CEREBRAL CAVERNOUS MALFORMATIONS

General Information (adopted from Orphanet):

Synonyms, Signs: CAVERNOUS ANGIOMATOUS MALFORMATIONS
CEREBRAL CAPILLARY MALFORMATIONS CEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED
HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED
CCM1, INCLUDED
CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED
CAVERNOUS ANGIOMA, FAMILIAL
CAM
CCM
Number of Symptoms 12
OrphanetNr:
OMIM Id: 116860
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007797) Retinal vascular malformation 2 / 7739
2
(HPO:0001250) Seizures 1245 / 7739
3
(HPO:0002315) Headache 175 / 7739
4
(HPO:0002514) Cerebral calcification 89 / 7739
5
(HPO:0006576) Hepatic vascular malformations 2 / 7739
6
(HPO:0002170) Intracranial hemorrhage 40 / 7739
7
(OMIM) MRI is best imaging modality to detect lesions 1 / 7739
8
(OMIM) Soft tissue vascular malformations 1 / 7739
9
(OMIM) Angiographically 'silent' 1 / 7739
10
(OMIM) Hyperkeratotic cutaneous vascular lesions 1 / 7739
11
(OMIM) Focal neurologic deficits 5 / 7739
12
(OMIM) Intracranial thin-walled sinusoidal vessel (cavernous) malformations 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Some CCMs are clinically silent, whereas others cause seizures, hemorrhage, or focal neurologic deficit. Identification of these lesions is important because surgical removal of many is relatively easy. Magnetic resonance imaging (MRI) is replacing computerized axial tomography as ...
Molecular genetics OMIM In 12 of 20 pedigrees with cerebral cavernous malformations-1, Laberge-Le Couteulx et al. (1999) identified mutations in the CCM1 gene (see, e.g., 604214.0001) that segregated with the affected phenotype. They suggested that the mutations in the CCM1 gene ...