KTS
MCID: KLP010
MIFTS: 54

Klippel-Trenaunay-Weber Syndrome (KTS) malady

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

Aliases & Classifications for Klippel-Trenaunay-Weber Syndrome

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Aliases & Descriptions for Klippel-Trenaunay-Weber Syndrome:

Name: Klippel-Trenaunay-Weber Syndrome 52 11 48 24 12 39
Klippel-Trenaunay Syndrome 11 48 25 49 70 50 13
Kts 48 24 25 70
Angio-Osteohypertrophy Syndrome 48 25
Klippel-Trénaunay Syndrome 54 27
Ktw Syndrome 48 24
Klippel-Trénaunay-Weber Syndrome 48
 
Congenital Dysplastic Angiopathy 25
Angioosteohypertrophy Syndrome 11
Haemangiectatic Hypertrophy 11
Klippel Trenaunay Syndrome 48
Klippel-Trenaunay Disease 25
Weber-Klippel-Trenaunay 48
Weber Klippel Trenaunay 68

Characteristics:

Orphanet epidemiological data:

54
klippel-trénaunay syndrome:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (United States),<1/1000000 (Europe); Age of onset: Infancy,Neonatal

HPO:

64
klippel-trenaunay-weber syndrome:
Inheritance: sporadic

Classifications:



External Ids:

OMIM52 149000
Disease Ontology11 DOID:2926
ICD1030 Q87.2
MeSH39 D007715
SNOMED-CT62 59078009
NCIt45 C84801
Orphanet54 ORPHA90308
ICD10 via Orphanet31 Q87.2
MedGen37 C0022739

Summaries for Klippel-Trenaunay-Weber Syndrome

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NINDS:49 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 inverse klippel-trénaunay syndrome and hemihyperplasia, isolated, and has symptoms including Array, Array and Array. 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 is G-protein signaling_Rap1A regulation pathway. Affiliated tissues include bone, skin and heart, and related mouse phenotypes are digestive/alimentary and muscle.

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

Genetics Home Reference:25 Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.

NIH Rare Diseases:48 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 limited to 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. last updated: 11/14/2016

UniProtKB/Swiss-Prot:70 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.

Description from OMIM:52 149000

Related Diseases for Klippel-Trenaunay-Weber Syndrome

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

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1inverse klippel-trénaunay syndrome12.1
2hemihyperplasia, isolated11.4
3angioosteohypertrophic syndrome11.3
4weber syndrome11.0
5skin creases, congenital symmetric circumferential, 110.8
6hemimegalencephaly10.4
7hemangioma10.4
8cerebritis10.3
9lymphangioma10.3
10pulmonary embolism10.3
11hydronephrosis10.2
12arteriovenous malformation10.2
13hemihypertrophy10.2
14angiomatosis10.2
15myasthenic syndrome, congenital, 15, without tubular aggregates10.1GLMN, KRIT1
16hypomelanosis of ito10.1FLT4, GLMN
17pilomyxoid astrocytoma10.1FLT4, GLMN
18bacteremia10.0
19lipoma10.0
20arteriovenous fistula10.0
21sacrococcygeal teratoma10.0
22osteoblastoma10.0
23scoliosis10.0
24thrombosis10.0
25disseminated intravascular coagulation10.0
26nephrotic syndrome10.0
27urethritis10.0
28vaginitis10.0
29cervicitis10.0
30glioblastoma multiforme10.0
31teratoma10.0
32retinitis10.0
33vaginal discharge10.0
34pyoderma10.0
35melorheostosis10.0
36paraplegia10.0
37intestinal obstruction10.0
38pyoderma gangrenosum10.0
39duodenitis10.0
40vesicoureteral reflux10.0
41congenital nystagmus10.0
42cavernous lymphangioma10.0
43glioblastoma10.0
44aneurysm10.0
45cavernous malformation10.0
46coronary artery dissection, spontaneous10.0FOXC2, SOX18, SST
47bartholin's gland transitional cell carcinoma10.0FOXC2, SOX18
48congenital generalized lipodystrophy10.0FLT4, FOXC2
49chondrodysplasia punctata 1, x-linked10.0CCM2, KRIT1, PDCD10
50retinitis pigmentosa 689.9CCM2, KRIT1, PDCD10

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

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Symptoms by clinical synopsis from OMIM:

149000

Clinical features from OMIM:

149000

Human phenotypes related to Klippel-Trenaunay-Weber Syndrome:

 54 64 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature64 54 Frequent (79-30%) HP:0000098
2 abnormality of the menstrual cycle64 54 Occasional (29-5%) HP:0000140
3 microcephaly64 54 Occasional (29-5%) HP:0000252
4 macrocephaly64 54 Occasional (29-5%) HP:0000256
5 hematuria64 54 Occasional (29-5%) HP:0000790
6 abnormality of the skull54 Occasional (29-5%)
7 edema54 Occasional (29-5%)
8 hemangioma64 54 Very frequent (99-80%) HP:0001028
9 intellectual disability64 54 Occasional (29-5%) HP:0001249
10 ascites64 54 Occasional (29-5%) HP:0001541
11 atria septal defect54 Occasional (29-5%)
12 congestive heart failure64 54 Occasional (29-5%) HP:0001635
13 patent ductus arteriosus64 54 Occasional (29-5%) HP:0001643
14 abnormality of the tricuspid valve64 54 Occasional (29-5%) HP:0001702
15 hydrops fetalis64 54 Occasional (29-5%) HP:0001789
16 microcytic anemia64 54 Occasional (29-5%) HP:0001935
17 respiratory insufficiency64 54 Occasional (29-5%) HP:0002093
18 pulmonary embolism64 54 Frequent (79-30%) HP:0002204
19 gastrointestinal hemorrhage64 54 Frequent (79-30%) HP:0002239
20 hepatomegaly64 54 Occasional (29-5%) HP:0002240
21 prolonged bleeding time64 54 Occasional (29-5%) HP:0003010
22 abnormality of the pulmonary artery64 54 Occasional (29-5%) HP:0004414
23 venous thrombosis64 54 Frequent (79-30%) HP:0004936
24 venous insufficiency64 54 Very frequent (99-80%) HP:0005293
25 internal hemorrhage54 Occasional (29-5%)
26 abnormality of skeletal morphology54 Very frequent (99-80%)
27 lower limb asymmetry64 54 Very frequent (99-80%) HP:0100559
28 upper limb asymmetry64 54 Very frequent (99-80%) HP:0100560
29 cellulitis64 54 Frequent (79-30%) HP:0100658
30 hypercoagulability64 54 Occasional (29-5%) HP:0100724
31 peripheral arteriovenous fistula64 54 Occasional (29-5%) HP:0100784
32 glaucoma64 HP:0000501
33 lymphedema64 HP:0001004
34 syndactyly64 HP:0001159
35 hand polydactyly64 HP:0001161
36 hand oligodactyly64 HP:0001180
37 seizures64 HP:0001250
38 hemihypertrophy64 HP:0001528
39 abnormality of blood and blood-forming tissues64 HP:0001871
40 macrodactyly64 HP:0004099
41 arteriovenous fistula64 HP:0004947
42 hyperpigmented nevi and streak64 HP:0005606
43 lymphangioma64 HP:0100764
44 atrial septal defect64 HP:0001631

MGI Mouse Phenotypes related to Klippel-Trenaunay-Weber Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6FLT4, FOXC2, RASA1, SOX18, SST
2MP:00053698.1CCM2, FLT4, FOXC2, KRIT1, PDCD10, RASA1
3MP:00053877.8CCM2, FLT4, FOXC2, PDCD10, RASA1, SOX18
4MP:00028737.7CCM2, FLT4, FOXC2, PDCD10, SOX18, SST
5MP:00053807.5AGGF1, CCM2, FLT4, FOXC2, GLMN, KRIT1
6MP:00036317.5AGGF1, CCM2, FOXC2, GLMN, KRIT1, PDCD10
7MP:00053857.2AGGF1, CCM2, FLT4, FOXC2, GLMN, KRIT1
8MP:00053786.9CCM2, FLT4, FOXC2, GLMN, KRIT1, PDCD10
9MP:00107686.6AGGF1, CCM2, FLT4, FOXC2, GLMN, KRIT1

Drugs & Therapeutics for Klippel-Trenaunay-Weber Syndrome

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

(show all 30)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EverolimusapprovedPhase 2, Phase 31940159351-69-66442177
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-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
(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
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
2
Tranexamic AcidapprovedPhase 32771197-18-85526
Synonyms:
08455_FLUKA
1197-17-7
1197-18-8
1ceb
3-14-00-00868 (Beilstein Handbook Reference)
4-(Aminomethyl)-Cyclohexanecarboxylic Acid
4-(Aminomethyl)cyclohexanecarboxylic acid
4-(aminomethyl)cyclohexane-1-carboxylic acid
857653_ALDRICH
A0236
AB00052260
AB1003647
AC-4687
AC1L1KJH
AC1Q50F3
AC1Q546D
AC1Q5U04
ALBB-006013
AMCA
AMCHA
AMH
AR-1F6595
Acide tranexamique
Acide tranexamique [INN-French]
Acido tranexamico
Acido tranexamico [INN-Spanish]
Acidum tranexamicum
Acidum tranexamicum [INN-Latin]
Amikapron
Amstat
Anvitoff
BAY 3517
BPBio1_000069
BRN 2207452
BSPBio_000061
BSPBio_002837
CAS-1197-18-8
CHEBI:48669
CHEMBL292500
CHEMBL877
CID5526
CL 65336
CL-65336
Carxamin
Cyclocapron
Cyklokapron
Cyklokapron (TN)
D01136
DB00302
DV 79
DV-79
DV79
DivK1c_000655
EINECS 214-818-2
Emorhalt
Exacyl
Frenolyse
HMS1568D03
HMS1921F08
HMS2092P03
HMS502A17
Hexapromin
Hexatron
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
Prestwick0_000171
Prestwick1_000171
Prestwick2_000171
Prestwick3_000171
Prestwick_476
RP 18,429
Rikavarin
Rikavarin (TN)
Rikavarin-S
SPBio_000689
SPBio_001982
SPECTRUM1502026
STK503668
STOCK1N-16183
Spectrum2_000655
Spectrum3_001189
Spectrum4_000046
Spectrum5_001258
Spectrum_001391
Spiramin
Tamcha
Tranex
Tranexamate
Tranexamic acid (JP15/USAN/INN)
Tranexamic acid [USAN:INN:BAN:JAN]
Tranexamic acid cis-form
Tranexamsaeure
Tranexan
Tranexmic acid
Tranhexamic acid
Trans AMCHA
Trans-1-(Aminomethyl)cyclohexane-4-carboxylic acid
Trans-4-(Aminomethyl)-1-cyclohexanecarboxylic acid
Trans-p-(Aminomethyl)cyclohexanecarboxylic
Transamin
Transamin (TN)
Transamlon
Trasamlon
UNII-6T84R30KC1
Ugurol
WLN: L6TJ AVQ D1Z -T
cis-4-(Aminomethyl)cyclohexanecarboxylic acid
cis-4-Aminomethylcyclohexane-1-carboxylic acid
cis-AMCHA
t-AMCHA
tranexamic acid
tranexmic acid
trans-1-Aminomethylcyclohexane-4-carboxylic acid
trans-4-(Aminomethyl)cyclohexane-1-carboxylic acid
trans-4-(Aminomethyl)cyclohexane-carboxylic acid
trans-4-(Aminomethyl)cyclohexanecarboxylic acid
trans-4-(Aminomethyl)cyclohexanecarboxylic acid ester
trans-4-Aminomethylcyclohexane-1-carboxylic acid
trans-4-aminomethylcyclohexane-1-carboxylic acid
trans-Amcha
trans-Tranexamic acid
trans-p-(Aminomethyl)cyclohexanecarboxylic acid
3
Miconazoleapproved, investigational, vet_approvedPhase 2, Phase 3370622916-47-84189
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-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]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-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)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-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
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)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
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 iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
4
Sirolimusapproved, investigationalPhase 2, Phase 3194053123-88-95284616, 6436030, 46835353
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
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic 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
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
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
5Immunosuppressive AgentsPhase 2, Phase 313086
6Anti-Infective AgentsPhase 2, Phase 322062
7Antifungal AgentsPhase 2, Phase 33696
8CoagulantsPhase 31500
9Antifibrinolytic AgentsPhase 3484
10HemostaticsPhase 31443
11Anti-Bacterial AgentsPhase 2, Phase 311226
12Antibiotics, AntitubercularPhase 2, Phase 37180
13Pharmaceutical SolutionsPhase 2, Phase 3, Phase 18192
14Angiogenesis Modulating AgentsPhase 24185
15Angiogenesis InhibitorsPhase 24257
16AnticonvulsantsPhase 1, Phase 22695
17
TimololapprovedPhase 125226839-75-833624, 5478
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
BIDD:GT0073
BPBio1_001008
BRD-K08806317-050-03-6
BSPBio_000916
Betim
Betimol
Betimol (TN)
Blocadren
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
LS-122231
Lopac-T-6394
Lopac0_001189
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(-)-Timolol maleate
S-(-)-3-(3-tert-Butylamino-2-hydroxypropoxy)-4-morpholino-1,2,5-thiadiazole
SAM002564238
SPBio_003075
ST072193
TIM
Temserin
Tenopt
Tim-AK
Timacar
Timacor
Timolol
Timolol (INN)
Timolol (TN)
Timolol GFS
Timolol Maleate, (1:1) Salt
Timolol [USAN]
Timolol anhydrous
Timolol maleate
Timololo
Timololum
Timololum [INN-Latin]
Timopic
Timoptic
Timoptic OcuDose
Timoptic in Ocudose
Timoptic-XE
Timoptol
Tocris-0649
UNII-817W3C6175
timolol
18
Maleic acidexperimentalPhase 1296110-16-7444266
Synonyms:
(2Z)-2-Butenedioate
(2Z)-2-Butenedioic acid
(2Z)-Butene-2-dioate
(2Z)-Butene-2-dioic acid
(2Z)-but-2-enedioate
(2Z)-but-2-enedioic acid
(Z)-2-Butenedioate
(Z)-2-Butenedioic acid
(z)-butenedioate
(z)-butenedioic acid
2-Butenedioate
2-Butenedioic acid
Cis-butenedioate
Cis-butenedioic acid
 
