KTS
MCID: KLP010
MIFTS: 59

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 57 12 20 36 13 44
Klippel-Trenaunay Syndrome 57 12 20 43 53 58 72 54 15
Kts 57 20 43 72
Klippel-Trénaunay-Weber Syndrome 73 20
Angio-Osteohypertrophy Syndrome 20 43
Angioosteohypertrophy Syndrome 57 12
Ktw Syndrome 57 20
Congenital Dysplastic Angiopathy 43
Klippel-Trenaunay Syndrome; Kts 57
Haemangiectatic Hypertrophy 12
Klippel Trenaunay Syndrome 20
Klippel-Trenaunay Disease 43
Weber-Klippel-Trenaunay 20
Weber Klippel Trenaunay 70

Characteristics:

Orphanet epidemiological data:

58
klippel-trenaunay syndrome
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (United States),<1/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
isolated cases


HPO:

31
klippel-trenaunay-weber syndrome:
Inheritance sporadic


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 : 43 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 weber syndrome and arteriovenous malformation. 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 Cytokine Signaling in Immune system and Focal Adhesion. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and spleen, and related phenotypes are hemangioma and venous insufficiency

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

GARD : 20 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.

NINDS : 53 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).

KEGG : 36 Klippel-Trenaunay-Weber syndrome is a rare congenital syndrome, consisting of vascular malformation of blood and lymph vessels. This disease is characterized by a classic triad of cutaneous hemangiomas, varicose veins, and bone or soft tissue hypertrophy causing limb asymmetry. Clinical presentation may vary from being asymptomatic to developing potentially life-threatening complications, such as deep vein thrombosis (DVT), pulmonary embolism (PE), and recurrent bleeding. Most cases arise from sporadic mutations in one or more genes involved in early embryonic angiogenesis.

UniProtKB/Swiss-Prot : 72 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 : 73 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 365)
# Related Disease Score Top Affiliating Genes
1 weber syndrome 32.1 SST RASA1 KTWS GNAQ
2 arteriovenous malformation 31.3 TEK RASA1 PDCD10
3 varicose veins 31.2 FOXC2 F2 AGGF1
4 hereditary lymphedema i 31.1 SOX18 FOXC2 FLT4
5 angiomatosis 31.0 PIK3CA GNAQ
6 sturge-weber syndrome 30.6 SYNGAP1 RASA1 PIK3CA GNAQ
7 hemangioma of subcutaneous tissue 30.5 GLMN AGGF1
8 congenital lymphedema 30.4 FOXC2 FLT4
9 taylor's syndrome 30.3 SYNGAP1 RASA1
10 primary lymphedema 30.3 FOXC2 FLT4
11 vascular disease 30.2 PDCD10 KRIT1 GLMN F2 CCM2
12 active peptic ulcer disease 30.2 SST F2
13 cerebral angioma 30.0 PDCD10 KRIT1 GNAQ CCM2
14 cavernous hemangioma 30.0 PDCD10 KRIT1 F2 CCM2
15 hemangioma 30.0 TEK PDCD10 KRIT1 GNAQ FLT4 F2
16 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 30.0 PIK3CA GNAQ AKT1
17 meningioma, familial 29.9 SST RASA1 PIK3CA PDCD10 AKT1
18 arteriovenous malformations of the brain 29.9 TEK SYNGAP1 RASA1 PDCD10
19 capillary hemangioma 29.8 TEK SYNGAP1 RASA1 FLT4
20 proteus syndrome 29.4 SYNGAP1 RASA1 PIK3CA GNAQ GLMN AKT1
21 angioosteohypertrophic syndrome 11.7
22 hemihyperplasia, isolated 11.5
23 megalencephaly-capillary malformation-polymicrogyria syndrome 11.4
24 inverse klippel-trenaunay syndrome 11.3
25 kohlschutter-tonz syndrome 11.2
26 lymphangioma 10.6
27 rare lymphatic malformation 10.6
28 hemimegalencephaly 10.6
29 pulmonary embolism 10.6
30 thrombophilia due to thrombin defect 10.5
31 venous insufficiency 10.5
32 hyperostosis 10.5
33 hemangioma-thrombocytopenia syndrome 10.5
34 overgrowth syndrome 10.5
35 chronic venous insufficiency 10.4
36 angiokeratoma 10.4
37 paraplegia 10.4
38 gigantism 10.4
39 splenomegaly 10.4
40 deficiency anemia 10.4
41 polydactyly 10.3
42 iron deficiency anemia 10.3
43 iron metabolism disease 10.3
44 glioma susceptibility 1 10.3
45 lipomatosis, multiple 10.3
46 macrodactyly 10.3
47 pulmonary hypertension 10.3
48 scoliosis 10.3
49 pleomorphic lipoma 10.3
50 portal 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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.42 AGGF1 AKT1 CCM2 F2 FLT4 FOXC2
2 growth/size/body region MP:0005378 10.36 AKT1 CCM2 F2 FLT4 FOXC2 GLMN
3 behavior/neurological MP:0005386 10.32 AGGF1 AKT1 CCM2 F2 GNAQ PDCD10
4 embryo MP:0005380 10.27 AGGF1 AKT1 CCM2 F2 FLT4 FOXC2
5 cellular MP:0005384 10.22 AGGF1 AKT1 CCM2 F2 GLMN PDCD10
6 homeostasis/metabolism MP:0005376 10.22 AKT1 CCM2 F2 FLT4 FOXC2 GLMN
7 mortality/aging MP:0010768 10.21 AGGF1 AKT1 CCM2 F2 FLT4 FOXC2
8 immune system MP:0005387 10.18 AKT1 CCM2 F2 FLT4 FOXC2 GNAQ
9 integument MP:0010771 9.97 AKT1 CCM2 F2 FLT4 GNAQ PDCD10
10 muscle MP:0005369 9.97 AKT1 CCM2 F2 FLT4 FOXC2 GNAQ
11 nervous system MP:0003631 9.86 AGGF1 AKT1 CCM2 F2 FOXC2 GLMN
12 normal MP:0002873 9.36 AKT1 CCM2 F2 FLT4 FOXC2 GNAQ

Drugs & Therapeutics for Klippel-Trenaunay-Weber Syndrome

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 6436030 5284616
4 Antibiotics, Antitubercular Phase 2, Phase 3
5 Anti-Bacterial Agents Phase 2, Phase 3
6 Anti-Infective Agents Phase 2, Phase 3
7 Antifungal Agents Phase 2, Phase 3
8 Epidiolex Phase 1, Phase 2
9 Anticonvulsants Phase 1, Phase 2
10
Timolol Approved Phase 1 26839-75-8 33624 5478
11
Maleic acid Experimental Phase 1 110-16-7 444266
12 Pharmaceutical Solutions Phase 1
13 Anti-Arrhythmia Agents Phase 1
14 Adrenergic Antagonists Phase 1
15 Antihypertensive Agents Phase 1
16 Ophthalmic Solutions Phase 1
17 Neurotransmitter Agents Phase 1
18 Adrenergic Agents Phase 1
19 Adrenergic beta-Antagonists Phase 1
20 Lubricant Eye Drops Phase 1
21
Glycolic acid Approved, Investigational Early Phase 1 79-14-1 757
22 GTPase-Activating Proteins
23 Immunoglobulins
24 Antibodies
25 Mitomycins Early Phase 1
26 Mitogens
27 Endothelial Growth Factors

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Active, not recruiting NCT03047980 Phase 2, Phase 3 Sirolimus
2 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
3 Novel Cognitive Treatment Targets for Epidiolex in Sturge- Weber Syndrome: A Phase II Trial Recruiting NCT04447846 Phase 2 Cannabidiol
4 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2 Cannabidiol
5 An Open-Label Controlled Study of Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome Withdrawn NCT01997255 Phase 2 Everolimus
6 Use of the Atkins Diet for Children With Sturge Weber Syndrome Completed NCT00639730 Phase 1
7 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Terminated NCT01533376 Phase 1 Timolol;Preservative free artificial tear gel.
8 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
9 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
10 Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step Toward Biomarker Development Completed NCT01345305
11 Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome Recruiting NCT04717427
12 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 Early Phase 1
13 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
14 Longitudinal Neuroimaging in Sturge-Weber Syndrome Recruiting NCT04517565
15 Use of a Tonometer to Identify Focal Cortical Dysplasia and Tuberous Sclerosis Complex During Pediatric Epilepsy Surgery Recruiting NCT04344626
16 Lymphatic Anomalies Registry for the Assessment of Outcome Data Recruiting NCT02399527
17 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

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

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

40
Skin, Eye, Spleen, Heart, Spinal Cord, Bone, Endothelial

Publications for Klippel-Trenaunay-Weber Syndrome

Articles related to Klippel-Trenaunay-Weber Syndrome:

