PKWS
MCID: PRK003
MIFTS: 29

Parkes Weber Syndrome (PKWS) malady

Cardiovascular, Bone, Skin, Fetal categories

Summaries for Parkes Weber Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 klippel-trenaunay syndrome, 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 and skin.

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:47 608355

Aliases & Classifications for Parkes Weber Syndrome

Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Cardiovascular, Bone, Skin


Characteristics (Orphanet epidemiological data):

49
parkes weber syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

parkes weber syndrome 43 22 21 47 49
pkws 43 21
cutaneous flush with underlying multiple micro arteriovenous fistulas, soft tissue and skeletal hypertrophy of the affected limb 43
parkes-weber syndrome 21


External Ids:

OMIM47 608355
ICD10 via Orphanet26 Q87.2

Related Diseases for Parkes Weber Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Parkes Weber Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1weber syndrome10.9
2klippel-trenaunay syndrome10.6
3n syndrome10.4
4image syndrome10.4
5parkes weber syndrome, rasa1-related10.4
6nodular nonsuppurative panniculitis10.2
7arteriovenous malformation10.2
8short syndrome10.2
9congenital short femur10.2
10hypertrophic hemangiectasia10.2

Graphical network of diseases related to Parkes Weber Syndrome:



Diseases related to parkes weber syndrome

Clinical Features for Parkes Weber Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

608355

Symptoms:

49 (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

Drugs & Therapeutics for Parkes Weber Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Parkes Weber Syndrome:

33
Heart, Skin

Animal Models for Parkes Weber Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Parkes Weber Syndrome

Sources:
51PubMed
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Articles related to Parkes Weber Syndrome:

(show all 21)
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
Parkes Weber or Klippel-Trenaunay syndrome? Non-invasive diagnosis with MR projection angiography. (15007616)
2004
14
Hemodynamic observations in a newborn with Parkes-Weber syndrome. (10190931)
1999
15
Multiple spinal perimedullary arteriovenous fistulae associated with the parkes-weber syndrome. A case report. (20673403)
1998
16
Lower leg fracture with Parkes-Weber syndrome complicated by disseminated intravascular coagulation. (8537852)
1995
17
A case of the Klippel-Trenaunay-Parkes Weber syndrome. (50699)
1975
18
Klippel-Trenaunay-Parkes-Weber Syndrome. (5732668)
1968
19
The Klippel-Trenaunay-Parkes Weber syndrome. (5231804)
1966
20
Hemangiectatic hypertrophy (Parkes Weber Syndrome). (15411239)
1950
21
Nodular nonsuppurative panniculitis; Parkes-Weber syndrome. (18098648)
1948

Genetic Variations for Parkes Weber Syndrome

Expression for genes affiliated with Parkes Weber Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Parkes Weber Syndrome

GO Terms for genes affiliated with Parkes Weber Syndrome

Products for genes affiliated with Parkes Weber Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parkes Weber Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet