CEREBRAL CAVERNOUS MALFORMATIONS 2

General Information (adopted from Orphanet):

Synonyms, Signs: CCM2
Number of Symptoms 8
OrphanetNr:
OMIM Id: 603284
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001250) Seizures 1245 / 7739
2
(HPO:0002315) Headache 175 / 7739
3
(HPO:0001009) Telangiectasia 46 / 7739
4
(HPO:0001297) Stroke 44 / 7739
5
(OMIM) Hemorrhagic stroke 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Cerebral cavernous malformations 1 / 7739
8
(OMIM) Palmar telangiectasias (described in 1 family) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ahdab et al. (2008) reported 2 sibs with CCM2 confirmed by genetic analysis. The 57-year-old proband presented with generalized tonic-clonic seizures and status epilepticus. Brain MRI showed multiple rounded gradient echo hypointense signals mainly in the right frontotemporal ...
Molecular genetics OMIM Liquori et al. (2003) sequenced positional candidate genes in the 7p region for mutations in CCM2. One of these genes, the CCM2 gene which they called MGC4607, was chosen because its translation product protein encodes a putative phosphotyrosine-binding ...