MCID: KLP010
MIFTS: 54

Klippel-Trenaunay-Weber Syndrome malady

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

Aliases & Classifications for Klippel-Trenaunay-Weber Syndrome

About this section

Aliases & Descriptions for Klippel-Trenaunay-Weber Syndrome:

Name: Klippel-Trenaunay-Weber Syndrome 51 11 47 24 12 38
Klippel-Trenaunay Syndrome 11 47 25 48 69 49 13
Kts 47 24 25 69
Angio-Osteohypertrophy Syndrome 47 25
Klippel-Trénaunay Syndrome 53 26
Ktw Syndrome 47 24
Klippel-Trénaunay-Weber Syndrome 47
 
Congenital Dysplastic Angiopathy 25
Angioosteohypertrophy Syndrome 11
Haemangiectatic Hypertrophy 11
Klippel Trenaunay Syndrome 47
Klippel-Trenaunay Disease 25
Weber-Klippel-Trenaunay 47
Weber Klippel Trenaunay 67

Characteristics:

Orphanet epidemiological data:

53
klippel-trénaunay syndrome:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (United States),<1/1000000 (Europe); Age of onset: Infancy,Neonatal

HPO:

63
klippel-trenaunay-weber syndrome:
Inheritance: sporadic

Classifications:



External Ids:

OMIM51 149000
Disease Ontology11 DOID:2926
ICD1029 Q87.2
MeSH38 D007715
SNOMED-CT61 59078009
NCIt44 C84801
Orphanet53 ORPHA90308
ICD10 via Orphanet30 Q87.2
MedGen36 C0022739

Summaries for Klippel-Trenaunay-Weber Syndrome

About this section
NIH Rare Diseases:47 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

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 abnormality of the skin, venous insufficiency and lower limb asymmetry. 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 eye, 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.

UniProtKB/Swiss-Prot:69 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.

NINDS:48 Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue.

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.

Description from OMIM:51 149000

Related Diseases for Klippel-Trenaunay-Weber Syndrome

About this section

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



Diseases related to klippel-trenaunay-weber syndrome

Symptoms for Klippel-Trenaunay-Weber Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

149000

Clinical features from OMIM:

149000

Human phenotypes related to Klippel-Trenaunay-Weber Syndrome:

 63 53 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the skin63 hallmark (90%) HP:0000951
2 venous insufficiency63 53 hallmark (90%) Very frequent (99-80%) HP:0005293
3 lower limb asymmetry63 53 hallmark (90%) Very frequent (99-80%) HP:0100559
4 tall stature63 53 typical (50%) Frequent (79-30%) HP:0000098
5 pulmonary embolism63 53 typical (50%) Frequent (79-30%) HP:0002204
6 gastrointestinal hemorrhage63 53 typical (50%) Frequent (79-30%) HP:0002239
7 thrombophlebitis63 typical (50%) HP:0004418
8 cellulitis63 53 typical (50%) Frequent (79-30%) HP:0100658
9 abnormality of the menstrual cycle63 53 occasional (7.5%) Occasional (29-5%) HP:0000140
10 microcephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000252
11 macrocephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000256
12 hematuria63 53 occasional (7.5%) Occasional (29-5%) HP:0000790
13 ascites63 53 occasional (7.5%) Occasional (29-5%) HP:0001541
14 atria septal defect63 occasional (7.5%) HP:0001631
15 congestive heart failure63 53 occasional (7.5%) Occasional (29-5%) HP:0001635
16 patent ductus arteriosus63 53 occasional (7.5%) Occasional (29-5%) HP:0001643
17 abnormality of the tricuspid valve63 53 occasional (7.5%) Occasional (29-5%) HP:0001702
18 hydrops fetalis63 53 occasional (7.5%) Occasional (29-5%) HP:0001789
19 microcytic anemia63 53 occasional (7.5%) Occasional (29-5%) HP:0001935
20 respiratory insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0002093
21 hepatomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0002240
22 abnormality of the pulmonary artery63 53 occasional (7.5%) Occasional (29-5%) HP:0004414
23 cognitive impairment63 occasional (7.5%) HP:0100543
24 hypercoagulability63 53 occasional (7.5%) Occasional (29-5%) HP:0100724
25 peripheral arteriovenous fistula63 53 occasional (7.5%) Occasional (29-5%) HP:0100784
26 glaucoma63 HP:0000501
27 lymphedema63 HP:0001004
28 hemangioma63 53 Very frequent (99-80%) HP:0001028
29 syndactyly63 HP:0001159
30 hand polydactyly63 HP:0001161
31 hand oligodactyly63 HP:0001180
32 intellectual disability63 53 Occasional (29-5%) HP:0001249
33 seizures63 HP:0001250
34 hemihypertrophy63 HP:0001528
35 abnormality of blood and blood-forming tissues63 HP:0001871
36 macrodactyly63 HP:0004099
37 arteriovenous fistula63 HP:0004947
38 hyperpigmented nevi and streak63 HP:0005606
39 lymphangioma63 HP:0100764
40 abnormality of the skull53 Occasional (29-5%)
41 edema53 Occasional (29-5%)
42 defect in the atrial septum53 Occasional (29-5%)
43 prolonged bleeding time53 Occasional (29-5%)
44 venous thrombosis53 Frequent (79-30%)
45 internal hemorrhage53 Occasional (29-5%)
46 abnormality of skeletal morphology53 Very frequent (99-80%)
47 upper limb asymmetry53 Very frequent (99-80%)

