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Familial cerebral cavernous malformation

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
Also Known As:
Familial cavernous hemangioma; Familial cerebral cavernous angioma
Networked: 7 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Hereditary Hemorrhagic Telangiectasia
2. Hemorrhage
3. Cerebral Hemorrhage
4. Arteriovenous Malformations (Arteriovenous Malformation)

Experts

1. Li, Yan: 2 articles (06/2022 - 04/2017)
2. Marchuk, Douglas A: 2 articles (06/2022 - 01/2021)
3. Awad, Issam A: 1 article (06/2022)
4. Bi, Dehua: 1 article (06/2022)
5. Carrión-Penagos, Julián: 1 article (06/2022)
6. Chen, Chang: 1 article (06/2022)
7. Ginsberg, Mark H: 1 article (06/2022)
8. Girard, Romuald: 1 article (06/2022)
9. Hobson, Nick: 1 article (06/2022)
10. Ji, Yuan: 1 article (06/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial cerebral cavernous malformation:
1. Propranolol (Inderal)FDA LinkGeneric
2. MicroRNAs (MicroRNA)IBA
3. Nonsense Codon (Nonsense Mutation)IBA
4. Biomarkers (Surrogate Marker)IBA
5. Proteins (Proteins, Gene)FDA Link
6. Genetic Markers (Genetic Marker)IBA
7. DNA (Deoxyribonucleic Acid)IBA

Therapies and Procedures

1. Therapeutics
2. Genomic Medicine