pulmonary embolism (PE).Other complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits (polydactyly).

MalaCards based summary: Klippel-Trenaunay-Weber Syndrome, also known as klippel-trenaunay syndrome, is related to angioosteohypertrophic syndrome and weber syndrome. An important gene associated with Klippel-Trenaunay-Weber Syndrome is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are Signal Transduction and G-protein signaling RAC1 in cellular process. The drugs Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are hemangioma and venous insufficiency

NINDS: 52 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).

GARD: 19 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 genetic changes in the PIK3CA gene.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.

Wikipedia: 75 Klippel-Trénaunay syndrome, formerly Klippel-Trénaunay-Weber syndrome and sometimes... more...

More information 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 463)
# Related Disease Score Top Affiliating Genes
1 angioosteohypertrophic syndrome 33.1 RASA1 PIK3CA GNAQ CCNH
2 weber syndrome 32.3 SST RASA1 KTWS GNAQ GNA11 EPHB4
3 hemangioma 31.6 TEK KRIT1 GNAQ GNA11 FLT4 AKT1
4 capillary malformations, congenital 31.5 PIK3CA GNAQ GNA11
5 lymphangioma 31.5 PIK3CA FLT4 AKT1
6 arteriovenous malformation 31.1 TEK SYNGAP1 RASA1 PDCD10 KRIT1 GLMN
7 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 31.1 SYNGAP1 RASA1 PIK3CA GNAQ GNA11 GLMN
8 cerebral cavernous malformations 31.0 PIK3CA PDCD10 KRIT1 CCM2
9 hereditary lymphedema i 31.0 SOX18 FOXC2 FLT4 EPHB4 CCBE1
10 sturge-weber syndrome 31.0 SYNGAP1 RASA1 PIK3CA GNAQ GNA11 GLMN
11 cavernous hemangioma 31.0 PDCD10 KRIT1 CCM2
12 basal cell carcinoma 1 30.9 RASA1 CCNH
13 breast angiosarcoma 30.8 PIK3CA FLT4
14 capillary malformation-arteriovenous malformation 1 30.8 RASA1 EPHB4 CCNH
15 capillary lymphangioma 30.7 SYNGAP1 RASA1 FLT4 AGGF1
16 angiokeratoma circumscriptum 30.7 TEK SYNGAP1 RASA1 AGGF1
17 hemangioma of subcutaneous tissue 30.7 GLMN AGGF1
18 vascular disease 30.7 TEK SOX18 PDCD10 KRIT1 GLMN CCM2
19 phakomatosis cesioflammea 30.7 GNAQ GNA11
20 taylor's syndrome 30.6 SYNGAP1 RASA1
21 melanoma, uveal 30.6 PIK3CA GNAQ GNA11 AKT1
22 congenital lymphedema 30.6 FOXC2 FLT4
23 arteriovenous malformations of the brain 30.5 TEK SYNGAP1 RASA1 PDCD10 EPHB4
24 hemorrhagic disease 30.5 PDCD10 KRIT1 CCM2
25 hypomelanosis of ito 30.4 GNAQ GNA11
26 primary lymphedema 30.4 SOX18 FOXC2 FLT4 EPHB4
27 capillary hemangioma 30.4 TEK SYNGAP1 RASA1 FLT4
28 cerebral angioma 30.4 TEK PDCD10 KRIT1 GNAQ CCM2
29 proteus syndrome 30.3 SYNGAP1 RASA1 PIK3CA GNAQ GNA11 GLMN
30 hemihyperplasia, isolated 11.5
31 inverse klippel-trenaunay syndrome 11.4
32 kohlschutter-tonz syndrome 11.1
33 varicose veins 10.9
34 rare lymphatic malformation 10.6
35 hemimegalencephaly 10.6
36 spinal cord disease 10.6
37 venous insufficiency 10.6
38 thrombophilia due to thrombin defect 10.5
39 hyperostosis 10.5
40 pulmonary embolism 10.5
41 chronic venous insufficiency 10.5
42 hemangioma-thrombocytopenia syndrome 10.5
43 overgrowth syndrome 10.5
44 stork bite 10.4 RASA1 GLMN
45 basal cell carcinoma, multiple 10.4 RASA1 CCNH
46 hemifacial hyperplasia 10.4
47 disseminated intravascular coagulation 10.4
48 optic nerve disease 10.4
49 acromegaly 10.4
50 cystic lymphangioma 10.4