(show top 50) (show all 1056)
# Title Authors PMID Year
1
Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? 61 54 57
16443853 2006
2
Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. 54 61 57
14961121 2004
3
Identification and molecular characterization of a de novo supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay syndrome. 61 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. 61 57
12063397 2001
5
Klippel-Trenaunay syndrome. 57 61
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. 61 57
10712200 2000
7
Klippel-Trenaunay syndrome. 57 61
9781914 1998
8
Increased parental age and number of pregnancies in Klippel-Trenaunay-Weber syndrome. 57 61
9803268 1998
9
Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation. 61 57
8585570 1995
10
Klippel-Trenaunay syndrome: clinical features, complications and management in children. 57 61
7542989 1995
11
Klippel-Trenaunay syndrome: is it a paradominant trait? 61 57
8388238 1993
12
Genetic aspects of the Klippel-Trenaunay syndrome. 61 57
1319193 1992
13
Uterine haemangioma in Klippel-Trenaunay-Weber syndrome. 61 57
2850361 1988
14
Nonimmune hydrops fetalis associated with angioosteohypertrophy (Klippel-Trenaunay) syndrome. 61 57
2847530 1988
15
Renal hemangioma and renal artery aneurysm in the Klippel-Trenaunay syndrome. 61 57
2837586 1988
16
Klippel-Trenaunay-Weber syndrome (angio-osteohypertrophy syndrome). 61 57
2835482 1988
17
The cutaneous manifestations of the Klippel-Trenaunay-Weber syndrome. 57 61
2820629 1987
18
THE KLIPPEL-TRENAUNAY SYNDROME: VARICOSITY, HYPERTROPHY AND HEMANGIOMA WITH NO ARTERIOVENOUS FISTULA. 61 57
14327016 1965
19
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 57
22658544 2012
20
Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes. 57
17937434 2007
21
The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population. 57
17103452 2006
22
Prenatal diagnosis of Klippel-Trénaunay-Weber syndrome as a cause for in utero heart failure and severe postnatal sequelae. 57
9467816 1997
23
A new case of Klippel-Trenaunay-Weber (KTW) syndrome: evidence of autosomal dominant inheritance. 57
8737646 1996
24
Klippel-Trénaunay syndrome with multiple pulmonary emboli--an unusual cause of progressive pulmonary dysfunction. 57
7707572 1995
25
Parental age in sporadic hereditary retinoblastoma. 57
2248323 1990
26
Parental age and seasonal variation in the births of children with sporadic retinoblastoma: a mutation-epidemiologic study. 57
2298450 1990
27
Klippel and Trénaunay's syndrome. 768 operated cases. 57
2983626 1985
28
Ikeda S: Sturge-Weber and Klippel-Trénaunay syndrome with nevus of ota and ito. 57
5501905 1970
29
The angioosteohypertrophy syndrome. 57
5943999 1966
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. 61 54
19556247 2009
32
Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis. 61 54
15905966 2005
33
Update on the molecular genetics of vascular anomalies. 54 61
16379592 2005
34
Prenatal ultrasound diagnosis of Klippel-Trenaunay-Weber syndrome associated with umbilical cord hemangioma. 61
33210306 2021
35
Clinical presentation and outcomes following endovascular management in a mixed pediatric and adult Klippel-Trenaunay Syndrome population. 61
33753300 2021
36
Orthostatic intolerance with Klippel-Trenaunay syndrome. 61
33655381 2021
37
Intracranial and extracranial vascular manifestations of patients with a clinical diagnosis of Klippel-Trenaunay syndrome. 61
33064164 2021
38
Klippel-Trenaunay syndrome in a young patient with the involvement of gastrointestinal and genitourinary tracts: an unusual and rare presentation. 61
33653847 2021
39
Klippel-Trenaunay syndrome associated to squamous cell carcinoma: a safe choice. 61
33563682 2021
40
Case Series of Concomitant Klippel-Trenaunay Syndrome and May-Thurner Syndrome. 61
33596770 2021
41
A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome. 61
32588787 2021
42
Spinal Neurovascular Malformations in Klippel-Trenaunay Syndrome: A Single Center Study. 61
33073841 2021
43
Skin-Related complications of Klippel-Trenaunay Syndrome: a retrospective review of 410 patients. 61
33070382 2021
44
Significance of lateral marginal vein in Klippel-Trenaunay syndrome. 61
32574397 2021
45
Pregnancy with Klippel-Trenaunay Syndrome: A Critical Case Report. 61
33397882 2021
46
Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature. 61
33492467 2021
47
Potential Utilization of Lymphoscintigraphy in Patients With Klippel-Trenaunay Syndrome. 61
33156055 2021
48
The anatomic distribution of isolated and syndrome-associated port-wine stain. 61
33170527 2021
49
Dilated Epidural Venous Plexus Causing Radiculopathy: A Report of 2 Cases and Review of the Literature. 61
32961358 2020
50
Sclerotherapy treatment of a large venous malformation invading the bladder wall related to Klippel-Trenaunay syndrome. 61
33370935 2020

Variations for Klippel-Trenaunay-Weber Syndrome

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

72
# 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 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 TEK SYNGAP1 RASA1 RAP1A PIK3CA MAP3K3
2
Show member pathways
12.83 RAP1A PIK3CA MAP3K3 FLT4 AKT1
3
Show member pathways
12.79 RASA1 RAP1A PIK3CA MAP3K3 AKT1
4 12.77 PIK3CA GNAQ FLT4 F2 AKT1
5
Show member pathways
12.75 RAP1A PIK3CA GNAQ F2 AKT1
6
Show member pathways
12.64 RASA1 RAP1A PIK3CA MAP3K3 AKT1
7 12.58 TEK RASA1 RAP1A MAP3K3 FLT4 AKT1
8
Show member pathways
12.48 TEK RASA1 PIK3CA F2 AKT1
9
Show member pathways
12.32 TEK RASA1 RAP1A PIK3CA FLT4
10
Show member pathways
12.32 RASA1 PIK3CA MAP3K3 AKT1
11
Show member pathways
12.28 RASA1 RAP1A PIK3CA MAP3K3 AKT1
12 12.26 SST RAP1A PIK3CA AKT1
13
Show member pathways
12.1 RASA1 PIK3CA MAP3K3 AKT1
14 12.08 RASA1 RAP1A MAP3K3 AKT1
15
Show member pathways
11.94 SYNGAP1 RASA1 RAP1A AGGF1
16
Show member pathways
11.92 TEK SYNGAP1 RASA1 RAP1A PIK3CA KRIT1
17
Show member pathways
11.89 RAP1A PIK3CA GNAQ AKT1
18
Show member pathways
11.82 RAP1A F2 AKT1
19
Show member pathways
11.81 RASA1 RAP1A AKT1
20
Show member pathways
11.73 PIK3CA FLT4 AKT1
21 11.6 PIK3CA GNAQ AKT1
22
Show member pathways
11.59 RASA1 PIK3CA FLT4 AKT1
23 11.51 RASA1 PIK3CA AKT1
24 11.46 RASA1 RAP1A KRIT1
25 11.45 RAP1A PIK3CA GNAQ F2 AKT1
26 11.39 RAP1A PIK3CA GNAQ AKT1
27 11.37 RASA1 PIK3CA AKT1
28 11.28 RASA1 RAP1A PIK3CA
29 11.28 SYNGAP1 RASA1 PIK3CA GNAQ
30 11.12 RAP1A PIK3CA AKT1
31 10.96 TEK PIK3CA AKT1
32 10.91 PIK3CA FLT4 AKT1
33 10.19 TEK RASA1 PIK3CA

GO Terms for Klippel-Trenaunay-Weber Syndrome

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.02 TEK FOXC2 FLT4 F2 CCM2 AKT1
2 negative regulation of apoptotic process GO:0043066 9.96 TEK RASA1 PDCD10 FLT4 AKT1
3 MAPK cascade GO:0000165 9.88 TEK SYNGAP1 RASA1 MAP3K3
4 heart development GO:0007507 9.83 TEK SOX18 FOXC2 CCM2
5 positive regulation of protein phosphorylation GO:0001934 9.8 TEK FLT4 F2 AKT1
6 protein autophosphorylation GO:0046777 9.76 TEK MAP3K3 FLT4 AKT1
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.74 TEK PIK3CA F2
8 positive regulation of endothelial cell proliferation GO:0001938 9.73 TEK FLT4 AKT1 AGGF1
9 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.72 PIK3CA PDCD10 AKT1
10 positive regulation of endothelial cell migration GO:0010595 9.71 TEK FOXC2 FLT4 AKT1
11 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.69 PIK3CA FOXC2 FLT4
12 blood vessel development GO:0001568 9.67 SOX18 MAP3K3 FOXC2 CCM2
13 negative regulation of macroautophagy GO:0016242 9.58 PIK3CA AKT1
14 anoikis GO:0043276 9.54 PIK3CA AKT1
15 lymphangiogenesis GO:0001946 9.5 SOX18 FOXC2 FLT4
16 vasculature development GO:0001944 9.46 SOX18 PIK3CA FLT4 CCM2
17 lymph vessel development GO:0001945 9.43 SOX18 FOXC2 FLT4
18 vasculogenesis GO:0001570 9.35 SOX18 RASA1 GLMN CCM2 AGGF1
19 angiogenesis GO:0001525 9.17 TEK SOX18 PIK3CA PDCD10 KRIT1 FLT4

Sources for Klippel-Trenaunay-Weber Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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