MCID: PRK003
MIFTS: 37

Parkes Weber Syndrome malady

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

Aliases & Classifications for Parkes Weber Syndrome

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Aliases & Descriptions for Parkes Weber Syndrome:

Name: Parkes Weber Syndrome 51 47 25 53 69
Pkws 47 25 69
 
Parkes-Weber Syndrome 25 26

Characteristics:

Orphanet epidemiological data:

53
parkes weber syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM51 608355
Orphanet53 ORPHA90307
ICD10 via Orphanet30 Q87.2
MedGen36 CN074207

Summaries for Parkes Weber Syndrome

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NIH Rare Diseases:47 Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels. The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arteriovenous fistulas (abnormal connections between arteries and veins) which can potentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations in the RASA1 gene, and are inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may include embolization or surgery in the affected limb. Last updated: 12/22/2016

MalaCards based summary: Parkes Weber Syndrome, also known as pkws, is related to parkes weber syndrome, rasa1-related and capillary malformation-arteriovenous malformation, and has symptoms including abnormality of coagulation, abnormality of limb bone morphology and skeletal muscle hypertrophy. An important gene associated with Parkes Weber Syndrome is RASA1 (RAS P21 Protein Activator 1). Affiliated tissues include heart, skin and bone.

Genetics Home Reference:25 Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.

UniProtKB/Swiss-Prot:69 Parkes Weber syndrome: Disorder characterized by a cutaneous flush with underlying multiple micro-arteriovenous fistulas, in association with soft tissue and skeletal hypertrophy of the affected limb.

Description from OMIM:51 608355

Related Diseases for Parkes Weber Syndrome

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Graphical network of diseases related to Parkes Weber Syndrome:



Diseases related to parkes weber syndrome

Symptoms for Parkes Weber Syndrome

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Clinical features from OMIM:

608355

Human phenotypes related to Parkes Weber Syndrome:

 63 53 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of coagulation63 hallmark (90%) HP:0001928
2 abnormality of limb bone morphology63 hallmark (90%) HP:0002813
3 skeletal muscle hypertrophy63 hallmark (90%) HP:0003712
4 lower limb asymmetry63 hallmark (90%) HP:0100559
5 telangiectasia of the skin63 hallmark (90%) HP:0100585
6 peripheral arteriovenous fistula63 53 hallmark (90%) Very frequent (99-80%) HP:0100784
7 venous insufficiency63 typical (50%) HP:0005293
8 glaucoma63 53 occasional (7.5%) Occasional (29-5%) HP:0000501
9 congestive heart failure63 53 occasional (7.5%) Occasional (29-5%) HP:0001635
10 migraine63 occasional (7.5%) HP:0002076
11 hemiplegia/hemiparesis63 occasional (7.5%) HP:0004374
12 nevus flammeus53 Very frequent (99-80%)
13 hemiparesis53 Occasional (29-5%)
14 abnormal bleeding53 Very frequent (99-80%)
15 headache53 Occasional (29-5%)
16 varicose veins53 Frequent (79-30%)
17 hypertrophy of the upper limb53 Very frequent (99-80%)
18 hypertrophy of the lower limb53 Very frequent (99-80%)
19 vascular skin abnormality53 Occasional (29-5%)
20 teleangiectasia of the skin53 Very frequent (99-80%)

Drugs & Therapeutics for Parkes Weber Syndrome

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Drugs for Parkes 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
14Institutional Registry of Haemorrhagic Hereditary TelangiectasiaRecruitingNCT01761981
15Lymphatic Anomalies RegistryRecruitingNCT02399527
16French National Cohort of Children With Port Wine StainActive, not recruitingNCT01364857

Search NIH Clinical Center for Parkes Weber Syndrome

Genetic Tests for Parkes Weber Syndrome

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Genetic tests related to Parkes Weber Syndrome:

id Genetic test Affiliating Genes
1 Parkes Weber Syndrome26

Anatomical Context for Parkes Weber Syndrome

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MalaCards organs/tissues related to Parkes Weber Syndrome:

35
Heart, Skin, Bone, Eye, Skeletal muscle

Animal Models for Parkes Weber Syndrome or affiliated genes

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Publications for Parkes Weber Syndrome

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Articles related to Parkes Weber Syndrome:

(show all 36)
idTitleAuthorsYear
1
Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review. (27511883)
2016
2
A rare case of worsening of Parkes-Weber syndrome with development of POEMS syndrome. (27649853)
2016
3
Combined surgical and endovascular treatment of complex high-flow conus medullaris arteriovenous fistula associated with Parkes Weber syndrome: case report. (27015132)
2016
4
Pulmonary hypertension associated with Parkes-Weber syndrome (a rare congenital arteriovenous malformation). (27707981)
2016
5
Chronic foot ulcer caused by Parkes Weber syndrome. (27197605)
2016
6
Nodular Proliferation in Parkes Weber Syndrome. (27575310)
2016
7
Parkes weber syndrome involving right lower limb: a case report. (25972672)
2015
8
Parkes-Weber syndrome. (25553944)
2015
9
Parkes Weber syndrome: a case of right lower limb hypertrophy. (26471502)
2015
10
Unusual Case of Parkes Weber Syndrome with Aneurysm of the Left Common Iliac Vein and Thrombus in Inferior Vena Cava. (26122423)
2015
11
Rat Model of Parkes Weber Syndrome. (26217941)
2015
12
Images in clinical medicine. Parkes Weber syndrome. (25427114)
2014
13
Stewart-bluefarb acroangiodermatitis in a case of parkes-weber syndrome. (25071266)
2014
14
Distinctive features of stump volume change in a fresh lower limb amputee with Parkes-Weber syndrome. (25336554)
2014
15
Parkes-Weber Syndrome. (24985249)
2014
16
Giant arteriovenous fistula in Parkes Weber syndrome. (24970657)
2014
17
Diagnosis and treatment of Parkes Weber syndrome: a review of 10 consecutive patients. (23880459)
2013
18
Parkes weber syndrome and spinal arteriovenous malformations. (23928137)
2013
19
Challenges in orthopaedic management of Parkes-Weber syndrome. (23606384)
2013
20
Parkes-Weber syndrome and giant superficial femoral artery aneurysm. Treatment by endovascular therapy and follow-up of 8 years. (21183311)
2011
21
General anesthesia in a patient with Parkes Weber syndrome with high-output cardiac failure due to multiple arteriovenous fistulas complicated by severe aortic regurgitation. (20140461)
2010
22
Parkes-Weber syndrome associated with a congenital short femur of the affected limb. (18835518)
2009
23
Images in vascular medicine. Parkes Weber syndrome: bone involvement visualized by computed tomography angiography. (19144783)
2009
24
Successful obstetrical management of a woman with Parkes-Weber syndrome. (18439741)
2008
25
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. (18446851)
2008
26
Parkes Weber syndrome occurring in a family with capillary malformations. (17551330)
2007
27
Images in cardiovascular medicine. Multimodality imaging of hemangiectasia hypertrophicans (Klippel-Trenaunay-Parkes-Weber syndrome). (15353513)
2004
28
Klippel trenaunay Parkes-Weber syndrome. (17642585)
2004
29
Hemodynamic observations in a newborn with Parkes-Weber syndrome. (10190931)
1999
30
Multiple spinal perimedullary arteriovenous fistulae associated with the parkes-weber syndrome. A case report. (20673403)
1998
31
Lower leg fracture with Parkes-Weber syndrome complicated by disseminated intravascular coagulation. (8537852)
1995
32
A case of the Klippel-Trenaunay-Parkes Weber syndrome. (50699)
1975
33
Klippel-Trenaunay-Parkes-Weber Syndrome. (5732668)
1968
34
The Klippel-Trenaunay-Parkes Weber syndrome. (5231804)
1966
35
Hemangiectatic hypertrophy (Parkes Weber Syndrome). (15411239)
1950
36
Nodular nonsuppurative panniculitis; Parkes-Weber syndrome. (18098648)
1948

Variations for Parkes Weber Syndrome

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Clinvar genetic disease variations for Parkes Weber Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RASA1NM_002890.2(RASA1): c.475_476delCT (p.Leu159Glyfs)deletionPathogenicrs797044451GRCh37Chr 5, 86564743: 86564744

Expression for genes affiliated with Parkes Weber Syndrome

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Search GEO for disease gene expression data for Parkes Weber Syndrome.

Pathways for genes affiliated with Parkes Weber Syndrome

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GO Terms for genes affiliated with Parkes Weber Syndrome

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Sources for Parkes Weber Syndrome

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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