H2male
Kyselina maleinova
MAE
Maleate
Maleic acid
Maleic acid [NA2215]
Maleinic acid
Malenic acid
Malezid CM
Scotchbond multipurpose etchant
Toxilic acid
cis-1,2-Ethylenedicarboxylic acid
cis-2-Butenedioate
cis-2-Butenedioic acid
cis-But-2-enedioate
cis-But-2-enedioic acid
19Ophthalmic SolutionsPhase 11140
20TetrahydrozolinePhase 1621
21Adrenergic AgentsPhase 15352
22Adrenergic beta-AntagonistsPhase 11193
23Neurotransmitter AgentsPhase 118340
24Adrenergic AntagonistsPhase 11573
25Antihypertensive AgentsPhase 14207
26Anti-Arrhythmia AgentsPhase 13093
27Lubricant Eye DropsPhase 1168
28Immunoglobulins6394
29Antibodies6394
30GTPase-Activating Proteins1

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT)CompletedNCT01031992Phase 3
2Trial of Sirolimus for Cognitive Impairment in Sturge-Weber SyndromeRecruitingNCT03047980Phase 2, Phase 3
3Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber SyndromeCompletedNCT02080624Phase 2
4Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber SyndromeActive, not recruitingNCT02332655Phase 1, Phase 2
5Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic TelangiectasiaActive, not recruitingNCT01485224Phase 2
6Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS)WithdrawnNCT01997255Phase 2
7Use of the Atkins Diet for Children With Sturge Weber SyndromeCompletedNCT00639730Phase 1
8Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical TimololRecruitingNCT01533376Phase 1
9Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS)CompletedNCT00610402
10Biomarker Development in Sturge-Weber SyndromeCompletedNCT01345305
11Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial DifferencesCompletedNCT00340964
12Innovative Approaches to Gauge Progression of Sturge-Weber SyndromeRecruitingNCT01425944
13Immunmodulation in Patients With HHTRecruitingNCT02983253
14Symptoms and Treatment Results in Hereditary Hemorrhagic TelangiectasiaRecruitingNCT02690246
15Lymphatic Anomalies RegistryRecruitingNCT02399527
16Institutional Registry of Haemorrhagic Hereditary TelangiectasiaRecruitingNCT01761981
17French National Cohort of Children With Port Wine StainActive, not recruitingNCT01364857

Search NIH Clinical Center for Klippel-Trenaunay-Weber Syndrome


Cochrane evidence based reviews: klippel-trenaunay-weber syndrome

Genetic Tests for Klippel-Trenaunay-Weber Syndrome

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Genetic tests related to Klippel-Trenaunay-Weber Syndrome:

id Genetic test Affiliating Genes
1 Klippel Trenaunay Syndrome27
2 Klippel-Trenaunay-Weber Syndrome24

Anatomical Context for Klippel-Trenaunay-Weber Syndrome

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

36
Bone, Skin, Heart, Spleen, Lung, Liver, Brain

Publications for Klippel-Trenaunay-Weber Syndrome

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Articles related to Klippel-Trenaunay-Weber Syndrome:

(show top 50)    (show all 98)
idTitleAuthorsYear
1
A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics. (27141435)
2016
2
A rare paediatric case of Klippel-Trenaunay-Weber syndrome. (25878760)
2015
3
Combined Transarterial and Transvenous Approach for Curative Obliteration of Klippel-Trenaunay-Weber Syndrome-Associated Spinal Perimedullary Arteriovenous Fistulas. (25008156)
2015
4
THE SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH KLIPPEL-TRENAUNAY-WEBER SYNDROME. (26349197)
2015
5
Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero. (26578498)
2015
6
A case of newly diagnosed klippel trenaunay weber syndrome presenting with nephrotic syndrome. (26000182)
2015
7
Glioblastoma multiforme in Klippel-Trenaunay-Weber syndrome: a case report. (25890301)
2015
8
An unusual presentation of pediatric osteoblastoma in a patient with Klippel-Trenaunay-Weber syndrome: case report. (26030331)
2015
9
Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis. (26615353)
2015
10
Klippel-Trenaunay-Weber syndrome-associated arterial and venous malformations in the lower uterine segment. (25222156)
2014
11
Photoclinic. Co-existence of Abernethy malformation and Klippel-Trenaunay-Weber syndrome. (25065286)
2014
12
Terminal deletion 2q37.3 in a patient with Klippel-Trenaunay-Weber syndrome. (23438794)
2013
13
Sonographic identification of klippel-trenaunay-weber syndrome. (24368952)
2013
14
Neurologic and vascular abnormalities in Klippel-Trenaunay-Weber syndrome. (23090443)
2013
15
Coronary anomalies in Klippel-Trenaunay-Weber syndrome: multidetector computed tomography and cardiac magnetic resonance study of a rare association. (22898712)
2013
16
Thoracic vertebral hemangioma causing paraplegia in Klippel-Trenaunay-Weber syndrome: case report. (24101274)
2013
17
Images in vascular medicine. The mystery of a crimson leg: a case of Klippel-Trenaunay-Weber syndrome. (23263154)
2013
18
Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome. (23161195)
2012
19
Encephalotrigeminal Angiomatosis (Sturge-Weber Syndrome, Klippel-Trenaunay-Weber Syndrome): A Review. (26107478)
2012
20
Klippel-trenaunay-weber syndrome with hemimegalencephaly; report of a pediatric case. (23056878)
2012
21
Recurrent cerebral infarction in Klippel-Trenaunay-Weber syndrome. (22342818)
2012
22
Klippel - trenaunay - weber syndrome. (24027717)
2012
23
Neurological picture: A case of cerebral and retinal vascular anomaly in a patient with Klippel-Trenaunay-Weber syndrome. (21746741)
2011
24
Sclerotherapy of rectal hemangiomas in a child with Klippel-Trenaunay-Weber syndrome. (21057326)
2011
25
Lengthening of the normal tibia in a patient with hemihypertrophy caused by Klippel- Trenaunay-Weber syndrome: a case report. (22184171)
2011
26
Persistent fetal vasculature and spontaneous hyphema in a patient with Klippel-Trenaunay-Weber syndrome. (20736130)
2010
27
Control of disseminated intravascular coagulation in Klippel-Trenaunay-Weber syndrome using enoxaparin and recombinant activated factor VIIa: a case report. (20302608)
2010
28
A girl of Klippel-Trenaunay Weber syndrome coexistence of recurrent bloody vaginal discharge. (19768566)
2010
29
Open-bite orthodontic-surgical treatment in the Klippel-Trenaunay-Weber syndrome: a case report. (20451830)
2010
30
Electroconvulsive therapy in a patient with Klippel-Trenaunay-Weber syndrome complicated by partial popliteal vein thrombosis. (21099378)
2010
31
Multiple cerebral and spinal cord cavernomas in Klippel-Trenaunay-Weber syndrome. (20493710)
2010
32
Klippel-Trenaunay-Weber syndrome: orodental manifestations and management considerations. (19464652)
2009
33
Management of a femoral diaphyseal fracture in a patient with Klippel-Trenaunay-Weber syndrome: a case report. (19918405)
2009
34
Klippel-Trenaunay-Weber syndrome with partial motor seizures and hemimegalencephaly. (21063293)
2008
35
Conus medullaris spinal arteriovenous malformation in a patient with klippel-trenaunay-weber syndrome. A case report and review of the literature. (20557760)
2008
36
Cognitive level and adaptive behaviour in the Klippel-Trenaunay-Weber Syndrome. An example of the potentials of an early intervention model applied to a complex pathology. (18608386)
2008
37
Overlapping of Sturge Weber syndrome and Klippel Trenaunay Weber syndrome. (18285739)
2008
38
Management of urethral hemangiomas associated with Klippel-Trenaunay-Weber syndrome by endoscopic sclerotherapy. (17645615)
2007
39
Re: Urogenital involvement in the Klippel-Trenaunay-Weber Syndrome. Treatment options and results. (17488549)
2007
40
Spinal arteriovenous malformations associated with Klippel-Trenaunay-Weber syndrome: a literature search and report of two cases. (17353342)
2007
41
Pulmonary embolism in a patient with Klippel-Trenaunay-Weber syndrome. (17001548)
2006
42
Klippel-Trenaunay-Weber syndrome and intramedullary cervical cavernoma: a very rare association. Case report. (16876633)
2006
43
Deviated nasal septum in case of Klippel-Trenaunay-Weber Syndrome. (23120322)
2006
44
Urogenital involvement in the Klippel-Trenaunay-Weber syndrome. Treatment options and results. (17201948)
2006
45
Klippel-Trenaunay-Weber syndrome involving fetal thigh: prenatal presentations and outcomes. (16832837)
2006
46
SIR 2005 Annual Meeting Film Panel case: Klippel-Trenaunay-Weber syndrome. (16151056)
2005
47
Sciatic nerve enlargement in the Klippel-Trenaunay-Weber syndrome. (15897045)
2005
48
Images in cardiovascular medicine. Klippel-Trenaunay-Weber syndrome. (15668346)
2005
49
An infantile case of Sturge-Weber syndrome in association with Klippel-Trenaunay-Weber syndrome and phakomatosis pigmentovascularis. (16361829)
2005
50
Prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome: a case report. (15916215)
2005

Variations for Klippel-Trenaunay-Weber Syndrome

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

70
id Symbol AA change Variation ID SNP ID
1AGGF1p.Glu133LysVAR_017901rs34203073

Expression for genes affiliated with Klippel-Trenaunay-Weber Syndrome

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

Pathways for genes affiliated with Klippel-Trenaunay-Weber Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.1KRIT1, RASA1

GO Terms for genes affiliated with Klippel-Trenaunay-Weber Syndrome

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1blood vessel developmentGO:000156810.3FOXC2, SOX18
2embryonic heart tube developmentGO:003505010.3FOXC2, SOX18
3positive regulation of endothelial cell migrationGO:00105959.9FLT4, FOXC2
4heart developmentGO:00075079.8CCM2, FOXC2, SOX18
5blood vessel morphogenesisGO:00485149.7FLT4, RASA1
6lymph vessel developmentGO:00019459.6FLT4, FOXC2, SOX18
7lymphangiogenesisGO:00019469.6FLT4, FOXC2, SOX18
8vasculature developmentGO:00019449.6CCM2, FLT4, SOX18
9angiogenesisGO:00015259.0AGGF1, FLT4, KRIT1, PDCD10, SOX18
10vasculogenesisGO:00015708.3AGGF1, CCM2, GLMN, RASA1, SOX18

Sources for Klippel-Trenaunay-Weber Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet