PKWS
MCID: PRK003
MIFTS: 35

Parkes Weber Syndrome (PKWS) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Parkes Weber Syndrome

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NIH Rare Diseases:42 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 weber syndrome and arteriovenous fistula, and has symptoms including global upper and lower limbs anomalies, upper limb asymmetry/hemiatrophy/hemihypertrophy and lower limb asymmetry/hemiatrophy/hemihypertrophy. An important gene associated with Parkes Weber Syndrome is RASA1 (RAS p21 protein activator (GTPase activating protein) 1). Affiliated tissues include heart, skin and bone.

Genetics Home Reference:21 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.

Description from OMIM:46 608355

Aliases & Classifications for Parkes Weber Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Parkes Weber Syndrome, Aliases & Descriptions:

Name: Parkes Weber Syndrome 42 22 21 46 48
Pkws 42 21
 
Cutaneous Flush with Underlying Multiple Micro Arteriovenous Fistulas, Soft Tissue and Skeletal Hypertrophy of the Affected Limb 42
Parkes-Weber Syndrome 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
parkes weber syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy


External Ids:

OMIM46 608355
ICD10 via Orphanet26 Q87.2

Related Diseases for Parkes Weber Syndrome

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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 fistula10.5
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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Clinical features from OMIM:

608355

Symptoms:

48 (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 10)
id Description Frequency HPO Source Accession
1 abnormality of coagulation hallmark (90%) HP:0001928
2 muscle hypertrophy hallmark (90%) HP:0003712
3 lower limb asymmetry hallmark (90%) HP:0100559
4 teleangiectasia of the skin hallmark (90%) HP:0100585
5 peripheral arteriovenous fistula hallmark (90%) HP:0100784
6 venous insufficiency typical (50%) HP:0005293
7 glaucoma occasional (7.5%) HP:0000501
8 congestive heart failure occasional (7.5%) HP:0001635
9 migraine occasional (7.5%) HP:0002076
10 hemiplegia/hemiparesis occasional (7.5%) HP:0004374

Drugs & Therapeutics for Parkes Weber Syndrome

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Drug clinical trials:

Search ClinicalTrials for Parkes Weber Syndrome

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 Syndrome22

Anatomical Context for Parkes Weber Syndrome

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MalaCards organs/tissues related to Parkes Weber Syndrome:

32
Heart, Skin, Bone

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 24)
idTitleAuthorsYear
1
Distinctive features of stump volume change in a fresh lower limb amputee with Parkes-Weber syndrome. (25336554)
2014
2
Parkes-Weber Syndrome. (24985249)
2014
3
Giant arteriovenous fistula in Parkes Weber syndrome. (24970657)
2014
4
Stewart-bluefarb acroangiodermatitis in a case of parkes-weber syndrome. (25071266)
2014
5
Diagnosis and treatment of Parkes Weber syndrome: a review of 10 consecutive patients. (23880459)
2013
6
Parkes weber syndrome and spinal arteriovenous malformations. (23928137)
2013
7
Challenges in orthopaedic management of Parkes-Weber syndrome. (23606384)
2013
8
Parkes-Weber syndrome and giant superficial femoral artery aneurysm. Treatment by endovascular therapy and follow-up of 8 years. (21183311)
2011
9
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
10
Parkes-Weber syndrome associated with a congenital short femur of the affected limb. (18835518)
2009
11
Images in vascular medicine. Parkes Weber syndrome: bone involvement visualized by computed tomography angiography. (19144783)
2009
12
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. (18446851)
2008
13
Successful obstetrical management of a woman with Parkes-Weber syndrome. (18439741)
2008
14
Parkes Weber syndrome occurring in a family with capillary malformations. (17551330)
2007
15
Images in cardiovascular medicine. Multimodality imaging of hemangiectasia hypertrophicans (Klippel-Trenaunay-Parkes-Weber syndrome). (15353513)
2004
16
Klippel trenaunay Parkes-Weber syndrome. (17642585)
2004
17
Hemodynamic observations in a newborn with Parkes-Weber syndrome. (10190931)
1999
18
Multiple spinal perimedullary arteriovenous fistulae associated with the parkes-weber syndrome. A case report. (20673403)
1998
19
Lower leg fracture with Parkes-Weber syndrome complicated by disseminated intravascular coagulation. (8537852)
1995
20
A case of the Klippel-Trenaunay-Parkes Weber syndrome. (50699)
1975
21
Klippel-Trenaunay-Parkes-Weber Syndrome. (5732668)
1968
22
The Klippel-Trenaunay-Parkes Weber syndrome. (5231804)
1966
23
Hemangiectatic hypertrophy (Parkes Weber Syndrome). (15411239)
1950
24
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1RASA1RASA1, 2-BP DEL, 475CTdeletionPathogenic

Expression for genes affiliated with Parkes Weber Syndrome

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Expression patterns in normal tissues for genes affiliated with Parkes Weber Syndrome

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

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

Sources for Parkes Weber Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet