KEGG DISEASE: Capillary malformation-arteriovenous malformation

DISEASE: Capillary malformation-arteriovenous malformation

Entry

H02043                      Disease

Name

Capillary malformation-arteriovenous malformation

Description

Capillary malformation-arteriovenous malformation (CMAVM) is an autosomal dominant disorder associated with heterozygous mutations in RASA1. CM-AVM is with multiple CMs on the skin, sometimes in association with AVMs or fistulas (AVF). CMs in this syndrome usually present at birth, and are progressive, round to oval, pink or red, and with a pale halo.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the circulatory system
    LA90  Structural developmental anomalies of the peripheral vascular system
     H02043  Capillary malformation-arteriovenous malformation
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H02043  Capillary malformation-arteriovenous malformation

Pathway

hsa04010

MAPK signaling pathway

Network

nt06526 MAPK signaling

Gene

(CMAVM1) RASA1 [HSA:5921] [KO:K04352]
(CMAVM2) EPHB4 [HSA:2050] [KO:K05113]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:14639529

Authors

Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M

Title

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.

Journal

Am J Hum Genet 73:1240-9 (2003)
DOI:10.1086/379793

Reference

PMID:24168113

Authors

Larralde M, Abad ME, Luna PC, Hoffner MV

Title

Capillary malformation-arteriovenous malformation: a clinical review of 45 patients.

Journal

Int J Dermatol 53:458-61 (2014)
DOI:10.1111/ijd.12040

Reference

PMID:28687708

Authors

Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, Gonzalez-Ensenat MA, Frieden I, Gerard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Leaute-Labreze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M

Title

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Journal

Circulation 136:1037-1048 (2017)
DOI:10.1161/CIRCULATIONAHA.116.026886

LinkDB

» Japanese version

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