MCID: PRK003
MIFTS: 38

Parkes Weber Syndrome

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

Aliases & Classifications for Parkes Weber Syndrome

MalaCards integrated aliases for Parkes Weber Syndrome:

Name: Parkes Weber Syndrome 53 72 49 24 55 71 28
Pkws 53 49 24 71
Parkes-Weber Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
parkes weber syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 53 608355
Orphanet 55 ORPHA90307
UMLS via Orphanet 70 C0038505
ICD10 via Orphanet 33 Q87.2

Summaries for Parkes Weber Syndrome

NIH Rare Diseases : 49 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 klippel-trenaunay-weber syndrome 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 : 24 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 : 71 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.

Wikipedia : 72 Parkes Weber syndrome (PWS) is a congenital disorder of the vascular system. It is an extremely rare... more...

Description from OMIM: 608355

Related Diseases for Parkes Weber Syndrome

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 klippel-trenaunay-weber syndrome 11.1
2 capillary malformation-arteriovenous malformation 11.1
3 weber syndrome 10.7
4 arteriovenous fistula 10.2
5 aneurysm 10.2
6 arteriovenous malformation 10.1
7 pulmonary hypertension 9.9
8 disseminated intravascular coagulation 9.9
9 poems syndrome 9.9
10 nodular nonsuppurative panniculitis 9.9
11 panniculitis 9.9
12 congenital short femur 9.9
13 vein of galen aneurysm 9.9
14 femoral agenesis/hypoplasia 9.9
15 lower limb hypertrophy 9.9

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



Diseases related to Parkes Weber Syndrome

Symptoms & Phenotypes for Parkes Weber Syndrome

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Vascular:
arteriovenous malformations
arteriovenous fistulas

Skin Nails Hair Skin:
capillary stain of varying size, shape, and color (port-wine stain)

Skeletal Limbs:
bony hypertrophy

Muscle Soft Tissue:
soft tissue hypertrophy


Clinical features from OMIM:

608355

Human phenotypes related to Parkes Weber Syndrome:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 headache 55 31 occasional (7.5%) Occasional (29-5%) HP:0002315
2 hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001269
3 abnormal bleeding 55 31 hallmark (90%) Very frequent (99-80%) HP:0001892
4 congestive heart failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001635
5 telangiectasia of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0100585
6 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
7 varicose veins 55 31 frequent (33%) Frequent (79-30%) HP:0002619
8 nevus flammeus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001052
9 peripheral arteriovenous fistula 55 31 hallmark (90%) Very frequent (99-80%) HP:0100784
10 hypertrophy of the upper limb 55 31 hallmark (90%) Very frequent (99-80%) HP:0010484
11 hypertrophy of the lower limb 55 31 hallmark (90%) Very frequent (99-80%) HP:0010496
12 vascular skin abnormality 55 Occasional (29-5%)

Drugs & Therapeutics for Parkes Weber Syndrome

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

(show all 32)
# 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 46835353 6436030 5284616
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 Angiogenesis Inhibitors Phase 2
15 Angiogenesis Modulating Agents Phase 2
16 Anticonvulsants Phase 1, Phase 2
17
Timolol Approved Phase 1 26839-75-8 5478 33624
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 Endothelial Growth Factors
31 Mitogens
32 GTPase-Activating Proteins

Interventional clinical trials:

(show all 18)

# Name Status NCT ID Phase Drugs
1 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
2 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Recruiting NCT03047980 Phase 2, Phase 3 Sirolimus
3 Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome Completed NCT02080624 Phase 2 Drug: Topical Rapamycin
4 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
5 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2 Cannabidiol
6 Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS) Withdrawn NCT01997255 Phase 2 Everolimus
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 Timolol;Preservative free artificial tear gel.
9 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Unknown status NCT01761981
10 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
11 Biomarker Development in Sturge-Weber Syndrome Completed NCT01345305
12 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
13 Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Recruiting NCT01425944
14 Immunmodulation in Patients With HHT Recruiting NCT02983253
15 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
16 Lymphatic Anomalies Registry Recruiting NCT02399527
17 French National Cohort of Children With Port Wine Stain Active, not recruiting NCT01364857
18 Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT02690246

Search NIH Clinical Center for Parkes Weber Syndrome

Genetic Tests for Parkes Weber Syndrome

Genetic tests related to Parkes Weber Syndrome:

# Genetic test Affiliating Genes
1 Parkes Weber Syndrome 28 RASA1

Anatomical Context for Parkes Weber Syndrome

MalaCards organs/tissues related to Parkes Weber Syndrome:

38
Heart, Skin, Bone, Eye, Endothelial

Publications for Parkes Weber Syndrome

Articles related to Parkes Weber Syndrome:

(show all 38)
# Title Authors Year
1
Giant popliteal vein aneurysm in Parkes-Weber syndrome. ( 29162342 )
2017
2
Spinal Arteriovenous Malformation Associated with Parkes Weber Syndrome: Report of Two Cases and Literature Review. ( 28645597 )
2017
3
Nodular Proliferation in Parkes Weber Syndrome. ( 27575310 )
2016
4
Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review. ( 27511883 )
2016
5
A rare case of worsening of Parkes-Weber syndrome with development of POEMS syndrome. ( 27649853 )
2016
6
Pulmonary hypertension associated with Parkes-Weber syndrome (a rare congenital arteriovenous malformation). ( 27707981 )
2016
7
Combined surgical and endovascular treatment of complex high-flow conus medullaris arteriovenous fistula associated with Parkes Weber syndrome: case report. ( 27015132 )
2016
8
Chronic foot ulcer caused by Parkes Weber syndrome. ( 27197605 )
2016
9
Unusual Case of Parkes Weber Syndrome with Aneurysm of the Left Common Iliac Vein and Thrombus in Inferior Vena Cava. ( 26122423 )
2015
10
Rat Model of Parkes Weber Syndrome. ( 26217941 )
2015
11
Parkes Weber syndrome: a case of right lower limb hypertrophy. ( 26471502 )
2015
12
Parkes weber syndrome involving right lower limb: a case report. ( 25972672 )
2015
13
Parkes-Weber syndrome. ( 25553944 )
2015
14
Giant arteriovenous fistula in Parkes Weber syndrome. ( 24970657 )
2014
15
Images in clinical medicine. Parkes Weber syndrome. ( 25427114 )
2014
16
Parkes-Weber Syndrome. ( 24985249 )
2014
17
Distinctive features of stump volume change in a fresh lower limb amputee with Parkes-Weber syndrome. ( 25336554 )
2014
18
Stewart-bluefarb acroangiodermatitis in a case of parkes-weber syndrome. ( 25071266 )
2014
19
Diagnosis and treatment of Parkes Weber syndrome: a review of 10 consecutive patients. ( 23880459 )
2013
20
Challenges in orthopaedic management of Parkes-Weber syndrome. ( 23606384 )
2013
21
Parkes weber syndrome and spinal arteriovenous malformations. ( 23928137 )
2013
22
Parkes-Weber syndrome and giant superficial femoral artery aneurysm. Treatment by endovascular therapy and follow-up of 8 years. ( 21183311 )
2011
23
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
24
Parkes-Weber syndrome associated with a congenital short femur of the affected limb. ( 18835518 )
2009
25
Images in vascular medicine. Parkes Weber syndrome: bone involvement visualized by computed tomography angiography. ( 19144783 )
2009
26
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. ( 18446851 )
2008
27
Successful obstetrical management of a woman with Parkes-Weber syndrome. ( 18439741 )
2008
28
Parkes Weber syndrome occurring in a family with capillary malformations. ( 17551330 )
2007
29
Klippel trenaunay Parkes-Weber syndrome. ( 17642585 )
2004
30
Images in cardiovascular medicine. Multimodality imaging of hemangiectasia hypertrophicans (Klippel-Trenaunay-Parkes-Weber syndrome). ( 15353513 )
2004
31
Hemodynamic observations in a newborn with Parkes-Weber syndrome. ( 10190931 )
1999
32
Multiple spinal perimedullary arteriovenous fistulae associated with the parkes-weber syndrome. A case report. ( 20673403 )
1998
33
Lower leg fracture with Parkes-Weber syndrome complicated by disseminated intravascular coagulation. ( 8537852 )
1995
34
A case of the Klippel-Trenaunay-Parkes Weber syndrome. ( 50699 )
1975
35
Klippel-Trenaunay-Parkes-Weber Syndrome. ( 5732668 )
1968
36
The Klippel-Trenaunay-Parkes Weber syndrome. ( 5231804 )
1966
37
Hemangiectatic hypertrophy (Parkes Weber Syndrome). ( 15411239 )
1950
38
Nodular nonsuppurative panniculitis; Parkes-Weber syndrome. ( 18098648 )
1948

Variations for Parkes Weber Syndrome

ClinVar genetic disease variations for Parkes Weber Syndrome:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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