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:

58 30 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hemangioma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001028
2 venous insufficiency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005293
3 lower limb asymmetry 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100559
4 upper limb asymmetry 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100560
5 venous thrombosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0004936
6 cellulitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100658
7 gastrointestinal hemorrhage 58 30 Frequent (33%) Frequent (79-30%)
HP:0002239
8 tall stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0000098
9 pulmonary embolism 58 30 Frequent (33%) Frequent (79-30%)
HP:0002204
10 macrocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000256
11 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
12 respiratory insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002093
13 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002240
14 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000252
15 congestive heart failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001635
16 ascites 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001541
17 hydrops fetalis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001789
18 atrial septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001631
19 microcytic anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001935
20 hematuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000790
21 patent ductus arteriosus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001643
22 abnormality of the menstrual cycle 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000140
23 prolonged bleeding time 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003010
24 abnormality of the pulmonary artery 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004414
25 abnormal tricuspid valve morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001702
26 peripheral arteriovenous fistula 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100784
27 hypercoagulability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100724
28 lymphedema 30 HP:0001004
29 abnormal skull morphology 58 Occasional (29-5%)
30 glaucoma 30 HP:0000501
31 hand polydactyly 30 HP:0001161
32 internal hemorrhage 58 Occasional (29-5%)
33 hemihypertrophy 30 HP:0001528
34 macrodactyly 30 HP:0004099
35 abnormality of skeletal morphology 58 Very frequent (99-80%)
36 hand oligodactyly 30 HP:0001180
37 lymphangioma 30 HP:0100764
38 abnormality of blood and blood-forming tissues 30 HP:0001871
39 edema 58 Occasional (29-5%)
40 arteriovenous fistula 30 HP:0004947
41 syndactyly 30 HP:0001159
42 seizure 30 HP:0001250
43 hyperpigmented nevi and streak 30 HP:0005606

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Cardiovascular Vascular:
lymphedema
lymphangioma
arteriovenous fistula
large cutaneous hemangiomata, capillary and cavernous

Skeletal Limbs:
oligodactyly
macrodactyly
polydactyly
syndactyly
asymmetric limb hypertrophy

Skin Nails Hair Skin:
hyperpigmented nevi and streak

Head And Neck Eyes:
glaucoma

Neurologic Central Nervous System:
seizure
mental retardation

Hematology:
kasabach-merritt syndrome

Clinical features from OMIM®:

149000 (Updated 24-Oct-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.28 AGGF1 AKT1 CCM2 FOXC2 GLMN GNA11
2 growth/size/body region MP:0005378 10.27 AKT1 CCM2 EPHB4 FLT4 FOXC2 GLMN
3 normal MP:0002873 10.2 AKT1 CCBE1 CCM2 FLT4 FOXC2 GNA11
4 muscle MP:0005369 10.18 AKT1 CCM2 EPHB4 FLT4 FOXC2 GNA11
5 cardiovascular system MP:0005385 10.13 AGGF1 AKT1 CCM2 EPHB4 FLT4 FOXC2
6 embryo MP:0005380 10.1 AGGF1 AKT1 CCM2 EPHB4 FLT4 FOXC2
7 immune system MP:0005387 9.97 AKT1 CCBE1 CCM2 EPHB4 FLT4 FOXC2
8 mortality/aging MP:0010768 9.91 AGGF1 AKT1 CCBE1 CCM2 EPHB4 FLT4
9 integument MP:0010771 9.36 AKT1 CCBE1 CCM2 FLT4 GNA11 GNAQ

Drugs & Therapeutics for Klippel-Trenaunay-Weber Syndrome

Drugs for Klippel-Trenaunay-Weber Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# 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 5284616 6436030
3
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
4
Glycolic acid Approved, Investigational Phase 3 79-14-1 757
5 Immunosuppressive Agents Phase 2, Phase 3
6 Immunologic Factors Phase 2, Phase 3
7 Anti-Infective Agents Phase 2, Phase 3
8 Antifungal Agents Phase 2, Phase 3
9 Antibiotics, Antitubercular Phase 2, Phase 3
10 Anti-Bacterial Agents Phase 2, Phase 3
11 Mitomycins Phase 3
12
Cannabidiol Approved, Investigational Phase 2 13956-29-1 521372 644019
13 Anticonvulsants Phase 2
14 Pharmaceutical Solutions Phase 2
15 Ophthalmic Solutions Phase 2
16
Timolol Approved Phase 1 26839-75-8 5478 33624
17
Maleic acid Experimental, Investigational Phase 1 110-16-7, 110-17-8 444266 444972
18 Adrenergic Antagonists Phase 1
19 Lubricant Eye Drops Phase 1
20 Adrenergic Agents Phase 1
21 Antihypertensive Agents Phase 1
22 Anti-Arrhythmia Agents Phase 1
23 Neurotransmitter Agents Phase 1
24 Adrenergic beta-Antagonists Phase 1
25 GTPase-Activating Proteins
26 Antibodies
27 Immunoglobulins
28 Mitogens
29 Endothelial Growth Factors

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Completed NCT03047980 Phase 2, Phase 3 Sirolimus
2 Ahmed Valve Implantation Coated With Poly Lactic -Co-glycolic Acid (PLGA) Saturated With Mitomycin-C in the Management of Adult Onset Glaucoma in Sturge Weber Syndrome Recruiting NCT04735601 Phase 3
3 Phase II, Randomized, Triple Blind, Intra-individually Placebo-controlled Clinical Trial to Assess the Efficacy and Safety of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome. Completed NCT02080624 Phase 2 Drug: Topical Rapamycin
4 Novel Cognitive Treatment Targets for Epidiolex in Sturge- Weber Syndrome: A Phase II Trial Completed NCT04447846 Phase 2 Cannabidiol
5 Masked, Randomized, Single-site, Crossover Study to Determine the Safety and Tolerability of 2 Concentrations of QLS-101 Dosed for 14 Days in Adult Subjects With Sturge-Weber Syndrome (SWS)-Related Glaucoma Due to Elevated Episcleral Venous Pressure (EVP) Completed NCT04947124 Phase 2 QLS-101ophthalmic solution 1%;QLS-101ophthalmic solution 2%
6 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Completed NCT02332655 Phase 1, Phase 2 Cannabidiol
7 Pilot, Open-label Study of Safety and Tolerability of QLS-101 in Adolescents With Sturge-Weber Syndrome (SWS)-Related Glaucoma Due to Elevated Episcleral Venous Pressure (EVP) Not yet recruiting NCT05495269 Phase 2 QLS-101 ophthalmic solution, 2.0 %
8 An Open-Label Controlled Study of Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome Withdrawn NCT01997255 Phase 2 Everolimus
9 Use of the Atkins Diet for Children With Sturge Weber Syndrome Completed NCT00639730 Phase 1
10 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Terminated NCT01533376 Phase 1 Timolol;Preservative free artificial tear gel.
11 French National Prospective Cohort of Children With Port Wine Stain on a Limb = "Cohorte Nationale d'Enfants Avec Angiome Plan de Membre inférieur" Unknown status NCT01364857
12 Validation of Core Biopsy of Vascular Anomalies for Clinical Pathology and Genomics Completed NCT04836884
13 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
14 Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step Toward Biomarker Development Completed NCT01345305
15 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
16 Lymphatic Anomalies Registry for the Assessment of Outcome Data Recruiting NCT02399527
17 Use of a Tonometer to Identify Focal Cortical Dysplasia and Tuberous Sclerosis Complex During Pediatric Epilepsy Surgery Recruiting NCT04344626
18 Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome Recruiting NCT04717427
19 Longitudinal Neuroimaging in Sturge-Weber Syndrome Recruiting NCT04517565
20 The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Active, not recruiting NCT01425944
21 Evaluation Nationale Des Enfants et Adultes Avec Syndromes d'Hypercroissance Dysharmonieuse National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS) Not yet recruiting NCT05563831

Search NIH Clinical Center for Klippel-Trenaunay-Weber Syndrome

Cochrane evidence based reviews: klippel-trenaunay-weber syndrome

Genetic Tests for Klippel-Trenaunay-Weber Syndrome

Anatomical Context for Klippel-Trenaunay-Weber Syndrome

Organs/tissues related to Klippel-Trenaunay-Weber Syndrome:

MalaCards : Skin, Bone, Eye, Spleen, Heart, Liver, Brain

Publications for Klippel-Trenaunay-Weber Syndrome

Articles related to Klippel-Trenaunay-Weber Syndrome:

(show top 50) (show all 1209)
# Title Authors PMID Year
1
Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? 53 62 57
16443853 2006
2
Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. 53 62 57
14961121 2004
3
Identification and molecular characterization of a de novo supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay syndrome. 62 57
15225160 2004
4
Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome. 62 57
12063397 2001
5
Klippel-Trenaunay syndrome. 62 57
10925375 2000
6
Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes. 62 57
10712200 2000
7
Klippel-Trenaunay syndrome. 62 57
9781914 1998
8
Increased parental age and number of pregnancies in Klippel-Trenaunay-Weber syndrome. 62 57
9803268 1998
9
Prenatal diagnosis of Klippel-Trénaunay-Weber syndrome as a cause for in utero heart failure and severe postnatal sequelae. 62 57
9467816 1997
10
A new case of Klippel-Trenaunay-Weber (KTW) syndrome: evidence of autosomal dominant inheritance. 62 57
8737646 1996
11
Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation. 62 57
8585570 1995
12
Klippel-Trenaunay syndrome: clinical features, complications and management in children. 62 57
7542989 1995
13
Klippel-Trenaunay syndrome: is it a paradominant trait? 62 57
8388238 1993
14
Genetic aspects of the Klippel-Trenaunay syndrome. 62 57
1319193 1992
15
Uterine haemangioma in Klippel-Trenaunay-Weber syndrome. 62 57
2850361 1988
16
Nonimmune hydrops fetalis associated with angioosteohypertrophy (Klippel-Trenaunay) syndrome. 62 57
2847530 1988
17
Renal hemangioma and renal artery aneurysm in the Klippel-Trenaunay syndrome. 62 57
2837586 1988
18
Klippel-Trenaunay-Weber syndrome (angio-osteohypertrophy syndrome). 62 57
2835482 1988
19
The cutaneous manifestations of the Klippel-Trenaunay-Weber syndrome. 62 57
2820629 1987
20
The angioosteohypertrophy syndrome. 62 57
5943999 1966
21
THE KLIPPEL-TRENAUNAY SYNDROME: VARICOSITY, HYPERTROPHY AND HEMANGIOMA WITH NO ARTERIOVENOUS FISTULA. 62 57
14327016 1965
22
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 57
22658544 2012
23
Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes. 57
17937434 2007
24
The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population. 57
17103452 2006
25
Klippel-Trénaunay syndrome with multiple pulmonary emboli--an unusual cause of progressive pulmonary dysfunction. 57
7707572 1995
26
Parental age in sporadic hereditary retinoblastoma. 57
2248323 1990
27
Parental age and seasonal variation in the births of children with sporadic retinoblastoma: a mutation-epidemiologic study. 57
2298450 1990
28
Klippel and Trénaunay's syndrome. 768 operated cases. 57
2983626 1985
29
Ikeda S: Sturge-Weber and Klippel-Trénaunay syndrome with nevus of ota and ito. 57
5501905 1970
30
Congenital arteriovenous fistulae of the extremities. 57
13292864 1956
31
Novel roles of GATA1 in regulation of angiogenic factor AGGF1 and endothelial cell function. 53 62
19556247 2009
32
Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis. 53 62
15905966 2005
33
Update on the molecular genetics of vascular anomalies. 53 62
16379592 2005
34
Options in the treatment of superficial and deep venous disease in patients with Klippel-Trenaunay syndrome. 62
35779829 2022
35
Concomitant Klippel-Trenaunay-Weber syndrome with pelvic arteriovenous malformation and May-Thurner syndrome: A rare presentation. 62
36272519 2022
36
Vascular Anomaly Syndromes in the ISSVA Classification System: Imaging Findings and Role of Interventional Radiology in Management. 62
36190850 2022
37
Capillary Malformations. 62
36243429 2022
38
Klippel Trenaunay syndrome in a 3-year-old: A case report. 62
36170793 2022
39
Hypercoagulability in patients with indirect carotid cavernous fistulas. 62
34635794 2022
40
Klippel-Trenaunay Syndrome. 62
36190869 2022
41
Klippel-Trenaunay syndrome with gastrointestinal involvement and portal hypertension-evaluation and management. 62
35527218 2022
42
Klippel-Trenaunay Syndrome. 62
36171122 2022
43
Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations. 62
36171295 2022
44
Klippel-Trenaunay Syndrome: Employment of a New Endovascular Treatment Technique-Mechanochemical Ablation Using the Flebogrif System. 62
36142903 2022
45
Klippel-Trenaunay Syndrome With Atypical Presentation of Small Port-Wine Stain. 62
36158438 2022
46
Novel Management of a Femoral Fracture in Klippel-Trenaunay Syndrome. 62
35949790 2022
47
[Management of pregnant woman with Klippel-Trenaunay syndrome: A rare and complex situation, about a case report]. 62
35472443 2022
48
Phakomatosis pigmentovascularis type IIb with Klippel-Trenaunay syndrome: Association with GNAQ mutation in vascular endothelial cells. 62
35906786 2022
49
Anaesthetic management of an abdominal aortic aneurysmorrhaphy in Klippel-Trenaunay-Weber syndrome: a case report. 62
35820847 2022
50
Qualitative research with patients and caregivers of patients with PIK3CA related overgrowth spectrum: content validity of clinical outcome assessments. 62
35829859 2022

Variations for Klippel-Trenaunay-Weber Syndrome

ClinVar genetic disease variations for Klippel-Trenaunay-Weber Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3CA NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly) SNV Pathogenic
1098323 GRCh37: 3:178948044-178948044
GRCh38: 3:179230256-179230256
2 PIK3CA NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) SNV Pathogenic
156446 rs587777790 GRCh37: 3:178917478-178917478
GRCh38: 3:179199690-179199690
3 PIK3CA NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) SNV Pathogenic
419222 rs1064793732 GRCh37: 3:178922324-178922324
GRCh38: 3:179204536-179204536
4 RASA1, CCNH NM_002890.3(RASA1):c.1980_1981dup (p.Lys661fs) DUP Pathogenic
1172579 GRCh37: 5:86670700-86670701
GRCh38: 5:87374883-87374884
5 RASA1, CCNH NM_002890.3(RASA1):c.543G>A (p.Trp181Ter) SNV Pathogenic
1172580 GRCh37: 5:86627168-86627168
GRCh38: 5:87331351-87331351
6 RASA1, CCNH NM_002890.3(RASA1):c.768C>A (p.Tyr256Ter) SNV Pathogenic
1172581 GRCh37: 5:86628399-86628399
GRCh38: 5:87332582-87332582
7 PIK3CA NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) SNV Pathogenic
39703 rs587776932 GRCh37: 3:178947865-178947865
GRCh38: 3:179230077-179230077
8 GNAQ NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) SNV Pathogenic
50853 rs397514698 GRCh37: 9:80412493-80412493
GRCh38: 9:77797577-77797577

