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Tunnused
Geeniga BAG3 seotud tunnused
BAG cochaperone 3
Inimese fenotüübi ontoloogia seostab geeniga BAG3 76 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Difficulty walking up stairs | Alati |
| Distal lower limb amyotrophy | Alati |
| EMG: myopathic abnormalities | Alati |
| Fatty replacement of skeletal muscle | Alati |
| EMG: neuropathic changes | Väga sageli (80–99%) |
| Angulated muscle fibers | Sageli (30–79%) |
| Axial muscle weakness | Sageli (30–79%) |
| Diaphragmatic paralysis | Sageli (30–79%) |
| Fiber type grouping | Sageli (30–79%) |
| Generalized muscle weakness | Sageli (30–79%) |
| Muscle fiber degeneration | Sageli (30–79%) |
| Proximal neurogenic muscle weakness | Sageli (30–79%) |
| Reduced spine movement | Sageli (30–79%) |
| Scoliosis | Sageli (30–79%) |
| Thoracic scoliosis | Sageli (30–79%) |
| Tired easily | Sageli (30–79%) |
| Weakness of outermost muscles | Sageli (30–79%) |
| EMG abnormality | Mõnikord (5–29%) |
| Loss of fat tissue in localized area | Mõnikord (5–29%) |
| Muscle spasm | Mõnikord (5–29%) |
| Muscle tissue disease | Mõnikord (5–29%) |
| Diffuse skeletal muscle wasting | Pole registreeritud |
| Muscular dystrophy | Pole registreeritud |
| Myofibrillar myopathy | Pole registreeritud |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Areflexia of lower limbs | Alati |
| Areflexia of upper limbs | Alati |
| Decreased Achilles reflex | Alati |
| High-arched foot | Alati |
| Hip flexor weakness | Alati |
| Shortening of the achilles tendon | Alati |
| Absent ankle reflexes | Väga sageli (80–99%) |
| Distal lower limb muscle weakness | Väga sageli (80–99%) |
| Decreased knee jerk reflex | Sageli (30–79%) |
| Foot drop | Sageli (30–79%) |
| Lower limb muscle weakness | Sageli (30–79%) |
| Pes valgus | Sageli (30–79%) |
| Winged shoulder blade | Sageli (30–79%) |
| Absent knee jerk reflex | Mõnikord (5–29%) |
| Distal upper limb muscle weakness | Mõnikord (5–29%) |
| Inability to straighten knee | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal gait | Alati |
| Decreased nerve conduction velocity | Alati |
| Decreased sensory nerve conduction velocity | Alati |
| Decreased touch sensation in extremities | Alati |
| Impaired pain sensation | Alati |
| Impaired vibration sensation in the lower limbs | Alati |
| Peripheral neuropathy | Alati |
| Decreased compound muscle action potential amplitude | Väga sageli (80–99%) |
| Demyelinating peripheral neuropathy | Sageli (30–79%) |
| Numbness | Sageli (30–79%) |
| Toe walking | Sageli (30–79%) |
| Axonal loss | Pole registreeritud |
| Decreased reflex response | Pole registreeritud |
| Decreased sensation in extremities | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Left ventricular systolic dysfunction | Väga sageli (80–99%) |
| Stretched and thinned heart muscle | Väga sageli (80–99%) |
| Abnormal heart rate | Sageli (30–79%) |
| Cardiac failure | Sageli (30–79%) |
| Enlarged and thickened heart muscle | Sageli (30–79%) |
| Increased left ventricular end-diastolic volume | Sageli (30–79%) |
| Left ventricular hypertrophy | Sageli (30–79%) |
| Mitral regurgitation | Sageli (30–79%) |
| Restrictive cardiomyopathy | Sageli (30–79%) |
| Palpitations | Mõnikord (5–29%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Respiratory function loss | Alati |
| Exertional breathlessness | Sageli (30–79%) |
| Orthopnea | Sageli (30–79%) |
| Reduced forced vital capacity | Sageli (30–79%) |
| Stiff lung or chest wall causing decreased lung volume | Sageli (30–79%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Elevated blood creatine phosphokinase | Alati |
| Fluid retention | Sageli (30–79%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Thromboembolic stroke | Mõnikord (5–29%) |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bell's palsy | Pole registreeritud |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Sensorineural hearing impairment | Mõnikord (5–29%) |
Abnormality of the voice
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Nasal speech | Sageli (30–79%) |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Fatigue | Sageli (30–79%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga BAG3 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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