Phenotypes associated with the disease cerebral amyloid angiopathy, APP-related (OMIM:605714):
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: PCS. Frequency: 4/4. (PMID:16178030)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: PCS. Frequency: 1/4. (PMID:16178030)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/4. (PMID:16178030)
- Cerebral amyloid angiopathy (HP:0011970): Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system. Evidence: PCS. Frequency: 1/1. (PMID:16178030)
- Cerebellar hemorrhage (HP:0011695): Hemorrhage into the parenchyma of the cerebellum. Evidence: PCS. Frequency: 4/4. (PMID:16178030)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 3/4. (PMID:16178030)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: PCS. Frequency: 1/4. (PMID:16178030)
- Tortuous cerebral arteries (HP:0004938): Excessive bending, twisting, and winding of a cerebral artery. Evidence: PCS. (OMIM:605714)
- Recurrent cerebral hemorrhage (HP:0004968): Recurrent bleeding into the parenchyma of the brain. Evidence: PCS. Frequency: 3/4. (PMID:16178030)
- Cerebral ischemia (HP:0002637): Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue. Evidence: PCS. (PMID:16178030)
- 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:16178030)
- Subarachnoid hemorrhage (HP:0002138): Hemorrhage occurring between the arachnoid mater and the pia mater. Evidence: PCS. Frequency: 1/4. (PMID:16178030)