Cerebral cavernous malformations

Preferred Label : Cerebral cavernous malformations;

Symbol : CCM;

CISMeF acronym : CAM; CCM; CCM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cavernous angioma, familial; Cavernous angiomatous malformations; Cerebral capillary malformations; CAM;

Included titles and symbols : Cerebral cavernous malformations 1; Cavernous malformations of cns and retina; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations; CCM1;

Description : Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Cerebral cavernous angiomas are to be distinguished from cerebral arteriovenous malformations (106070, 108010). CCMs are venous and not demonstrable by arteriography; hence they are referred to as angiographically silent. Capillary hemangiomas (602089) are classified as distinct from vascular malformations in that hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. Hemangiomas develop shortly after birth. In contrast, vascular malformations are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Mulliken and Young, 1988). - Genetic Heterogeneity of CCM CCM2 (603284) is caused by mutation in the CCM2/malcavernin gene (607929), and CCM3 (603285) is caused by mutation in the PDCD10 gene (609118). Evidence suggests that a 2-hit mechanism involving biallelic germline and somatic mutations is responsible for CCM1 pathogenesis, see;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Krev interaction trapped 1 gene (KRIT1 604214.0001).;

Prefixed ID : #116860;

Details

Origin ID

116860;

UMLS CUI

C2919945;

Automatic exact mappings (from CISMeF team)
- AML Concomitant Medication Table [NCIt concept]
- CALM1 wt Allele [NCIt concept]
- CMC Regimen [NCIt concept]
- Cerebral cavernous malformation [ICD-11 Sub-sub category]
- Cerebral cavernous malformation [MedDRA Preferred Term]
- Cerebral cavernous malformation [HPO term]
- Cham language (qualifier value) [SNOMED CT concept]
- Computer-Aided manufacturing [MeSH concept]
- Dilated cardiomyopathy [ICD-11 Subcategory]
- KRIT1 ankyrin repeat containing [ORDO Gene]
- Racial Melanosis [NCIt concept]
- carcinoma, merkel cell [MeSH Descriptor]
- cavernous malformations of CNS and retina [MeSH concept]
- cavernous malformations of CNS and retina [MeSH Supplementary Concept]
- cerebral cavernous malformation 1 [DO Concept]
- hyperkeratotic cutaneous Capillary-Venous malformations associated with cerebral capillary malformations [MeSH concept]
- hyperkeratotic cutaneous Capillary-Venous malformations associated with cerebral capillary malformations [MeSH Supplementary Concept]
- thin-layer chromatography [IUPAC Term]
Currated CISMeF NLP mapping
- Cerebral Cavernous Malformation [NCIt concept]
- Cerebral cavernous malformation [MedDRA LLT]
- Cerebral cavernous malformations [ORDO Disease]
- cavernous hemangioma of brain [MeSH concept]
- cerebral cavernous malformation [DO Concept]
- cerebral cavernous malformation [Disease (Nov.)]
DO Cross reference
- cerebral cavernous malformation 1 [DO Concept]
False automatic mappings
- Calmodulin [NCIt concept]
- Cell Adhesion Molecule [NCIt concept]
- Cell adhesion molecule [FMA entity]
- Cerebrofacial arteriovenous metameric syndrome [ORDO Disease]
- Complementary and Alternative Medicine [NCIt concept]
- Confusion Assessment Method (CAM) [LOINC component]
- Crassulacean Acid Metabolism [MeSH Descriptor]
- Cyclophosphamide/Doxorubicin/Methotrexate [NCIt concept]
- Cytarabine/Methotrexate [NCIt concept]
- KRIT1 wt Allele [NCIt concept]
- Krev Interaction Trapped Protein 1 [NCIt concept]
- complementary and integrative medicine [MedlinePlus Topic]
- complementary therapies [MeSH Descriptor]
Genes related to phenotype
- Krit1 ankyrin repeat-containing protein 1 [OMIM gene]
HPO term(s)
- Abnormality of the musculature [HPO term]
- Abnormality of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral calcification [HPO term]
- Cerebral cavernous malformation [HPO term]
- Headache [HPO term]
- Hepatic vascular malformations [HPO term]
- Incomplete penetrance [HPO term]
- Intracranial hemorrhage [HPO term]
- Retinal vascular malformation [HPO term]
- Seizure [HPO term]
Matching ORDO disease(s)
- Cerebral cavernous malformations [ORDO Disease]
ORDO concept(s)
- Familial cerebral cavernous malformation [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Cavernous hemangioma of brain (disorder) [SNOMED CT concept]
- Cerebral Cavernous Malformation [NCIt concept]
- Cerebral cavernous malformation [MedDRA LLT]
- Cerebral cavernous malformation [MedDRA Preferred Term]
- Cerebral cavernous malformation [HPO term]
- Cerebral cavernous malformations [ORDO Disease]
- cavernous hemangioma of brain [MeSH concept]
- cerebral cavernous malformation [DO Concept]
- cerebral cavernous malformation [Disease (Nov.)]
Validated automatic mappings to NTBT
- hemangioma, cavernous, central nervous system [MeSH Descriptor]

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