Phenotypes associated with the disease cerebral cavernous malformation 1 (OMIM:116860):
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:116860)
- Abnormality of the musculature (HP:0003011): Abnormality originating in one or more muscles, i.e., of the set of muscles of body. Evidence: IEA. (OMIM:116860)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: IEA. (OMIM:116860)
- Intracranial hemorrhage (HP:0002170): Hemorrhage occurring within the skull. Evidence: IEA. (OMIM:116860)
- Hepatic vascular malformations (HP:0006576). Evidence: IEA. (OMIM:116860)
- Developmental retinal vascular malformation (HP:0007797): A group of development abnormalities of retinal blood vessels. Evidence: IEA. (OMIM:116860)
- Cerebral cavernous malformation (HP:0033522): A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries. Evidence: PCS. (PMID:10545614)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: IEA. (OMIM:116860)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: IEA. (OMIM:116860)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:10545614)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: IEA. (OMIM:116860)