Capillary Malformations malady

Wikipedia: A port-wine stain or nevus flammeus is a vascular anomaly consisting of superficial and deep dilated...⁴⁴ more...

MalaCards: Capillary Malformations is related to arrhythmogenic right ventricular dysplasia/cardiomyopathy multi-gene panels and klippel-trenaunay syndrome. An important gene associated with Capillary Malformations is CMAL (Capillary malformations, hereditary), and among its related pathways are G-protein signaling_Rap1A regulation pathway and G-protein signaling Rap1A regulation pathway. The compound phenylalanine have been mentioned in the context of this disorder. Affiliated tissues include skin.

capillary malformations 7

Diseases related to capillary malformations by text searches and GeneDecks gene sharing:

(show all 13)

id	Related Disease	Score	Top Affiliating Genes
1	arrhythmogenic right ventricular dysplasia/cardiomyopathy multi-gene panels	12.3	NAA10, KRIT1
2	klippel-trenaunay syndrome	12.0	RASA1, KRIT1
3	capillary malformation-arteriovenous malformation	8.9
4	macrocephaly-capillary malformation	8.2
5	hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations	7.9
6	arteriovenous malformation	7.0
7	capillary malformations, hereditary	7.0
8	cerebritis	7.0
9	overgrowth syndrome	6.1
10	phacomatosis pigmentovascularis	6.1
11	parkes weber syndrome	6.1
12	stork bite	6.1
13	venous malformations	6.1

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to capillary malformations:

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Articles related to capillary malformations:

id	Title	Authors	Year	Affiliating Genes
1	A novel mutation in RASA1 causes capillary malformation and limb enlargement. (18327598)	Hershkovitz D.... Sprecher E.	2008	RASA1
2	RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. (18363760)	Hershkovitz D.... Lapidot M.	2008	RASA1
3	Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. (14627680)	Brancati F.... Dallapiccola B.	2003	TELAB1
4	Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. (14639529)	Eerola I.... Vikkula M.	2003	RASA1
5	Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q. (12080389)	Eerola I.... Vikkula M.	2002	CMAL
6	Identification of eight novel 5`-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1. (11342228)	Eerola I.... Vikkula M.	2001	KRIT1
7	KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. (10814716)	Eerola I.... Vikkula M.	2000	KRIT1

Genes related to capillary malformations according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CMAL	Capillary malformations, hereditary	11.1	Publications, Aliases & Descriptions
2	RASA1	RAS p21 protein activator (GTPase activating protein) 1	11.1	Publications, Summaries
3	KRIT1	KRIT1, ankyrin repeat containing	11.0	Publications
4	TELAB1	telangiectasia, benign 1	11.0	Publications
5	NAA10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	11.0

Pathways related to capillary malformations according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	G-protein signaling_Rap1A regulation pathway41	9.3	RASA1, KRIT1
2	G-protein signaling Rap1A regulation pathway10	9.0	RASA1, KRIT1

Compounds related to capillary malformations according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	phenylalanine32	9.3	RASA1, KRIT1