KEGG DISEASE: Cerebral cavernous malformation

KEGG

DISEASE: Cerebral cavernous malformation

Entry

H00534                      Disease

Name

Cerebral cavernous malformation

Description

Cerebral cavernous malformations (CCM) are vascular malformations of the central nervous system comprising enlarged caverns with a single layer of endothelium, which easily lead to cerebral hemorrhages. The disease present as either sporadic or autosomal dominant conditions and is linked to three genes KRIT1, MGC4607, and PDCD10. Mutations in KRIT1 impair its interaction with ICAP-1 alpha, and influence beta 1 integrin-dependent angiogenesis.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Cerebrovascular diseases
   8B22  Certain specified cerebrovascular diseases
    H00534  Cerebral cavernous malformation
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06530  PI3K signaling
   H00534  Cerebral cavernous malformation

Pathway

PI3K-Akt signaling pathway

Network

nt06530 PI3K signaling

Gene

(CCM1) KRIT1 [HSA:889] [KO:K17705]
(CCM2) MGC4607 [HSA:83605] [KO:K26416]
(CCM3) PDCD10 [HSA:11235] [KO:K18269]
(CCM4) PIK3CA [HSA:5290] [KO:K00922]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

116860 603284 603285 619538

Reference

Authors

Brouillard P, Vikkula M

Title

Genetic causes of vascular malformations.

Journal

Hum Mol Genet 16 Spec No. 2:R140-9 (2007)
DOI:10.1093/hmg/ddm211

Reference

PMID:16379592 (CCM1,2,3)

Authors

Wang QK

Title

Update on the molecular genetics of vascular anomalies.

Journal

Lymphat Res Biol 3:226-33 (2005)
DOI:10.1089/lrb.2005.3.226

Reference

PMID:34496175 (CCM4)

Authors

Peyre M, Miyagishima D, Bielle F, Chapon F, Sierant M, Venot Q, Lerond J, Marijon P, Abi-Jaoude S, Le Van T, Labreche K, Houlston R, Faisant M, Clemenceau S, Boch AL, Nouet A, Carpentier A, Boetto J, Louvi A, Kalamarides M

Title

Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.

Journal

N Engl J Med 385:996-1004 (2021)
DOI:10.1056/NEJMoa2100440

LinkDB

» Japanese version

DBGET integrated database retrieval system