PKWS
MCID: PRK003
MIFTS: 34

Parkes Weber Syndrome (PKWS) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Parkes Weber Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Parkes Weber Syndrome, also known as PKWS, is related to weber syndrome and arteriovenous fistula, and has symptoms including upper limb asymmetry/hemiatrophy/hemihypertrophy, global upper and lower limbs anomalies and peripheral arteriovenous fistula. An important gene associated with Parkes Weber Syndrome is RASA1 (RAS p21 protein activator (GTPase activating protein) 1). Affiliated tissues include skin, bone and heart.

Description from OMIM:48 608355

Aliases & Classifications for Parkes Weber Syndrome

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44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
parkes weber syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

parkes weber syndrome 44 23 22 48 50
pkws 44 22
cutaneous flush with underlying multiple micro arteriovenous fistulas, soft tissue and skeletal hypertrophy of the affected limb 44
parkes-weber syndrome 22


External Ids:

SNOMED-CT via Orphanet60 59078009
OMIM48 608355
ICD10 via Orphanet27 Q87.2

Related Diseases for Parkes Weber Syndrome

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18GeneCards, 19GeneDecks
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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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1weber syndrome10.9
2arteriovenous fistula10.4
3parkes weber syndrome, rasa1-related10.4
4aneurysm10.4
5nodular nonsuppurative panniculitis10.2
6arteriovenous malformation10.2
7disseminated intravascular coagulation10.2
8panniculitis10.2
9congenital short femur10.2
10vein of galen aneurysm10.2

Graphical network of diseases related to Parkes Weber Syndrome:



Diseases related to parkes weber syndrome

Symptoms for Parkes Weber Syndrome

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48OMIM, 50Orphanet
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Clinical features from OMIM:

608355

Symptoms:

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

Drugs & Therapeutics for Parkes Weber Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Parkes Weber Syndrome

Drug clinical trials:

Search ClinicalTrials for Parkes Weber Syndrome

Search NIH Clinical Center for Parkes Weber Syndrome

Search CenterWatch for Parkes Weber Syndrome

Genetic Tests for Parkes Weber Syndrome

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23GTR
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Genetic tests related to Parkes Weber Syndrome:

id Genetic test Affiliating Genes
1 Parkes Weber Syndrome23

Anatomical Context for Parkes Weber Syndrome

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34MalaCards
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MalaCards organs/tissues related to Parkes Weber Syndrome:

34
Skin, Bone, Heart

Animal Models for Parkes Weber Syndrome or affiliated genes

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Publications for Parkes Weber Syndrome

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53PubMed
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Articles related to Parkes Weber Syndrome:

(show all 20)
idTitleAuthorsYear
1
Diagnosis and treatment of Parkes Weber syndrome: a review of 10 consecutive patients. (23880459)
2013
2
Parkes weber syndrome and spinal arteriovenous malformations. (23928137)
2013
3
Challenges in orthopaedic management of Parkes-Weber syndrome. (23606384)
2013
4
Parkes-Weber syndrome and giant superficial femoral artery aneurysm. Treatment by endovascular therapy and follow-up of 8 years. (21183311)
2011
5
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
6
Parkes-Weber syndrome associated with a congenital short femur of the affected limb. (18835518)
2009
7
Images in vascular medicine. Parkes Weber syndrome: bone involvement visualized by computed tomography angiography. (19144783)
2009
8
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. (18446851)
2008
9
Successful obstetrical management of a woman with Parkes-Weber syndrome. (18439741)
2008
10
Parkes Weber syndrome occurring in a family with capillary malformations. (17551330)
2007
11
Images in cardiovascular medicine. Multimodality imaging of hemangiectasia hypertrophicans (Klippel-Trenaunay-Parkes-Weber syndrome). (15353513)
2004
12
Klippel trenaunay Parkes-Weber syndrome. (17642585)
2004
13
Hemodynamic observations in a newborn with Parkes-Weber syndrome. (10190931)
1999
14
Multiple spinal perimedullary arteriovenous fistulae associated with the parkes-weber syndrome. A case report. (20673403)
1998
15
Lower leg fracture with Parkes-Weber syndrome complicated by disseminated intravascular coagulation. (8537852)
1995
16
A case of the Klippel-Trenaunay-Parkes Weber syndrome. (50699)
1975
17
Klippel-Trenaunay-Parkes-Weber Syndrome. (5732668)
1968
18
The Klippel-Trenaunay-Parkes Weber syndrome. (5231804)
1966
19
Hemangiectatic hypertrophy (Parkes Weber Syndrome). (15411239)
1950
20
Nodular nonsuppurative panniculitis; Parkes-Weber syndrome. (18098648)
1948

Variations for Parkes Weber Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Parkes Weber Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1RASA1RASA1, 2-BP DEL, 475CTdeletionPathogenic/card/parkes_weber_syndrome

Expression for genes affiliated with Parkes Weber Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Parkes Weber Syndrome

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Pathways for genes affiliated with Parkes Weber Syndrome

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Compounds for genes affiliated with Parkes Weber Syndrome

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GO Terms for genes affiliated with Parkes Weber Syndrome

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Products for genes affiliated with Parkes Weber Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parkes Weber Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet