Phenotypes associated with the disease Bethlem myopathy 1A (OMIM:158810, an entry in Online Mendelian Inheritance in Man):
- Abnormal EKG (HP:0003115, a Human Phenotype Ontology term): Abnormal rhythm of the heart. Evidence: PCS. Frequency: 0/1. (PMID:30808312)
- Congenital hip dislocation (HP:0001374, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 0/1. (PMID:17886299)
- 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: TAS. (OMIM:158810)
- Myopathy (HP:0003198, a Human Phenotype Ontology term): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: IEA. (OMIM:158810)
- Camptodactyly of finger (HP:0100490, a Human Phenotype Ontology term): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. (OMIM:158810)
- Difficulty climbing stairs (HP:0003551, a Human Phenotype Ontology term): Reduced ability to climb stairs. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Distal muscle weakness (HP:0002460, a Human Phenotype Ontology term): Reduced strength of the musculature of the distal extremities. Evidence: PCS. Frequency: 3/4. (PMID:30808312;PMID:17886299)
- Fatty replacement of skeletal muscle (HP:0012548, a Human Phenotype Ontology term): Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Fiber type grouping (HP:0033685, a Human Phenotype Ontology term): An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Macroscopic hematuria (HP:0012587, a Human Phenotype Ontology term): Hematuria that is visible upon inspection of the urine. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Proximal muscle weakness (HP:0003701, a Human Phenotype Ontology term): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 4/4. (PMID:30808312;PMID:17886299)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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: 0/1. (PMID:30808312)
- Skeletal muscle atrophy (HP:0003202, a Human Phenotype Ontology term): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. (OMIM:158810)
- Centrally nucleated skeletal muscle fibers (HP:0003687, a Human Phenotype Ontology term): An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Recurrent urinary tract infections (HP:0000010, a Human Phenotype Ontology term): Repeated infections of the urinary tract. Evidence: PCS. Frequency: 0/1. (PMID:30808312)
- Proteinuria (HP:0000093, a Human Phenotype Ontology term): Increased levels of protein in the urine. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Abnormal cranial nerve physiology (HP:0031910, a Human Phenotype Ontology term): A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. Evidence: PCS. Frequency: 0/1. (PMID:30808312)
- Arthralgia (HP:0002829, a Human Phenotype Ontology term): Joint pain. Evidence: PCS. Frequency: 0/1. (PMID:30808312)
- Knee contracture (HP:0034671, a Human Phenotype Ontology term): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: PCS. Frequency: 0/3. (PMID:17886299)
- Autosomal recessive inheritance (HP:0000007, 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:158810)
- Respiratory insufficiency due to muscle weakness (HP:0002747, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:158810)
- Muscle fiber necrosis (HP:0003713, a Human Phenotype Ontology term): Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- 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:17886299)
- Elbow contracture (HP:0034391, a Human Phenotype Ontology term): A limitation in the passive range of motion of the elbow 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. Evidence: PCS. Frequency: 3/3. (PMID:17886299)
- 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: PCS. (PMID:30808312)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Ankle contracture (HP:0034677, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 3/4. (PMID:30808312;PMID:17886299)
- Finger joint contracture (HP:0034681, a Human Phenotype Ontology term): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: PCS. Frequency: 2/3. (PMID:17886299)
- Difficulty running (HP:0009046, a Human Phenotype Ontology term): Reduced ability to run. Evidence: PCS. Frequency: 1/2. (PMID:30808312;PMID:17886299)
- Abnormality of the cardiovascular system (HP:0001626, a Human Phenotype Ontology term): Any abnormality of the cardiovascular system. Evidence: IEA. (OMIM:158810)
- Axial muscle weakness (HP:0003327, a Human Phenotype Ontology term): Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Follicular hyperkeratosis (HP:0007502, a Human Phenotype Ontology term): A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Shoulder girdle muscle atrophy (HP:0003724, a Human Phenotype Ontology term): Amyotrophy affecting the muscles of the shoulder girdle. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Congenital muscular torticollis (HP:0005988, a Human Phenotype Ontology term): A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. Evidence: IEA. (OMIM:158810)
- Limb-girdle muscle weakness (HP:0003325, a Human Phenotype Ontology term): Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. Evidence: IEA. (OMIM:158810)
- Torticollis (HP:0000473, a Human Phenotype Ontology term): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: TAS. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (OMIM:158810)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/3. (PMID:17886299)
- Pes cavus (HP:0001761, a Human Phenotype Ontology term): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Areflexia (HP:0001284, a Human Phenotype Ontology term): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Mildly elevated creatine kinase (HP:0008180, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/4. (PMID:30808312;PMID:17886299)
- Keratosis pilaris (HP:0032152, a Human Phenotype Ontology term): An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Kyphosis (HP:0002808, a Human Phenotype Ontology term): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 1/3. (PMID:17886299)
- Arthrogryposis multiplex congenita (HP:0002804, a Human Phenotype Ontology term): Multiple congenital contractures in different body areas. Evidence: PCS. Frequency: 0/1. (PMID:17886299)
- Decreased fetal movement (HP:0001558, a Human Phenotype Ontology term): An abnormal reduction in quantity or strength of fetal movements. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Neonatal hypotonia (HP:0001319, a Human Phenotype Ontology term): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: IEA. (OMIM:158810)
- Skin rash (HP:0000988, a Human Phenotype Ontology term): A red eruption of the skin. Evidence: PCS. Frequency: 0/1. (PMID:30808312)
- Tip-toe gait (HP:0030051, a Human Phenotype Ontology term): An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Abnormal nerve conduction velocity (HP:0040129, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 0/1. (PMID:30808312)
- Distal lower limb amyotrophy (HP:0008944, a Human Phenotype Ontology term): Muscular atrophy of distal leg muscles. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- EMG: myopathic abnormalities (HP:0003458, a Human Phenotype Ontology term): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: PCS. Frequency: 1/1. (PMID:30808312)
- Neck muscle weakness (HP:0000467, a Human Phenotype Ontology term): Decreased strength of the neck musculature. Evidence: PCS. Frequency: 1/1. (PMID:30808312)