Phenotypes associated with the disease myopathy, tubular aggregate, 1 (OMIM:160565, an entry in Online Mendelian Inheritance in Man):
- Type 2 muscle fiber atrophy (HP:0003554, a Human Phenotype Ontology term): Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. Evidence: PCS. Frequency: 18/19. (PMID:23332920;OMIM:160565)
- Elevated circulating creatine kinase activity (HP:0003236, a Human Phenotype Ontology term): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 11/11. (PMID:23332920)
- Nyctalopia (HP:0000662, a Human Phenotype Ontology term): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:160565)
- Muscle stiffness (HP:0003552, a Human Phenotype Ontology term): A condition in which muscles cannot be moved quickly without accompanying pain or spasm. Evidence: TAS. (OMIM:160565)
- Myopathy (HP:0003198, a Human Phenotype Ontology term): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. (OMIM:160565)
- Flexion contracture (HP:0001371, a Human Phenotype Ontology term): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:160565)
- Muscle spasm (HP:0003394, a Human Phenotype Ontology term): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. (OMIM:160565)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 5/11. (PMID:23332920)
- Difficulty running (HP:0009046, a Human Phenotype Ontology term): Reduced ability to run. Evidence: TAS. (OMIM:160565)
- Weakness of the intrinsic hand muscles (HP:0009005, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:160565)
- Abnormal pupil morphology (HP:0000615, a Human Phenotype Ontology term): An abnormality of the pupil. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:160565)
- Type 1 muscle fiber predominance (HP:0003803, a Human Phenotype Ontology term): An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). Evidence: PCS. Frequency: 6/9. (PMID:23332920)
- Proximal amyotrophy (HP:0007126, a Human Phenotype Ontology term): Amyotrophy (muscular atrophy) affecting the proximal musculature. Evidence: TAS. (OMIM:160565)
- Proximal muscle weakness (HP:0003701, a Human Phenotype Ontology term): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 8/11. (PMID:23332920)
- Frequent falls (HP:0002359, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:160565)
- 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. Frequency: 2/11. (PMID:23332920)
- Easy fatigability (HP:0003388, a Human Phenotype Ontology term): Increased susceptibility to fatigue. Evidence: TAS. (OMIM:160565)
- Adult onset (HP:0003581, a Human Phenotype Ontology term): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: TAS. Frequency: 4/11. (OMIM:160565)
- Respiratory insufficiency (HP:0002093, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:160565)
- Joint contracture (HP:0034392, a Human Phenotype Ontology term): A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. Evidence: PCS. Frequency: 6/11. (PMID:23332920)
- Exercise-induced myalgia (HP:0003738, a Human Phenotype Ontology term): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: TAS. (OMIM:160565)
- Slowly progressive (HP:0003677, a Human Phenotype Ontology term): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: TAS. (OMIM:160565)
- 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:23332920)
- Areflexia of lower limbs (HP:0002522, a Human Phenotype Ontology term): Inability to elicit tendon reflexes in the lower limbs. Evidence: TAS. (OMIM:160565)
- Increased variability in muscle fiber diameter (HP:0003557, a Human Phenotype Ontology term): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: TAS. Frequency: 4/9. (OMIM:160565)
- Hyporeflexia of lower limbs (HP:0002600, a Human Phenotype Ontology term): Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. Evidence: TAS. (OMIM:160565)
- External ophthalmoplegia (HP:0000544, a Human Phenotype Ontology term): Paralysis of the external ocular muscles. Evidence: PCS. Frequency: 2/11. (PMID:23332920)