Phenotypes associated with the disease autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome (OMIM:611773):
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 14/14. (PMID:19949034)
- Supraventricular arrhythmia (HP:0005115): A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. Evidence: PCS. Frequency: 5/14. (PMID:19949034)
- Retinal hemorrhage (HP:0000573): Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage. Evidence: TAS. (OMIM:611773)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: PCS. Frequency: 5/14. (PMID:19949034)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: PCS. Frequency: 7/14. (PMID:19949034)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: PCS. Frequency: 14/14. (PMID:19949034)
- Raynaud phenomenon (HP:0030880). Evidence: PCS. Frequency: 6/14. (PMID:19949034)
- Lacunar stroke (HP:0032325): A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain. Evidence: PCS. Frequency: 4/9. (PMID:19949034)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: PCS. Frequency: 4/14. (PMID:19949034)
- Abnormal periventricular white matter morphology (HP:0002518): A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. Evidence: PCS. Frequency: 5/9. (PMID:19949034)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: PCS. Frequency: 5/9. (PMID:19949034)
- Retinal arteriolar tortuosity (HP:0001136): The presence of an increased number of twists and turns of the retinal arterioles. Evidence: PCS. Frequency: 14/14. (PMID:19949034)
- 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:18160688)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/14. (PMID:19949034)