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Traits
Traits linked to BAG3
BAG cochaperone 3
The Human Phenotype Ontology links 76 traits to BAG3, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the musculoskeletal system
| Trait | Hvor ofte det ses |
|---|---|
| Difficulty walking up stairs | Altid |
| Distal lower limb amyotrophy | Altid |
| EMG: myopathic abnormalities | Altid |
| Fatty replacement of skeletal muscle | Altid |
| EMG: neuropathic changes | Meget ofte (80–99 %) |
| Angulated muscle fibers | Ofte (30–79 %) |
| Axial muscle weakness | Ofte (30–79 %) |
| Diaphragmatic paralysis | Ofte (30–79 %) |
| Fiber type grouping | Ofte (30–79 %) |
| Generalized muscle weakness | Ofte (30–79 %) |
| Muscle fiber degeneration | Ofte (30–79 %) |
| Proximal neurogenic muscle weakness | Ofte (30–79 %) |
| Reduced spine movement | Ofte (30–79 %) |
| Scoliosis | Ofte (30–79 %) |
| Thoracic scoliosis | Ofte (30–79 %) |
| Tired easily | Ofte (30–79 %) |
| Weakness of outermost muscles | Ofte (30–79 %) |
| EMG abnormality | Nogle gange (5–29 %) |
| Loss of fat tissue in localized area | Nogle gange (5–29 %) |
| Muscle spasm | Nogle gange (5–29 %) |
| Muscle tissue disease | Nogle gange (5–29 %) |
| Diffuse skeletal muscle wasting | Ikke registreret |
| Muscular dystrophy | Ikke registreret |
| Myofibrillar myopathy | Ikke registreret |
Abnormality of limbs
| Trait | Hvor ofte det ses |
|---|---|
| Areflexia of lower limbs | Altid |
| Areflexia of upper limbs | Altid |
| Decreased Achilles reflex | Altid |
| High-arched foot | Altid |
| Hip flexor weakness | Altid |
| Shortening of the achilles tendon | Altid |
| Absent ankle reflexes | Meget ofte (80–99 %) |
| Distal lower limb muscle weakness | Meget ofte (80–99 %) |
| Decreased knee jerk reflex | Ofte (30–79 %) |
| Foot drop | Ofte (30–79 %) |
| Lower limb muscle weakness | Ofte (30–79 %) |
| Pes valgus | Ofte (30–79 %) |
| Winged shoulder blade | Ofte (30–79 %) |
| Absent knee jerk reflex | Nogle gange (5–29 %) |
| Distal upper limb muscle weakness | Nogle gange (5–29 %) |
| Inability to straighten knee | Ikke registreret |
Abnormality of the nervous system
| Trait | Hvor ofte det ses |
|---|---|
| Abnormal gait | Altid |
| Decreased nerve conduction velocity | Altid |
| Decreased sensory nerve conduction velocity | Altid |
| Decreased touch sensation in extremities | Altid |
| Impaired pain sensation | Altid |
| Impaired vibration sensation in the lower limbs | Altid |
| Peripheral neuropathy | Altid |
| Decreased compound muscle action potential amplitude | Meget ofte (80–99 %) |
| Demyelinating peripheral neuropathy | Ofte (30–79 %) |
| Numbness | Ofte (30–79 %) |
| Toe walking | Ofte (30–79 %) |
| Axonal loss | Ikke registreret |
| Decreased reflex response | Ikke registreret |
| Decreased sensation in extremities | Ikke registreret |
Abnormality of the cardiovascular system
| Trait | Hvor ofte det ses |
|---|---|
| Left ventricular systolic dysfunction | Meget ofte (80–99 %) |
| Stretched and thinned heart muscle | Meget ofte (80–99 %) |
| Abnormal heart rate | Ofte (30–79 %) |
| Cardiac failure | Ofte (30–79 %) |
| Enlarged and thickened heart muscle | Ofte (30–79 %) |
| Increased left ventricular end-diastolic volume | Ofte (30–79 %) |
| Left ventricular hypertrophy | Ofte (30–79 %) |
| Mitral regurgitation | Ofte (30–79 %) |
| Restrictive cardiomyopathy | Ofte (30–79 %) |
| Palpitations | Nogle gange (5–29 %) |
Abnormality of the respiratory system
| Trait | Hvor ofte det ses |
|---|---|
| Respiratory function loss | Altid |
| Exertional breathlessness | Ofte (30–79 %) |
| Orthopnea | Ofte (30–79 %) |
| Reduced forced vital capacity | Ofte (30–79 %) |
| Stiff lung or chest wall causing decreased lung volume | Ofte (30–79 %) |
Laboratory abnormality
| Trait | Hvor ofte det ses |
|---|---|
| Elevated blood creatine phosphokinase | Altid |
| Fluid retention | Ofte (30–79 %) |
Abnormality of blood and blood-forming tissues
| Trait | Hvor ofte det ses |
|---|---|
| Thromboembolic stroke | Nogle gange (5–29 %) |
Abnormality of head or neck
| Trait | Hvor ofte det ses |
|---|---|
| Bell's palsy | Ikke registreret |
Abnormality of the ear
| Trait | Hvor ofte det ses |
|---|---|
| Sensorineural hearing impairment | Nogle gange (5–29 %) |
Abnormality of the voice
| Trait | Hvor ofte det ses |
|---|---|
| Nasal speech | Ofte (30–79 %) |
Constitutional symptom
| Trait | Hvor ofte det ses |
|---|---|
| Fatigue | Ofte (30–79 %) |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Hvor oplysningerne kommer fra
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to BAG3 and how often each is seen. Find out more at hpo.jax.org.
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