PKWS
MCID: PRK003
MIFTS: 37

Parkes Weber Syndrome (PKWS) malady

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

Aliases & Classifications for Parkes Weber Syndrome

Aliases & Descriptions for Parkes Weber Syndrome:

Name: Parkes Weber Syndrome 54 50 25 56 66
Pkws 50 25 66
Parkes-Weber Syndrome 25 29

Characteristics:

Orphanet epidemiological data:

56
parkes weber syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 54 608355
Orphanet 56 ORPHA90307
ICD10 via Orphanet 34 Q87.2
MedGen 40 CN074207

Summaries for Parkes Weber Syndrome

NIH Rare Diseases : 50 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 headache, hemiparesis and abnormal bleeding. An important gene associated with Parkes Weber Syndrome is RASA1 (RAS P21 Protein Activator 1). The drugs Tranexamic Acid and Everolimus have been mentioned in the context of this disorder. 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 : 66 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: 608355

Related Diseases for Parkes Weber Syndrome

Diseases in the Parkes Weber Syndrome family:

Parkes Weber Syndrome, Rasa1-Related

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

(show all 15)
id Related Disease Score Top Affiliating Genes
1 parkes weber syndrome, rasa1-related 12.1
2 capillary malformation-arteriovenous malformation 11.0
3 klippel-trenaunay-weber syndrome 11.0
4 weber syndrome 10.6
5 arteriovenous fistula 10.1
6 aneurysm 10.0
7 arteriovenous malformation 9.9
8 disseminated intravascular coagulation 9.8
9 poems syndrome 9.8
10 nodular nonsuppurative panniculitis 9.8
11 panniculitis 9.8
12 congenital short femur 9.8
13 vein of galen aneurysm 9.8
14 lower limb hypertrophy 9.8
15 pulmonary hypertension 9.8

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



Diseases related to Parkes Weber Syndrome

Symptoms & Phenotypes for Parkes Weber Syndrome

Clinical features from OMIM:

608355

Human phenotypes related to Parkes Weber Syndrome:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 headache 56 32 Occasional (29-5%) HP:0002315
2 hemiparesis 56 32 Occasional (29-5%) HP:0001269
3 abnormal bleeding 56 32 Very frequent (99-80%) HP:0001892
4 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
5 glaucoma 56 32 Occasional (29-5%) HP:0000501
6 varicose veins 56 32 Frequent (79-30%) HP:0002619
7 nevus flammeus 56 32 Very frequent (99-80%) HP:0001052
8 peripheral arteriovenous fistula 56 32 Very frequent (99-80%) HP:0100784
9 hypertrophy of the upper limb 56 32 Very frequent (99-80%) HP:0010484
10 hypertrophy of the lower limb 56 32 Very frequent (99-80%) HP:0010496
11 vascular skin abnormality 56 Occasional (29-5%)
12 teleangiectasia of the skin 56 Very frequent (99-80%)
13 telangiectasia of the skin 32 HP:0100585

Drugs & Therapeutics for Parkes Weber Syndrome

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

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 3 1197-18-8 5526
2
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
5 Antifibrinolytic Agents Phase 3
6 Coagulants Phase 3
7 Hemostatics Phase 3
8 Anti-Bacterial Agents Phase 2, Phase 3
9 Antibiotics, Antitubercular Phase 2, Phase 3
10 Antifungal Agents Phase 2, Phase 3
11 Anti-Infective Agents Phase 2, Phase 3
12 Immunosuppressive Agents Phase 2, Phase 3
13 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
14 Anticonvulsants Phase 1, Phase 2
15 Angiogenesis Inhibitors Phase 2
16 Angiogenesis Modulating Agents Phase 2
17
Timolol Approved Phase 1 26839-75-8 33624 5478
18
Maleic acid Experimental Phase 1 110-16-7 444266
19 Adrenergic Agents Phase 1
20 Adrenergic Antagonists Phase 1
21 Adrenergic beta-Antagonists Phase 1
22 Anti-Arrhythmia Agents Phase 1
23 Antihypertensive Agents Phase 1
24 Lubricant Eye Drops Phase 1
25 Neurotransmitter Agents Phase 1
26 Ophthalmic Solutions Phase 1
27 Tetrahydrozoline Phase 1
28 Antibodies
29 Immunoglobulins
30 GTPase-Activating Proteins

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3
2 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Recruiting NCT03047980 Phase 2, Phase 3
3 Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome Completed NCT02080624 Phase 2
4 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2
5 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT01485224 Phase 2
6 Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS) Withdrawn NCT01997255 Phase 2
7 Use of the Atkins Diet for Children With Sturge Weber Syndrome Completed NCT00639730 Phase 1
8 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Recruiting NCT01533376 Phase 1
9 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
10 Biomarker Development in Sturge-Weber Syndrome Completed NCT01345305
11 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
12 Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Recruiting NCT01425944
13 Immunmodulation in Patients With HHT Recruiting NCT02983253
14 Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia Recruiting NCT02690246
15 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Recruiting NCT01761981
16 Lymphatic Anomalies Registry Recruiting NCT02399527
17 French National Cohort of Children With Port Wine Stain Active, not recruiting NCT01364857

Search NIH Clinical Center for Parkes Weber Syndrome

Genetic Tests for Parkes Weber Syndrome

Genetic tests related to Parkes Weber Syndrome:

id Genetic test Affiliating Genes
1 Parkes Weber Syndrome 29

Anatomical Context for Parkes Weber Syndrome

MalaCards organs/tissues related to Parkes Weber Syndrome:

39
Heart, Skin, Bone

Publications for Parkes Weber Syndrome

Articles related to Parkes Weber Syndrome:

(show all 36)
id Title Authors Year
1
Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review. ( 27511883 )
2016
2
Chronic foot ulcer caused by Parkes Weber syndrome. ( 27197605 )
2016
3
A rare case of worsening of Parkes-Weber syndrome with development of POEMS syndrome. ( 27649853 )
2016
4
Pulmonary hypertension associated with Parkes-Weber syndrome (a rare congenital arteriovenous malformation). ( 27707981 )
2016
5
Combined surgical and endovascular treatment of complex high-flow conus medullaris arteriovenous fistula associated with Parkes Weber syndrome: case report. ( 27015132 )
2016
6
Nodular Proliferation in Parkes Weber Syndrome. ( 27575310 )
2016
7
Rat Model of Parkes Weber Syndrome. ( 26217941 )
2015
8
Parkes weber syndrome involving right lower limb: a case report. ( 25972672 )
2015
9
Unusual Case of Parkes Weber Syndrome with Aneurysm of the Left Common Iliac Vein and Thrombus in Inferior Vena Cava. ( 26122423 )
2015
10
Parkes-Weber syndrome. ( 25553944 )
2015
11
Parkes Weber syndrome: a case of right lower limb hypertrophy. ( 26471502 )
2015
12
Images in clinical medicine. Parkes Weber syndrome. ( 25427114 )
2014
13
Parkes-Weber Syndrome. ( 24985249 )
2014
14
Stewart-bluefarb acroangiodermatitis in a case of parkes-weber syndrome. ( 25071266 )
2014
15
Distinctive features of stump volume change in a fresh lower limb amputee with Parkes-Weber syndrome. ( 25336554 )
2014
16
Giant arteriovenous fistula in Parkes Weber syndrome. ( 24970657 )
2014
17
Parkes weber syndrome and spinal arteriovenous malformations. ( 23928137 )
2013
18
Challenges in orthopaedic management of Parkes-Weber syndrome. ( 23606384 )
2013
19
Diagnosis and treatment of Parkes Weber syndrome: a review of 10 consecutive patients. ( 23880459 )
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

ClinVar genetic disease variations for Parkes Weber Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RASA1 NM_002890.2(RASA1): c.475_476delCT (p.Leu159Glyfs) deletion Pathogenic rs797044451 GRCh37 Chromosome 5, 86564743: 86564744

Expression for Parkes Weber Syndrome

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

Pathways for Parkes Weber Syndrome

GO Terms for Parkes Weber Syndrome

Sources for Parkes Weber Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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