Parkes Weber Syndrome malady

NIH Rare Diseases: 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.³⁰

MalaCards: Parkes Weber Syndrome, also known as PKWS, is related to sturge-weber syndrome and parkes weber syndrome, rasa1-related. 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: 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.¹⁷

parkes weber syndrome 7 30 17 pkws 30 17

cutaneous flush with underlying multiple micro arteriovenous fistulas, soft tissue and skeletal hypertrophy of the affected limb 30 weber syndrome 43

Diseases related to parkes weber syndrome by text searches and GeneDecks gene sharing:

(show all 14)

id	Related Disease	Score	Top Affiliating Genes
1	sturge-weber syndrome	9.5
2	parkes weber syndrome, rasa1-related	8.0
3	klippel-trenaunay syndrome	7.7
4	vein of galen aneurysm	7.1
5	weber syndrome	7.1
6	carcinoma	5.9
7	glaucoma	5.9
8	heterochromia iridis	5.9
9	mental retardation mietens weber type	5.9
10	moyamoya disease	5.9
11	overgrowth syndrome	5.9
12	retinal detachment	5.9
13	retinitis	5.9
14	acvrl1-related hereditary hemorrhagic telangiectasia	5.9

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to parkes weber syndrome:

²²

Articles related to parkes weber syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. (18446851)	Revencu N.... Vikkula M.	2008	RASA1

Genes related to parkes weber syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	RASA1	RAS p21 protein activator (GTPase activating protein) 1	11.1	Publications, Disorders, Summaries