Cerebral cavernous malformations
| Disorder | |
|---|---|
| OMIM #: | #116860 (Click to access OMIM database) |
| Disorder: | Cerebral cavernous malformations |
| Also known as: | CCM CAVERNOUS ANGIOMA, FAMILIAL CAVERNOUS ANGIOMATOUS MALFORMATIONS (CAM) CEREBRAL CAPILLARY MALFORMATIONS |
| Clinical | |
| Phenotype: | intercranial sinusoidal vessel (cavernous) malformations, intercranial hemorrhage, neurologic dysfunction, retinal vascular malformations, hepatic vascular malformations, other vascular malformations |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | KRIT1 |
| Base Change: | G>C, at nucleotide 47 |
| Amino Acid Change: | arg 16 --> pro |
| Last updated: | 2022-12-07 |
| References |
|---|
| Personal communication; seen at CSC. |
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