Phenotypes associated with the disease cerebral cavernous malformation 3 (OMIM:603285, an entry in Online Mendelian Inheritance in Man):
- Cerebral hemorrhage (HP:0001342, a Human Phenotype Ontology term): Hemorrhage into the parenchyma of the brain. Evidence: PCS. Frequency: 15/28. (PMID:17041941)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:17041941)
- Seizure (HP:0001250, a Human Phenotype Ontology term): 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: PCS. Frequency: 10/28. (PMID:17041941)
- Paralysis (HP:0003470, a Human Phenotype Ontology term): Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. Evidence: IEA. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (OMIM:603285)
- Cerebral cavernous malformation (HP:0033522, a Human Phenotype Ontology term): 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:17041941)
- Headache (HP:0002315, a Human Phenotype Ontology term): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (PMID:17041941)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:17041941)