PKWS
MCID: PRK003
MIFTS: 29

Parkes Weber Syndrome (PKWS) malady

Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Parkes Weber Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Parkes Weber Syndrome, also known as PKWS, is related to klippel-trenaunay syndrome and arteriovenous fistula, and has symptoms including hemiplegia/diplegia/hemiparesia/limb palsy, facial pain/cephalalgia/migraine and heart/cardiac failure. 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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42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

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


External Ids:

SNOMED-CT via Orphanet57 59078009
OMIM46 608355
ICD10 via Orphanet26 Q87.2

Related Diseases for Parkes Weber Syndrome

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17GeneCards, 18GeneDecks
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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
1klippel-trenaunay syndrome10.5
2arteriovenous fistula10.3
3image syndrome10.3
4parkes weber syndrome, rasa1-related10.3
5nodular nonsuppurative panniculitis10.2
6arteriovenous malformation10.2
7disseminated intravascular coagulation10.2
8panniculitis10.2

Graphical network of diseases related to Parkes Weber Syndrome:



Diseases related to parkes weber syndrome

Clinical Features for Parkes Weber Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

608355

Symptoms:

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

Drugs & Therapeutics for Parkes Weber Syndrome

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5CenterWatch, 41NIH 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

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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

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32MalaCards
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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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Genetic Variations for Parkes Weber Syndrome

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Expression for genes affiliated with Parkes Weber Syndrome

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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

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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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet