MCID: PRK003
MIFTS: 36

Parkes Weber Syndrome malady

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

Aliases & Classifications for Parkes Weber Syndrome

About this section

Aliases & Descriptions for Parkes Weber Syndrome:

Name: Parkes Weber Syndrome 49 45 23 51 67
Pkws 45 23 67
 
Parkes-Weber Syndrome 23 24

Characteristics:

Orphanet epidemiological data:

51
parkes weber syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM49 608355
Orphanet51 90307
ICD10 via Orphanet28 Q87.2
MedGen34 CN074207

Summaries for Parkes Weber Syndrome

About this section
NIH Rare Diseases:45 Parkes weber syndrome (pws) is a rare congenital condition causing an individual to have a large number of abnormal blood vessels. the main characteristics 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. individuals may also have pain in the affected limb and a difference in size between the limbs. there has been evidence that some cases of pws are caused by mutations in the rasa1 gene and are inherited in an autosomal dominant manner. management typically depends on the presence and severity of symptoms and may include embolization or surgery in the affected limb. last updated: 6/9/2011

MalaCards based summary: Parkes Weber Syndrome, also known as pkws, is related to capillary malformation-arteriovenous malformation and parkes weber syndrome, rasa1-related, 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:23 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:67 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:49 608355

Related Diseases for Parkes Weber Syndrome

About this section

Graphical network of the top 20 diseases related to Parkes Weber Syndrome:



Diseases related to parkes weber syndrome

Symptoms for Parkes Weber Syndrome

About this section


Clinical features from OMIM:

608355

Symptoms:

 51 (show all 14)
  • global upper and lower limbs anomalies
  • upper limb asymmetry/hemiatrophy/hemihypertrophy
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • telangiectasiae of the skin
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • peripheral arteriovenous fistula
  • muscle hypertrophy
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • varices/varicous veins/venous insufficiency
  • glaucoma
  • vascular anomalies of skin/mucosae
  • heart/cardiac failure
  • facial pain/cephalalgia/migraine
  • hemiplegia/diplegia/hemiparesia/limb palsy

HPO human phenotypes related to Parkes Weber Syndrome:

(show all 11)
id Description Frequency HPO Source Accession
1 abnormality of coagulation hallmark (90%) HP:0001928
2 abnormality of limb bone morphology hallmark (90%) HP:0002813
3 skeletal muscle hypertrophy hallmark (90%) HP:0003712
4 lower limb asymmetry hallmark (90%) HP:0100559
5 telangiectasia of the skin hallmark (90%) HP:0100585
6 peripheral arteriovenous fistula hallmark (90%) HP:0100784
7 venous insufficiency typical (50%) HP:0005293
8 glaucoma occasional (7.5%) HP:0000501
9 congestive heart failure occasional (7.5%) HP:0001635
10 migraine occasional (7.5%) HP:0002076
11 hemiplegia/hemiparesis occasional (7.5%) HP:0004374

Drugs & Therapeutics for Parkes Weber Syndrome

About this section

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

(show all 31)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tranexamic AcidapprovedPhase 32261197-18-85526
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
Lysteda
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
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
2Antifibrinolytic AgentsPhase 3346
3HemostaticsPhase 31082
4CoagulantsPhase 31042
5
EverolimusapprovedPhase 21797159351-69-66442177
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
Afinitor Disperz
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
VOTUBIA
Zortress
everolimus
6
Sirolimusapproved, investigationalPhase 2179753123-88-95284616, 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
Miconazoleapproved, investigationalPhase 2302622916-47-84189
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
Desenex
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
Makesense
Micantin (nitrate)
Micatin
 
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
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
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
8Immunologic FactorsPhase 218483
9Immunosuppressive AgentsPhase 210422
10Anti-Infective AgentsPhase 217220
11Antifungal AgentsPhase 23015
12Anti-Bacterial AgentsPhase 29140
13Antibiotics, AntitubercularPhase 25971
14Pharmaceutical SolutionsPhase 1, Phase 27004
15Angiogenesis Modulating AgentsPhase 23611
16Angiogenesis InhibitorsPhase 23688
17AnticonvulsantsPhase 1, Phase 22249
18
TimololapprovedPhase 123626839-75-833624, 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
Timolol Maleate, (1:1) Salt
Timolol [USAN]
Timolol hemihydrate
Timolol maleate
Timololo
Timololum
Timololum [INN-Latin]
Timopic
Timoptic
Timoptic OcuDose
Timoptic in Ocudose
Timoptic-XE
Timoptic-xe
Timoptol
Tocris-0649
UNII-817W3C6175
timolol
19
Maleic acidexperimentalPhase 1274110-16-7444972, 444266
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
20Ophthalmic SolutionsPhase 11006
21TetrahydrozolinePhase 1542
22Adrenergic AgentsPhase 14204
23Adrenergic beta-AntagonistsPhase 1979
24Neurotransmitter AgentsPhase 114795
25Adrenergic AntagonistsPhase 11253
26Antihypertensive AgentsPhase 13618
27Anti-Arrhythmia AgentsPhase 12371
28Lubricant Eye DropsPhase 1153
29Immunoglobulins4477
30Antibodies4477
31GTPase-Activating Proteins1

Interventional clinical trials:

(show all 15)
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
12Lymphatic Anomalies RegistryRecruitingNCT02399527
13Institutional Registry of Haemorrhagic Hereditary TelangiectasiaRecruitingNCT01761981
14Symptoms and Treatment Results in Hereditary Hemorrhagic TelangiectasiaRecruitingNCT02690246
15French National Cohort of Children With Port Wine StainActive, not recruitingNCT01364857

Search NIH Clinical Center for Parkes Weber Syndrome

Genetic Tests for Parkes Weber Syndrome

About this section

Anatomical Context for Parkes Weber Syndrome

About this section

MalaCards organs/tissues related to Parkes Weber Syndrome:

33
Heart, Skin, Bone, Skeletal muscle, Colon, Nk cells, Eye

Animal Models for Parkes Weber Syndrome or affiliated genes

About this section

Publications for Parkes Weber Syndrome

About this section

Articles related to Parkes Weber Syndrome:

(show all 30)
idTitleAuthorsYear
1
Genetic diversity of multidrug-resistant tuberculosis in a resource-limited region of China. (25312982)
2014
2
The role of p21 Waf1/Cip1 in large airway epithelium in smokers with and without COPD. (23639631)
2013
3
Carcinoma showing thymus-like differentiation of the thyroid (CASTLE). (23920320)
2013
4
MicroRNA-17~92 plays a causative role in lymphomagenesis by coordinating multiple oncogenic pathways. (23921550)
2013
5
Prostaglandin E2 receptor EP1 phosphorylate CREB and mediates MMP2 expression in human cholangiocarcinoma cells. (23494562)
2013
6
Central retinal vein occlusion after intense exercise: response to intravitreal bevacizumab. (21707016)
2011
7
Ectopic Cushing's syndrome: experience from a tertiary care centre. (19287055)
2009
8
Islet-1 is required for ventral neuron survival in Xenopus. (19666005)
2009
9
Diversity of killer cell immunoglobulin-like receptor genes in Indonesian populations of Java, Kalimantan, Timor and Irian Jaya. (19000141)
2009
10
iNOS activity is necessary for the cytotoxic and immunogenic effects of doxorubicin in human colon cancer cells. (19925669)
2009
11
Engineering antigen-specific primary human NK cells against HER-2 positive carcinomas. (18987320)
2008
12
Rituximab combined with Peg-interferon-ribavirin in refractory hepatitis C virus-associated cryoglobulinaemia vasculitis. (18178690)
2008
13
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. (17503333)
2007
14
Emerging drugs for chemotherapy-induced emesis. (16503832)
2006
15
Bullous systemic lupus erythematosus. (15234014)
2004
16
One on one. Are there blood tests to detect genital herpes? Are they accurate? (14646923)
2002
17
Polymorphisms in the 5' flanking region of the HFE gene: linkage disequilibrium and relationship to iron homeostasis. (12064915)
2002
18
A combination therapy of dexamethasone and somatostatin analog reintroduces objective clinical responses to LHRH analog in androgen ablation-refractory prostate cancer patients. (11739429)
2001
19
Variable heavy chain gene analysis of follicular lymphomas: correlation between heavy chain isotype expression and somatic mutation load. (10779440)
2000
20
Acute colonic pseudo-obstruction (Ogilvie's syndrome) after renal transplantation. (10414701)
1999
21
Pattern reversal electroretinograms in patients with unilateral idiopathic full thickness macular holes. (10230590)
1999
22
Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA. (9771716)
1998
23
Sensitization of cis-platinum by a recombinant adenovirus vector expressing wild-type p53 gene in human ovarian carcinomas. (9563008)
1997
24
Demonstration of blood supply to pulmonary sequestration by MR angiography. (1566704)
1992
25
Efficacy of combined metronidazole and triple tetracycline therapy in the treatment of non-gonococcal urethritis. (2099197)
1990
26
Pars plana vitrectomy and intravitreal silicone oil injection in eyes with rubeosis iridis. (3955437)
1986
27
Gas gangrene. (6355502)
1983
28
Facial keratoacanthoma. (6410326)
1983
29
Childhood hypophosphatasia and the premature loss of teeth. A clinical and laboratory study of seven cases. (4512507)
1973
30
Study of the coagulation mechanism of pleural blood in hemopneumothorax. (15398852)
1950

Variations for Parkes Weber Syndrome

About this section

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

About this section
Search GEO for disease gene expression data for Parkes Weber Syndrome.

Pathways for genes affiliated with Parkes Weber Syndrome

About this section

GO Terms for genes affiliated with Parkes Weber Syndrome

About this section

Molecular functions related to Parkes Weber Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GTPase activator activityGO:00050969.1RASA1, RGS6

Sources for Parkes Weber Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet