Hereditary cerebral cavernous malformation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Hereditary cerebral cavernoma Familial cerebral cavernous malformation Familial cerebral cavernoma |
| Number of Symptoms | 11 |
| OrphanetNr: | 221061 |
| OMIM Id: |
116860
603284 603285 |
| ICD-10: |
D18.0 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Capillary malformation
-Rare circulatory system disease -Rare developmental defect during embryogenesis Genetic neurovascular malformation -Rare genetic disease Genetic vascular anomaly -Rare genetic disease Neurovascular malformation -Rare circulatory system disease -Rare developmental defect during embryogenesis -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0007797) | Retinal vascular malformation | 2 / 7739 | ||||
|
|
(HPO:0002315) | Headache | 175 / 7739 | ||||
|
|
(HPO:0001250) | Seizures | 1245 / 7739 | ||||
|
|
(HPO:0002514) | Cerebral calcification | 89 / 7739 | ||||
|
|
(HPO:0006576) | Hepatic vascular malformations | 2 / 7739 | ||||
|
|
(HPO:0000951) | Abnormality of the skin | 147 / 7739 | ||||
|
|
(HPO:0002170) | Intracranial hemorrhage | 40 / 7739 | ||||
|
|
(HPO:0003011) | Abnormality of the musculature | 47 / 7739 | ||||
|
|
(HPO:0003829) | Incomplete penetrance | 85 / 7739 | ||||
|
|
(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|