MCID: PRK003
MIFTS: 31

Parkes Weber Syndrome malady

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

Summaries for Parkes Weber Syndrome

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NIH Rare Diseases:41 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 parkes-weber syndrome, is related to weber syndrome and arteriovenous fistula, and has symptoms including abnormality of coagulation, muscle hypertrophy and lower limb asymmetry. 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:45 608355

Aliases & Classifications for Parkes Weber Syndrome

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Sources:
45OMIM, 41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

Parkes Weber Syndrome, Aliases & Descriptions:

Name: Parkes Weber Syndrome 45 41 21 47
Parkes-Weber Syndrome 21 22
 
Pkws 41 21
Cutaneous Flush with Underlying Multiple Micro Arteriovenous Fistulas, Soft Tissue and Skeletal Hypertrophy of the Affected Limb 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
parkes weber syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 608355
Orphanet47 90307
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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1weber syndrome10.9
2arteriovenous fistula10.5
3parkes weber syndrome, rasa1-related10.5
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:

 47 (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:

31
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 25)
idTitleAuthorsYear
1
Parkes-Weber syndrome. (25553944)
2015
2
Images in clinical medicine. Parkes Weber syndrome. (25427114)
2014
3
Parkes-Weber Syndrome. (24985249)
2014
4
Giant arteriovenous fistula in Parkes Weber syndrome. (24970657)
2014
5
Stewart-bluefarb acroangiodermatitis in a case of parkes-weber syndrome. (25071266)
2014
6
Diagnosis and treatment of Parkes Weber syndrome: a review of 10 consecutive patients. (23880459)
2013
7
Parkes weber syndrome and spinal arteriovenous malformations. (23928137)
2013
8
Challenges in orthopaedic management of Parkes-Weber syndrome. (23606384)
2013
9
Parkes-Weber syndrome and giant superficial femoral artery aneurysm. Treatment by endovascular therapy and follow-up of 8 years. (21183311)
2011
10
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
11
Parkes-Weber syndrome associated with a congenital short femur of the affected limb. (18835518)
2009
12
Images in vascular medicine. Parkes Weber syndrome: bone involvement visualized by computed tomography angiography. (19144783)
2009
13
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. (18446851)
2008
14
Successful obstetrical management of a woman with Parkes-Weber syndrome. (18439741)
2008
15
Parkes Weber syndrome occurring in a family with capillary malformations. (17551330)
2007
16
Images in cardiovascular medicine. Multimodality imaging of hemangiectasia hypertrophicans (Klippel-Trenaunay-Parkes-Weber syndrome). (15353513)
2004
17
Klippel trenaunay Parkes-Weber syndrome. (17642585)
2004
18
Hemodynamic observations in a newborn with Parkes-Weber syndrome. (10190931)
1999
19
Multiple spinal perimedullary arteriovenous fistulae associated with the parkes-weber syndrome. A case report. (20673403)
1998
20
Lower leg fracture with Parkes-Weber syndrome complicated by disseminated intravascular coagulation. (8537852)
1995
21
A case of the Klippel-Trenaunay-Parkes Weber syndrome. (50699)
1975
22
Klippel-Trenaunay-Parkes-Weber Syndrome. (5732668)
1968
23
The Klippel-Trenaunay-Parkes Weber syndrome. (5231804)
1966
24
Hemangiectatic hypertrophy (Parkes Weber Syndrome). (15411239)
1950
25
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 Variation Type Significance SNP ID Assembly Location
1RASA1RASA1, 2-BP DEL, 475CTdeletionPathogenic

Expression for genes affiliated with Parkes Weber Syndrome

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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
  • Proteins
  • Kits and Assays

Sources for Parkes Weber Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet