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Familial cerebral cavernous malformation MeSH Supplementary Concept Data 2022


MeSH Supplementary
Familial cerebral cavernous malformation
Unique ID
C536610
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536610
Entry Term(s)
Familial cavernous hemangioma
Familial cerebral cavernous angioma
Registry Number
0
Heading Mapped to
*Hemangioma, Cavernous, Central Nervous System
Frequency
48
Note
Hereditary autosomal dominant cavernous hemangiomas of the central nervous system that are distinct from INTRACRANIAL ARTERIOVENOUS MALFORMATIONS and are angiographically silent. The hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of CAPILLARY ENDOTHELIUM and develop shortly after birth. Mutations in the KRIT1 (CCM1) gene have been identified. OMIM: 116860
Date of Entry
2010/08/25
Revision Date
2015/09/26
Familial cerebral cavernous malformation Preferred
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