Drugs & Therapeutics for Klippel-Trenaunay-Weber Syndrome

About this section

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

(show all 30)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tranexamic AcidapprovedPhase 32571197-18-85526
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
2CoagulantsPhase 31428
3Antifibrinolytic AgentsPhase 3459
4HemostaticsPhase 31359
5
Miconazoleapproved, investigational, vet_approvedPhase 2362422916-47-84189
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
6
Sirolimusapproved, investigationalPhase 2189653123-88-95284616, 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
7
EverolimusapprovedPhase 21896159351-69-66442177
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
8Immunosuppressive AgentsPhase 212770
9Antifungal AgentsPhase 23615
10Anti-Infective AgentsPhase 221402
11Anti-Bacterial AgentsPhase 210884
12Antibiotics, AntitubercularPhase 26972
13Pharmaceutical SolutionsPhase 1, Phase 27793
14Angiogenesis Modulating AgentsPhase 24072
15Angiogenesis InhibitorsPhase 24143
16AnticonvulsantsPhase 1, Phase 22620
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 1293110-16-7444266
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 11092
20TetrahydrozolinePhase 1593
21Adrenergic AgentsPhase 15140
22Adrenergic beta-AntagonistsPhase 11154
23Neurotransmitter AgentsPhase 117734
24Adrenergic AntagonistsPhase 11535
25Antihypertensive AgentsPhase 14095
26Anti-Arrhythmia AgentsPhase 12969
27Lubricant Eye DropsPhase 1162
28Immunoglobulins6045
29Antibodies6045
30GTPase-Activating Proteins1

Interventional clinical trials:

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

About this section

Genetic tests related to Klippel-Trenaunay-Weber Syndrome:

id Genetic test Affiliating Genes
1 Klippel Trenaunay Syndrome26
2 Klippel-Trenaunay-Weber Syndrome24

Anatomical Context for Klippel-Trenaunay-Weber Syndrome

About this section

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

35
Bone, Skin, Eye, Heart, Spinal cord, Testis, Spleen

Animal Models for Klippel-Trenaunay-Weber Syndrome or affiliated genes

About this section

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7FLT4, FOXC2, RASA1, SOX18, SST
2MP:00053698.1CCM2, FLT4, FOXC2, KRIT1, PDCD10, RASA1
3MP:00053877.9CCM2, FLT4, FOXC2, PDCD10, RASA1, SOX18
4MP:00028737.8CCM2, FLT4, FOXC2, PDCD10, SOX18, SST
5MP:00053807.8CCM2, FLT4, FOXC2, GLMN, KRIT1, PDCD10
6MP:00036317.7CCM2, FOXC2, GLMN, KRIT1, PDCD10, RASA1
7MP:00053857.5CCM2, FLT4, FOXC2, GLMN, KRIT1, PDCD10
8MP:00053786.9CCM2, FLT4, FOXC2, GLMN, KRIT1, PDCD10
9MP:00107686.9CCM2, FLT4, FOXC2, GLMN, KRIT1, PDCD10

Publications for Klippel-Trenaunay-Weber Syndrome

About this section

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
Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero. (26578498)
2015
3
A case of newly diagnosed klippel trenaunay weber syndrome presenting with nephrotic syndrome. (26000182)
2015
4
Photoclinic. Co-existence of Abernethy malformation and Klippel-Trenaunay-Weber syndrome. (25065286)
2014
5
Terminal deletion 2q37.3 in a patient with Klippel-Trenaunay-Weber syndrome. (23438794)
2013
6
Images in vascular medicine. The mystery of a crimson leg: a case of Klippel-Trenaunay-Weber syndrome. (23263154)
2013
7
Encephalotrigeminal Angiomatosis (Sturge-Weber Syndrome, Klippel-Trenaunay-Weber Syndrome): A Review. (26107478)
2012
8
Recurrent cerebral infarction in Klippel-Trenaunay-Weber syndrome. (22342818)
2012
9
Klippel-trenaunay-weber syndrome with hemimegalencephaly; report of a pediatric case. (23056878)
2012
10
Neurological picture: A case of cerebral and retinal vascular anomaly in a patient with Klippel-Trenaunay-Weber syndrome. (21746741)
2011
11
Lengthening of the normal tibia in a patient with hemihypertrophy caused by Klippel- Trenaunay-Weber syndrome: a case report. (22184171)
2011
12
Control of disseminated intravascular coagulation in Klippel-Trenaunay-Weber syndrome using enoxaparin and recombinant activated factor VIIa: a case report. (20302608)
2010
13
Open-bite orthodontic-surgical treatment in the Klippel-Trenaunay-Weber syndrome: a case report. (20451830)
2010
14
Multiple cerebral and spinal cord cavernomas in Klippel-Trenaunay-Weber syndrome. (20493710)
2010
15
Management of a femoral diaphyseal fracture in a patient with Klippel-Trenaunay-Weber syndrome: a case report. (19918405)
2009
16
Overlapping of Sturge Weber syndrome and Klippel Trenaunay Weber syndrome. (18285739)
2008
17
Klippel-Trenaunay-Weber syndrome with partial motor seizures and hemimegalencephaly. (21063293)
2008
18
Management of urethral hemangiomas associated with Klippel-Trenaunay-Weber syndrome by endoscopic sclerotherapy. (17645615)
2007
19
Re: Urogenital involvement in the Klippel-Trenaunay-Weber Syndrome. Treatment options and results. (17488549)
2007
20
Urogenital involvement in the Klippel-Trenaunay-Weber syndrome. Treatment options and results. (17201948)
2006
21
Klippel-Trenaunay-Weber syndrome involving fetal thigh: prenatal presentations and outcomes. (16832837)
2006
22
Pulmonary embolism in a patient with Klippel-Trenaunay-Weber syndrome. (17001548)
2006
23
An infantile case of Sturge-Weber syndrome in association with Klippel-Trenaunay-Weber syndrome and phakomatosis pigmentovascularis. (16361829)
2005
24
Klippel-Trenaunay-Weber syndrome with labyrinthine bony overgrowth and mixed hearing loss, a case report. (15236896)
2004
25
Charcot osteoarthropathy in a case of Klippel-Trenaunay-Weber syndrome. (14587998)
2003
26
Klippel-Trenaunay-Weber syndrome with abdominal hemangiomata appearing on ultrasound examination as intestinal obstruction. (14618672)
2003
27
An unusual case of Sturge-Weber syndrome in association with phakomatosis pigmentovascularis and Klippel-Trenaunay-Weber syndrome. (12055477)
2002
28
Myelopathy due to scoliosis with vertebral hypertrophy in Klippel-Trenaunay-Weber syndrome. (11880917)
2002
29
Direct MR venography of persistent sciatic vein in a patient with Klippel-Trenaunay-Weber syndrome. (11804934)
2002
30
An unusual postextraction hemorrhage associated with Klippel-Trenaunay-Weber syndrome. (11213990)
2001
31
Klippel-Trenaunay-Weber syndrome with hemimegalencephaly. (11314632)
2001
32
Klippel-Trenaunay-Weber syndrome presenting as massive lymphangiohemangioma of the thigh: prenatal diagnosis. (11005126)
2000
33
Prenatal sonographic appearances of Klippel-Trenaunay-Weber syndrome. (10327144)
1999
34
Klippel-Trenaunay-Weber syndrome in pregnancy and at delivery. (15512232)
1999
35
Application of the surface rendering technique of three-dimensional ultrasound in prenatal diagnosis and counselling of Klippel-Trenaunay-Weber syndrome. (9556049)
1998
36
Klippel-Trenaunay-Weber syndrome with adrenal pseudocyst: characterization by blood pool and adrenocortical iodocholesterol scintigraphy. (9712387)
1998
37
Extensive small bowel varices as a cause of severe anemia in Klippel-Trenaunay-Weber syndrome. (9820414)
1998
38
Sonographic demonstration of widespread uterine angiomatosis in a pregnant patient with Klippel-Trenaunay-Weber syndrome. (9321785)
1997
39
Thrombosed fusiform basilar aneurysm associated with Klippel-Trenaunay-Weber syndrome: case report. (9030066)
1997
40
Klippel-Trenaunay-Weber syndrome: three-dimensional sonographic imaging. (8553985)
1996
41
Anaesthetic management for Klippel-Trenaunay-Weber syndrome. (8839096)
1996
42
Klippel-Trenaunay-Weber syndrome with hemimegalencephaly. Report of a case. (8701499)
1996
43
Klippel-Trenaunay-Weber syndrome with hemimegalencephaly: report of one case. (8935415)
1996
44
Splenic lymphangioma. An unusual manifestation of the Klippel-Trenaunay-Weber syndrome. (8521671)
1995
45
Klippel Trenaunay Weber syndrome associated with abdominal hamartoma with undescended testis. (8617545)
1995
46
Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation. (8585570)
1995
47
Prenatal ultrasonic appearance of the Klippel-Trenaunay-Weber syndrome mimicking sacrococcygeal teratoma with an elevated level of maternal serum hCG. (8177838)
1993
48
Proteus syndrome: report of the first Japanese case with special reference to differentiation from Klippel-Trenaunay-Weber syndrome. (1328340)
1992
49
Klippel-Trenaunay-Weber syndrome: a case with cerebral and cerebellar hemihypertrophy. (2845296)
1988
50
Klippel-Trenaunay-Weber syndrome with melorheostosis. (6317628)
1983

Variations for Klippel-Trenaunay-Weber Syndrome

About this section

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

69
id Symbol AA change Variation ID SNP ID
1AGGF1p.Glu133LysVAR_017901rs34203073

Expression for genes affiliated with Klippel-Trenaunay-Weber Syndrome

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

Pathways for genes affiliated with Klippel-Trenaunay-Weber Syndrome

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.0KRIT1, RASA1

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

About this section

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of endothelial cell migrationGO:001059510.0FLT4, FOXC2
2positive regulation of endothelial cell proliferationGO:000193810.0AGGF1, FLT4
3embryonic heart tube developmentGO:00350509.9FOXC2, SOX18
4blood vessel developmentGO:00015689.9FOXC2, SOX18
5lymph vessel developmentGO:00019459.6FLT4, FOXC2, SOX18
6lymphangiogenesisGO:00019469.6FLT4, FOXC2, SOX18
7vasculature developmentGO:00019449.4CCM2, FLT4, SOX18
8heart developmentGO:00075079.3CCM2, FOXC2, SOX18
9blood vessel morphogenesisGO:00485149.2FLT4, RASA1
10angiogenesisGO:00015258.8AGGF1, KRIT1, PDCD10, SOX18
11vasculogenesisGO:00015708.5AGGF1, CCM2, GLMN, RASA1, SOX18

Sources for Klippel-Trenaunay-Weber Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet