Klippel-Trenaunay-Weber Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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 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:

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: ³⁴ ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly involving limbs

Orphanet: ⁶⁰

Rare eye diseases

Rare circulatory system diseases

Rare bone diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:2926

OMIM ⁵⁸ 149000

KEGG ³⁸ H01788

MeSH ⁴⁵ D007715

NCIt ⁵¹ C84801

SNOMED-CT ⁶⁹ 59078009

ICD10 ³⁴ Q87.2

ICD10 via Orphanet ³⁵ Q87.2

Orphanet ⁶⁰ ORPHA90308

MedGen ⁴³ C0022739

SNOMED-CT via HPO ⁷⁰ 111293003 128045006 128588008 more

UMLS ⁷⁴ C0022739 C2931360

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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

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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:

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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

Sources

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

Sirolimus

Approved, Investigational

Phase 2, Phase 3

53123-88-9

46835353 5284616 6436030

Synonyms:

(-)-rapamycin

(-)-Rapamycin

1fkb

1pbk

23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine

23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine

23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29

3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

53123-88-9

A422989, NSC226080

AC1L1JH9

AC1L7MJ9

AC1L9ZMV

AC-722

Ambotz53123-88-9

Antibiotic AY 22989

AY 22989

AY22989

AY-22989

BIDD:PXR0165

Bio1_000293

Bio1_000782

Bio1_001271

Bio2_000375

Bio2_000855

BiomolKI2_000084

C07909

C51H79NO13

CBiol_002007

CCRIS 9024

CHEBI:100923

CHEBI:9168

CHEMBL413

CID10213190

CID10795871

CID11949238

CID11959112

CID313006

CID478951

CID5040

CID5284616

CID5358081

CID5374464

CID5460439

CID5497196

CID5924240

CID6436030

CID6610270

CID6610346

CID6711160

CID6713081

CID9833581

CID9854379

CID9854380

CID9962926

CID9962928

D00753

DB00877

DE-109

DivK1c_006936

FT-0082351

heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy

HMS2089A21

HSDB 7284

KBio1_001880

KBio2_000410

KBio2_002978

KBio2_005546

KBio3_000779

KBio3_000780

KBioGR_000410

KBioSS_000410

LCP-Siro

LMPK06000003

LS-143290

MLS000028373

MolMap_000043

MolPort-003-959-433

MS-R001

NCGC00021305-05

nchembio.100-comp4

nchembio.2007.42-comp2

nchembio.79-comp1

nchembio762-comp1

nchembio883-comp3

NCI60_001851

NCIMech_000355

NSC 226080

NSC226080

Perceiva

QTL1_000069

R0395_SIAL

R0395_SIGMA

RAP

RAPA

Rapammune

Rapamune

Rapamune (TN)

rapamycin

Rapamycin

Rapamycin (TN)

Rapamycin C-7, analog 4

Rapamycin from Streptomyces hygroscopicus

Rapamycin Immunosuppressant Drug

RPM

S1039_Selleck

SIIA 9268A

SILA 9268A

SILA9268A

sirolimus

Sirolimus

Sirolimús

Sirolimus (RAPAMUNE)

Sirolimus (USAN/INN)

Sirolimus [USAN:BAN:INN]

Sirolimus, Rapamune,Rapamycin

Sirolimusum

SMP1_000255

SMR000058564

SpecPlus_000840

UNII-W36ZG6FT64

UNM-0000358684

Wy 090217

WY-090217

Everolimus

Approved

Phase 2, Phase 3

159351-69-6

70789204 6442177

Synonyms:

(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone

(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone

(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

001, RAD

07741_FLUKA

159351-69-6

40-O-(2-hydroxyethyl)-rapamycin

40-O-(2-Hydroxyethyl)-rapamycin

42-O-(2-Hydroxyethyl)rapamycin

Afinitor

Certican

CERTICAN(R)

CHEMBL1201755

D02714

DB01590

everolimus

Everolimus

évérolimus

Everolimus (JAN/USAN/INN)

Everolimus [USAN]

LS-143292

MolPort-003-847-342

MolPort-003-925-588

NCGC00167512-01

NVP-RAD-001

RAD 001

RAD, SDZ

RAD001

RAD-001

RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus

RAD-001C

S1120_Selleck

SDZ RAD

SDZ-RAD

UNII-9HW64Q8G6G

Zortress

Miconazole

Approved, Investigational, Vet_approved

Phase 2, Phase 3

22916-47-8

4189

Synonyms:

(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole

1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole

1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole

1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole

1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole

1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole

1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole

1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole

22832-87-7 (NITRATE)

22916-47-8

75319-47-0

AB00053500

AC1L1HM1

Aflorix(nitrate)

AKOS001574474

Albistat(nitrate)

Andergin(nitrate)

BPBio1_000279

BRD-A82396632-001-03-0

BRD-A82396632-008-02-7

Brentan

BRN 0965511

BSPBio_000253

BSPBio_002033

CCRIS 7924

CHEBI:6923

CHEMBL91

CID4189

Conofite(nitrate)

CPD-4501

D00416

Dactarin

Daktarin IV

DB01110

DivK1c_000156

EINECS 245-324-5

Epi-Monistat(nitrate)

Esteve brand OF miconazole

Femizol-M

Florid(nitrate)

Gyno-Daktar(nitrate)

HMS1568M15

HMS2090B21

I14-14342

IDI1_000156

imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)

Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)

Janssen cilag brand OF miconazole

Janssen-cilag brand OF miconazole

Johnston and johnston brand OF miconazole nitrate

KBio1_000156

KBio2_001445

KBio2_004013

KBio2_006581

KBio3_001533

KBioGR_000581

KBioSS_001445

Lotrimin AF(nitrate)

LS-78378

MCZ

Micantin (nitrate)

Miconasil nitrate

Miconasil Nitrate

Miconazol

Miconazol [INN-Spanish]

miconazole

Miconazole

Miconazole (JP15/USP/INN)

Miconazole [USAN:BAN:INN:JAN]

Miconazole 3

Miconazole 3 Combination Pack

Miconazole 7 Combination Pack

Miconazole esteve brand

Miconazole janssen-cilag brand

Miconazole nitrate

Miconazole nitrate salt

Miconazole-7

Miconazolo

Miconazolo [DCIT]

Miconazolum

Miconazolum [INN-Latin]

Micozole

Minostate

MJR 1762

MLS002222203

MolPort-002-557-553

Monazole 7

Monista (nitrate)

Monistat

Monistat (TN)

Monistat 1 Combination Pack

Monistat 3 Dual-Pak

Monistat 3 Vaginal Ovules

Monistat 5 Tampon

Monistat 7 Dual-Pak

Monistat 7 Vaginal Suppositories

Monistat Dual- PAK

Monistat IV

Monistat iv (TN)

Monistat-Derm

NCI60_001353

NCI60_001380

NINDS_000156

Nitrate, miconasil

Nitrate, miconazole

Novo-Miconazole Vaginal Ovules

NSC 170986

NSC169434

NSC170986

Oprea1_091955

Prestwick_335

Prestwick0_000067

Prestwick1_000067

Prestwick2_000067

Prestwick3_000067

R 18134

R-14,889

SMR001307249

SPBio_000976

SPBio_002174

Spectrum_000965

Spectrum2_001048

Spectrum3_000507

Spectrum4_000061

Spectrum5_001297

STK834405

STOCK1S-93556

UNII-7NNO0D7S5M

Vusion

Zimycan

Tranexamic Acid

Approved

Phase 3

1197-18-8

5526

Synonyms:

08455_FLUKA

1197-17-7

1197-18-8

1ceb

3-14-00-00868 (Beilstein Handbook Reference)

4-(aminomethyl)cyclohexane-1-carboxylic acid

4-(Aminomethyl)cyclohexanecarboxylic acid

4-(Aminomethyl)-Cyclohexanecarboxylic Acid

857653_ALDRICH

A0236

AB00052260

AB1003647

AC1L1KJH

AC1Q50F3

AC1Q546D

AC1Q5U04

AC-4687

Acide tranexamique

Acide tranéxamique

Acide tranexamique [INN-French]

acido Tranexamico

Acido tranexamico

ácido tranexámico

Acido tranexamico [INN-Spanish]

Acidum tranexamicum

Acidum tranexamicum [INN-Latin]

ALBB-006013

AMCA

AMCHA

AMH

Amikapron

Amstat

Anvitoff

AR-1F6595

BAY 3517

BPBio1_000069

BRN 2207452

BSPBio_000061

BSPBio_002837

Carxamin

CAS-1197-18-8

CHEBI:48669

CHEMBL292500

CHEMBL877

CID5526

cis-4-(Aminomethyl)cyclohexanecarboxylic acid

cis-4-Aminomethylcyclohexane-1-carboxylic acid

cis-AMCHA

CL 65336

CL-65336

Cyclocapron

Cyklokapron

Cyklokapron (TN)

D01136

DB00302

DivK1c_000655

DV 79

DV79

DV-79

EINECS 214-818-2

Emorhalt

Exacyl

Frenolyse

Hexapromin

Hexatron

HMS1568D03

HMS1921F08

HMS2092P03

HMS502A17

I04-0993

IDI1_000655

KABI 2161

KBio1_000655

KBio2_001871

KBio2_004439

KBio2_007007

KBio3_002337

KBioGR_000511

KBioSS_001871

LS-56611

LS-56612

LT00159441

Mastop

MolPort-001-792-390

MolPort-002-512-008

NCGC00016569-01

NCGC00016569-02

NCGC00016569-03

NCGC00094944-01

NCGC00094944-02

NINDS_000655

NSC 291305

NSC291305

Oprea1_786414

Prestwick_476

Prestwick0_000171

Prestwick1_000171

Prestwick2_000171

Prestwick3_000171

Rikavarin

Rikavarin (TN)

Rikavarin-S

RP 18,429

SPBio_000689

SPBio_001982

Spectrum_001391

SPECTRUM1502026

Spectrum2_000655

Spectrum3_001189

Spectrum4_000046

Spectrum5_001258

Spiramin

STK503668

STOCK1N-16183

t-AMCHA

Tamcha

Tranex

Tranexamate

tranexamic acid

Tranexamic acid

Tranexamic acid (JP15/USAN/INN)

Tranexamic acid [USAN:INN:BAN:JAN]

Tranexamic acid cis-form

Tranexamsaeure

Tranexan

Tranexmate

tranexmic acid

Tranexmic acid

Tranhexamate

Tranhexamic acid

trans AMCHA

Trans AMCHA

Trans-1-(Aminomethyl)cyclohexane-4-carboxylic acid

trans-1-Aminomethylcyclohexane-4-carboxylic acid

Trans-4-(Aminomethyl)-1-cyclohexanecarboxylic acid

trans-4-(Aminomethyl)cyclohexane-1-carboxylic acid

trans-4-(Aminomethyl)cyclohexanecarboxylate

trans-4-(Aminomethyl)cyclohexanecarboxylic acid

trans-4-(Aminomethyl)cyclohexane-carboxylic acid

trans-4-(Aminomethyl)cyclohexanecarboxylic acid ester

trans-4-AMINOMETHYLCYCLOHEXANE-1-carboxylate

trans-4-aminomethylcyclohexane-1-carboxylic acid

trans-4-Aminomethylcyclohexane-1-carboxylic acid

trans-4-AMINOMETHYLCYCLOHEXANE-1-carboxylIC ACID

trans-Amcha

Transamin

Transamin (TN)

Transamlon

Trans-p-(Aminomethyl)cyclohexanecarboxylic

trans-p-(Aminomethyl)cyclohexanecarboxylic acid

trans-Tranexamate

trans-Tranexamic acid

Trasamlon

Ugurol

UNII-6T84R30KC1

WLN: L6TJ AVQ D1Z -T

Immunologic Factors

Phase 2, Phase 3

Antibiotics, Antitubercular

Phase 2, Phase 3

Anti-Bacterial Agents

Phase 2, Phase 3

Pharmaceutical Solutions

Phase 2, Phase 3,Phase 1

Immunosuppressive Agents

Phase 2, Phase 3

Antifungal Agents

Phase 2, Phase 3

Anti-Infective Agents

Phase 2, Phase 3

Antifibrinolytic Agents

Phase 3

Coagulants

Phase 3

Hemostatics

Phase 3

Anticonvulsants

Phase 1, Phase 2

Epidiolex

Phase 1, Phase 2

Angiogenesis Inhibitors

Phase 2

Angiogenesis Modulating Agents

Phase 2

Timolol

Approved

Phase 1

26839-75-8

5478 33624

Synonyms:

(-)-3-Morpholino-4-(3-tert-butylamino-2-hydroxypropoxy)-1,2,5-thiadiazole

(2S)-1-((1,1-dimethylethyl)amino)-3-((4-(4-morpholinyl)-1,2,5-thiadiazol-3-yl)oxy)-2-propanol

(2S)-1-(tert-butylamino)-3-[(4-morpholin-4-yl-1,2,5-thiadiazol-3-yl)oxy]propan-2-ol

(2S)-1-[(1,1-dimethylethyl)amino]-3-[(4-morpholin-4-yl-1,2,5-thiadiazol-3-yl)oxy]propan-2-ol

(S)-1-(1,1-(Dimethylethyl)amino)-3-((4-(4-morpholinyl)-1,2,5-thiadiazol-3-yl)oxy)-2-propanol

(S)-1-(tert-Butylamino)-3-((4-morpholino-1,2,5-thiadiazol-3-yl)oxy)propan-2-ol

(S)-1-(tert-butylamino)-3-[(4-morpholin-4-yl-1,2,5-thiadiazol-3-yl)oxy]propan-2-ol

(S)-timolol

131628-37-0

194288-09-0

26839-75-8

26921-17-5 (maleate (1:1) salt)

AB00513729

AC1L1PYN

AC1Q59QM

Apo-Timol

Apo-Timop

Aquanil

Betim

Betimol

Betimol (TN)

BIDD:GT0073

Blocadren

BPBio1_001008

BRD-K08806317-050-03-6

BSPBio_000916

C07141

C13H24N4O3S

CAS-26921-17-5

CHEBI:9599

CHEMBL499

CID33624

CPD001456519

D08600

DB00373

DB08625

EINECS 248-032-6

HMS2089I11

HSDB 6533

Istalol

L-714,465

Lopac0_001189

Lopac-T-6394

LS-122231

MK-950

NCGC00016038-01

NCGC00016038-02

NCGC00016798-01

NCGC00016798-07

NCGC00022033-02

NCGC00022033-04

NCGC00022033-05

Novo-Timol

Nu-Timolol

Oprea1_640981

Optimol

Phoxal-timolol

Prestwick0_000948

Prestwick1_000948

Prestwick2_000948

Prestwick3_000948

Proflax

S-(-)-3-(3-tert-Butylamino-2-hydroxypropoxy)-4-morpholino-1,2,5-thiadiazole

S(-)-Timolol maleate

SAM002564238

SPBio_003075

ST072193

Temserin

Tenopt

TIM

Timacar

Timacor

Tim-AK

timolol

Timolol

Timolol (INN)

Timolol (TN)

Timolol [USAN]

Timolol anhydrous

Timolol GFS

Timolol maleate

Timolol Maleate, (1:1) Salt

Timololo

Timololum

Timololum [INN-Latin]

Timopic

Timoptic

Timoptic in Ocudose

Timoptic OcuDose

Timoptic-XE

Timoptol

Tocris-0649

UNII-817W3C6175

Maleic acid

Experimental, Investigational

Phase 1

110-17-8, 110-16-7

444972

Synonyms:

(2E)-2-Butenedioate

(2E)-2-butenedioic acid

(2E)-2-Butenedioic acid

(2E)-But-2-enedioate

(2E)-but-2-enedioic acid

(2E)-But-2-enedioic acid

(e)-2-Butenedioate

(e)-2-Butenedioic acid

(E)-2-butenedioic acid

(E)-2-Butenedioic acid

(E)-but-2-enedioic acid

03761_FLUKA

1,2-Ethylenedicarboxylic acid, (E)

110-17-8

2-(e)-Butenedioate

2-(e)-Butenedioic acid

2-(E)-Butenedioic acid

240745_ALDRICH

240745_SIAL

26B3632D-E93F-4655-90B0-3C17855294BA

2-Butenedioic acid

2-Butenedioic acid (2E)- (9CI)

4-02-00-02202 (Beilstein Handbook Reference)

623158-97-4

AB1002616

AC1L9H76

AC1Q5T7Y

AC1Q71EM

Acidum fumaricum

AI3-24236

AKOS000118896

Allomaleate

Allomaleic acid

Allomalenic acid

ammonium fumarate

Ammonium fumarate

AR-1D9767

bmse000083

Boletate

Boletic acid

BRN 0605763

But-2-enedioic acid

Butenedioic acid

C00122

C4H4O4

Caswell No. 465E

CCRIS 1039

CHEBI:18012

CHEBI:22958

CHEMBL503160

CID444972

D02308

DB04299

e297

E-2-Butenedioic acid

EINECS 203-743-0

EPA Pesticide Chemical Code 051201

F0067

F8509_SIGMA

FC 33

FC 33 (acid)

FEMA No. 2488

FEMA Number 2488

fum

fumarate

Fumarate

fumarate, 10

fumaric acid

Fumaric acid (8CI)

Fumaric acid (NF)

Fumaricum acidum

Fumarsaeure

Fumarsäure

Furamag

HSDB 710

I04-1070

Kyselina fumarova

Kyselina fumarova [Czech]

Lichenate

Lichenic acid

Lichenic acid (VAN)

LMFA01170106

LS-500

Magnesium fumarate

MLS002454406

MolPort-001-780-031

MolPort-004-288-293

NCGC00091192-01

nchembio.186-comp71

nchembio.2007.47-comp1

NSC2752

NSC-2752

OR17920

S04-0167

SMR000112117

Sodium fumarate

trans-1,2-Ethylenedicarboxylate

trans-1,2-ethylenedicarboxylic acid

trans-1,2-Ethylenedicarboxylic acid

trans-2-Butenedioate

trans-2-Butenedioic acid

trans-But-2-enedioate

trans-but-2-enedioic acid

trans-But-2-enedioic acid

trans-Butenedioate

trans-Butenedioic acid

Tumaric acid

U-1149

UNII-88XHZ13131

USAF EK-P-583

W248800_ALDRICH

WLN: QV1U1VQ-T

Neurotransmitter Agents

Phase 1

Lubricant Eye Drops

Phase 1

Adrenergic Agents

Phase 1

Adrenergic Antagonists

Phase 1

Antihypertensive Agents

Phase 1

Anti-Arrhythmia Agents

Phase 1

Ophthalmic Solutions

Phase 1

Adrenergic beta-Antagonists

Phase 1

Immunoglobulins

Antibodies

GTPase-Activating Proteins

Not Applicable

Endothelial Growth Factors

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

Sources

Genetic Tests for Klippel-Trenaunay-Weber Syndrome

Genetic tests related to Klippel-Trenaunay-Weber Syndrome:

#	Genetic test	Affiliating Genes
1	Klippel Trenaunay Syndrome ³⁰

Sources

Anatomical Context for Klippel-Trenaunay-Weber Syndrome

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

⁴²

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

Sources

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 )	Opdenakker O...Walle JV	2019
2	Klippel-Trenaunay-Weber Syndrome with Atypical Presentation of Cerebral Cavernous Angioma: A Case Report and Literature Review. ( 30905648 )	Karadag A...Middlebrooks EH	2019
3	Lymphaticovenular anastomosis for Klippel-Trenaunay-Weber syndrome. ( 31015075 )	Onoda S...Komagoe S	2019
4	An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report. ( 30954069 )	Al-Najjar RM...Fonseca R	2019
5	Septic superficial thrombophlebitis in Klippel-Trenaunay syndrome. ( 30388396 )	Galyfos G...Maltezos C	2019
6	Marked acanthocytosis in the setting of Klippel-Trenaunay syndrome: A case report. ( 30113765 )	Cruz H...Freitas MI	2019
7	Anesthetic challenges in a case of Klippel-Trenaunay Syndrome with severe anaemia. ( 30290279 )	Adabala V...Govil N	2019
8	Klippel-Trénaunay syndrome: Cutaneous manifestations. ( 30316527 )	Rodr?guez-Villa Lario A...Trasobares-Marug?n L	2019
9	Kyphoscoliosis with Klippel-Trenaunay syndrome: a case report and literature review. ( 30611239 )	Zhai J...Li Z	2019
10	Total Knee Arthroplasty Is Safe and Successful in Patients With Klippel-Trénaunay Syndrome. ( 30665834 )	Labott JR...Sierra RJ	2019
11	Chronic lower extremity wounds in a patient with Klippel Trenaunay syndrome. ( 30734008 )	Shahbahrami K...Cavallo G	2019
12	Venous thromboembolic and bleeding complications among pregnant women with Klippel-Trenaunay syndrome. ( 30991120 )	Marvin EK...Tollefson MM	2019
13	Cancer Risk in Klippel-Trenaunay Syndrome. ( 31045469 )	Blatt J...Adams DM	2019
14	Soft tissue angiosarcoma of the breast in a patient with Klippel-Trenaunay-Weber syndrome. ( 30361716 )	Bugarin-Estrada E...Medina-Franco H	2018
15	Klippel-Trenaunay-Weber syndrome as a cause of chronic thromboembolic pulmonary hypertension. ( 29572375 )	Chenbhanich J...Phowthongkum P	2018
16	Fibrous dysplasia and Klippel-Trenaunay syndrome: a rare association. ( 30109016 )	Nishimoto S...Ikemura K	2018
17	Large frontal osseous hemangioma with dural sinus involvement in a patient with Klippel-Trenaunay syndrome: A rare case report. ( 30386675 )	Yousif S...Pattavilakom A	2018
18	Spinal Cavernous Angioma Associated with Klippel-Trenaunay-Weber Syndrome: Case Report and Literature Review. ( 29054771 )	Oda K...Morita A	2018
19	Management of Pregnancy with Klippel-Trenaunay-Weber Syndrome: A Case Report and Review. ( 30112237 )	Chadha R	2018
20	Lymphangioma Circumscriptum in Vulva with Klippel-Trenaunay Syndrome. ( 29451158 )	Liu XY...Zhang JZ	2018
21	Combined capillary-venous-lymphatic malformations without overgrowth in patients with Klippel-Trénaunay syndrome. ( 29233587 )	Brandigi E...L?pez Guti?rrez JC	2018
22	CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH KLIPPEL-TRENAUNAY SYNDROME. ( 28937525 )	Shields CL...Shields JA	2018
23	Cerebral and spinal cavernomas associated with Klippel-Trenaunay syndrome: case report and literature review. ( 29197023 )	Yoshinaga T...Inoue T	2018
24	Medical treatment of a female patient with complicated Klippel-Trenaunay syndrome. ( 29241638 )	Huang FL...Chang TK	2018
25	Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report. ( 29452831 )	Lei H...Tian L	2018
26	An Inferior Vena Cava Aneurysm in a Patient with Klippel-Trenaunay Syndrome. ( 29518509 )	Machin M...Davies AH	2018
27	Management of giant embryonic vein in Klippel-Trénaunay syndrome. ( 29773423 )	Rathore A...Bjarnason H	2018
28	High levels of serum sclerostin and DKK1 in a case of Klippel-Trénaunay syndrome. ( 29774401 )	Muto P...Atteritano M	2018
29	Pain, psychiatric comorbidities, and psychosocial stressors associated with Klippel-Trenaunay syndrome. ( 29883592 )	Harvey JA...Tollefson MM	2018
30	Gastrointestinal tract involvement in Klippel-Trénaunay syndrome. ( 29893236 )	Sepulveda A...Espino A	2018
31	Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome. ( 29909856 )	Reis J...Chaudry G	2018
32	Klippel-Trenaunay Syndrome: A Dramatic Presentation. ( 30017506 )	Berchiolli R...Marconi M	2018
33	Successful use of spinal anesthesia for an urgent cesarean section in a parturient with a severe Klippel-Trénaunay syndrome. ( 30301321 )	Gonnella GL...Draisci G	2018
34	Radiological Aspect of Klippel-Trénaunay Syndrome: A Case Series With Review of Literature. ( 30341531 )	Alwalid O...Liang HM	2018
35	Abnormal Uterine Bleeding in a Patient with Klippel-Trenaunay Syndrome. ( 30472303 )	Milman T...Papillon-Smith J	2018
36	Superficial Femoral Venous Aneurysm in a Patient with Klippel-Trenaunay Syndrome: The Femoral Hernia Mimic. ( 30500630 )	Sivakumaran Y...Vasudevan TM	2018
37	Klippel-Trenaunay Syndrome, a Rare Cause of Hematochezia. ( 30627267 )	Then EO...Gaduputi V	2018
38	Posterior cerebral artery giant aneurysm associated with bilateral internal carotid artery occlusion in a Klippel-Trenaunay syndrome patient: a case report. ( 29069941 )	Fukaya R...Fujii K	2017
39	Growing skull hemangioma: first and unique description in a patient with Klippel-Trénaunay-Weber syndrome. ( 27822901 )	van der Loo LE...Schijns OE	2017
40	Klippel-Trenaunay-Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report. ( 28823249 )	Kundzina L...Lejniece S	2017
41	A case of an inverse Klippel-Trenaunay Syndrome. ( 29050451 )	Topalo?lu Demir F...Esen Salman K	2017
42	Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect. ( 28782176 )	Sakaguchi Y...Kosaki K	2017
43	Multimodal Imaging in Klippel-Trénaunay-Weber Syndrome: Clinical Photography, Computed Tomoangiography, Infrared Thermography, and 99mTc-Phytate Lymphoscintigraphy. ( 29036002 )	Kim SW...Song H	2017
44	Complicated Total Knee Arthroplasty in a Patient with Klippel-Trenaunay-Weber Syndrome: A Case Report. ( 29244707 )	Joseph EG...Dietz MJ	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 )	Namiki T...Yokozeki H	2017
46	A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma. ( 28724825 )	Pillai MR...Krishnadas SR	2017
47	Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome. ( 27901321 )	Dimopoulos A...Mills JL	2017
48	Thoracic Manifestations of Klippel-Trenaunay Syndrome. ( 28266961 )	Hammer MM...Miller WT	2017
49	Complications of pregnancy and labour in women with Klippel-Trénaunay syndrome: a nationwide cross-sectional study. ( 28432715 )	Horbach SE...van der Horst CM	2017
50	A rare presentation of Klippel-Trenaunay syndrome with bilateral lower limbs. ( 28458832 )	Baba A...Mogami T	2017

Sources

Genes for Klippel-Trenaunay-Weber Syndrome

Genes related to Klippel-Trenaunay-Weber Syndrome (2 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AGGF1	Angiogenic Factor With G-Patch And FHA Domains 1	Protein Coding	354.52	Causative variation ⁷⁶ Susceptibility factor ⁶⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	14961121 15905966 16443853 (more) 19556247
2	KTWS	Klippel-Trenaunay-Weber Syndrome	Genetic Locus	58.95	Genetic linkage ⁵⁸ GeneCards inferred via : Gene name (show sections)
3	GLMN	Glomulin, FKBP Associated Protein	Protein Coding	25.54	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	16379592
4	SOX18	SRY-Box 18	Protein Coding	24.07	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	16379592
5	PDCD10	Programmed Cell Death 10	Protein Coding	23.95	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	16379592
6	CCM2	CCM2 Scaffold Protein	Protein Coding	23.59	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	16379592
7	FOXC2	Forkhead Box C2	Protein Coding	22.55	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	16379592
8	FLT4	Fms Related Tyrosine Kinase 4	Protein Coding	19.65	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	16379592
9	KRIT1	KRIT1 Ankyrin Repeat Containing	Protein Coding	19.23	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	16379592
10	SST	Somatostatin	Protein Coding	17.72	GeneCards inferred via : Publications (show sections)
11	RASA1	RAS P21 Protein Activator 1	Protein Coding	16.79	DISEASES inferred ¹⁵
12	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	16.26	DISEASES inferred ¹⁵

Sources

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

Sources

Expression for Klippel-Trenaunay-Weber Syndrome

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

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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	Ras signaling pathway ³⁸ Show member pathways Rap1 signaling pathway ³⁸	11.9	FLT4 KRIT1 RASA1 SYNGAP1
2	Oncogenic MAPK signaling ⁶⁷ Show member pathways Signaling by BRAF and RAF fusions ⁶⁷	10.93	AGGF1 RASA1 SYNGAP1
3	G-protein signaling_Rap1A regulation pathway ²³	10.85	KRIT1 RASA1

Sources

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

Sources for Klippel-Trenaunay-Weber Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Klippel-Trenaunay-Weber Syndrome (KTS)

Aliases & Classifications for Klippel-Trenaunay-Weber Syndrome

MalaCards integrated aliases for Klippel-Trenaunay-Weber Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Klippel-Trenaunay-Weber Syndrome

Related Diseases for Klippel-Trenaunay-Weber Syndrome

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

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

Symptoms & Phenotypes for Klippel-Trenaunay-Weber Syndrome

Human phenotypes related to Klippel-Trenaunay-Weber Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics for Klippel-Trenaunay-Weber Syndrome

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

Interventional clinical trials:

Cochrane evidence based reviews: klippel-trenaunay-weber syndrome

Genetic Tests for Klippel-Trenaunay-Weber Syndrome

Genetic tests related to Klippel-Trenaunay-Weber Syndrome:

Anatomical Context for Klippel-Trenaunay-Weber Syndrome

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

Publications for Klippel-Trenaunay-Weber Syndrome

Articles related to Klippel-Trenaunay-Weber Syndrome:

Genes for Klippel-Trenaunay-Weber Syndrome

Genes related to Klippel-Trenaunay-Weber Syndrome (2 elite genes):

Variations for Klippel-Trenaunay-Weber Syndrome

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

Expression for Klippel-Trenaunay-Weber Syndrome

Pathways for Klippel-Trenaunay-Weber Syndrome

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

GO Terms for Klippel-Trenaunay-Weber Syndrome

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

Sources for Klippel-Trenaunay-Weber Syndrome