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

73
# 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:

(show all 27)
# Super pathways Score Top Affiliating Genes
1 13.64 TEK SYNGAP1 SST RASA1 PIK3CA GNAQ
2
Show member pathways
12.24 TEK RASA1 PIK3CA FLT4 EPHB4
3
Show member pathways
12.17 AKT1 GNA11 GNAQ PIK3CA
4
Show member pathways
12.13 RASA1 PIK3CA FLT4 AKT1
5
Show member pathways
12.08 TEK PIK3CA FLT4 AKT1
6
Show member pathways
11.96 PIK3CA GNAQ GNA11 AKT1
7
Show member pathways
11.86 RASA1 PIK3CA AKT1
8 11.84 PIK3CA GNAQ AKT1
9
Show member pathways
11.83 RASA1 PIK3CA AKT1
10 11.73 GNAQ GNA11 AKT1
11
Show member pathways
11.72 PIK3CA GNAQ GNA11 AKT1
12
Show member pathways
11.64 PIK3CA FLT4 AKT1
13 11.51 RASA1 PIK3CA AKT1
14 11.43 PIK3CA GNAQ AKT1
15 11.36 TEK SYNGAP1 RASA1 PIK3CA FLT4 AKT1
16 11.32 PIK3CA GNAQ AKT1
17 11.28 RASA1 PIK3CA AKT1
18 11.18 TEK RASA1 PIK3CA
19 11.11 AKT1 EPHB4 FLT4
20 10.89 PIK3CA AKT1
21 10.88 PIK3CA EPHB4
22 10.88 PIK3CA AKT1
23 10.83 RASA1 PIK3CA AKT1
24 10.71 PIK3CA FLT4 AKT1
25 10.66 AKT1 PIK3CA
26 10.45 TEK FLT4
27 10.41 TEK PIK3CA AKT1

GO Terms for Klippel-Trenaunay-Weber Syndrome

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 10.11 CCM2 FOXC2 GNA11 SOX18 TEK
2 positive regulation of endothelial cell migration GO:0010595 10.07 AKT1 CCBE1 FLT4 FOXC2 TEK
3 positive regulation of endothelial cell proliferation GO:0001938 10.03 TEK FLT4 AKT1 AGGF1
4 regulation of angiogenesis GO:0045765 9.97 PDCD10 KRIT1 CCM2
5 vasculogenesis GO:0001570 9.96 SOX18 RASA1 GLMN CCM2 AGGF1
6 sprouting angiogenesis GO:0002040 9.95 TEK FLT4 CCBE1
7 endothelium development GO:0003158 9.88 PDCD10 KRIT1 CCM2
8 vasculature development GO:0001944 9.87 SOX18 PIK3CA FLT4 CCM2
9 phototransduction, visible light GO:0007603 9.85 GNAQ GNA11
10 venous blood vessel morphogenesis GO:0048845 9.83 CCM2 CCBE1
11 entrainment of circadian clock GO:0009649 9.81 GNAQ GNA11
12 lymphangiogenesis GO:0001946 9.76 CCBE1 FLT4 FOXC2 SOX18
13 blood vessel development GO:0001568 9.71 SOX18 FOXC2 CCM2
14 angiogenesis GO:0001525 9.55 TEK SOX18 PIK3CA PDCD10 KRIT1 FLT4
15 lymph vessel development GO:0001945 9.35 SOX18 FOXC2 FLT4 CCBE1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.1 TEK FLT4 EPHB4
2 guanyl nucleotide binding GO:0019001 8.96 GNAQ GNA11

Sources for Klippel-Trenaunay-Weber Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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