CEREBRAL CAVERNOUS MALFORMATIONS 3

General Information (adopted from Orphanet):

Synonyms, Signs: CCM3
Number of Symptoms 5
OrphanetNr:
OMIM Id: 603285
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002315) Headache frequent [HPO:skoehler] 175 / 7739
2
(HPO:0003470) Paralysis frequent [HPO:skoehler] 11 / 7739
3
(HPO:0001250) Seizures frequent [HPO:skoehler] 1245 / 7739
4
(HPO:0001342) Cerebral hemorrhage frequent [HPO:skoehler] 24 / 7739
5
(HPO:0002060) Abnormality of the cerebrum obligate [HPO:skoehler] 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Denier et al. (2006) compared the clinical features of mutation carriers from 86 families with CCM1, 25 families with CCM2 (603284), and 17 families with CCM3, ascertained from academic medical centers in France. Of the 3 groups, CCM3 ...
Molecular genetics OMIM Bergametti et al. (2005) reported the identification of the PDCD10 gene (609118) as the CCM3 gene. The CCM3 locus had been mapped to 3q26-q27 within a 22-cM interval bracketed by D3S1763 and D3S1262. They hypothesized that genomic deletions ...