Tunnused

Geeniga TTN seotud tunnused

titin

Inimese fenotüübi ontoloogia seostab geeniga TTN 136 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Centrally nucleated skeletal muscle fibers	Alati
Difficulty running	Alati
Difficulty walking up stairs	Alati
Fatty replacement of skeletal muscle	Alati
Generalized muscle weakness	Alati
Increased variability in muscle fiber diameter	Alati
Joint contracture	Alati
Muscle tissue disease	Alati
Proximal neurogenic muscle weakness	Alati
Tibialis anterior muscle atrophy	Alati
Muscular dystrophy	Väga sageli (80–99%)
Ankle weakness	Sageli (30–79%)
Axial muscle weakness	Sageli (30–79%)
Decreased lung function due to weak breathing muscles	Sageli (30–79%)
Diffuse skeletal muscle wasting	Sageli (30–79%)
EMG: myopathic abnormalities	Sageli (30–79%)
Generalized decreased muscle tone	Sageli (30–79%)
Gowers sign	Sageli (30–79%)
Increased endomysial connective tissue	Sageli (30–79%)
Intermittent episodes of respiratory insufficiency due to muscle weakness	Sageli (30–79%)
Internally nucleated skeletal muscle fibers	Sageli (30–79%)
Limited hip movement	Sageli (30–79%)
Minicore myopathy	Sageli (30–79%)
Multiple joint contractures	Sageli (30–79%)
Muscle degeneration	Sageli (30–79%)
Muscle fiber degeneration	Sageli (30–79%)
Muscle fiber splitting	Sageli (30–79%)
Neck flexion weakness	Sageli (30–79%)
Necrotizing myopathy	Sageli (30–79%)
Poor head control	Sageli (30–79%)
Progressive muscle weakness	Sageli (30–79%)
Reduced spine movement	Sageli (30–79%)
Rimmed vacuoles	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Type 1 muscle fiber predominance	Sageli (30–79%)
Abnormal formation of the hip	Mõnikord (5–29%)
EMG abnormality	Mõnikord (5–29%)
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Mõnikord (5–29%)
Hypertrophied muscle fibers	Mõnikord (5–29%)
Loss of fat tissue in localized area	Mõnikord (5–29%)
Prominent swayback	Mõnikord (5–29%)
Weakness of outermost muscles	Mõnikord (5–29%)
Absent muscle fiber merosin	Pole registreeritud
Frequent falls	Pole registreeritud
Myofibrillar myopathy	Pole registreeritud
Weak diaphragm	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal heart rate	Alati
Enlarged and thickened heart muscle	Alati
Severely reduced left ventricular ejection fraction	Alati
Stretched and thinned heart muscle	Alati
Left ventricular systolic dysfunction	Väga sageli (80–99%)
Sudden cardiac death	Väga sageli (80–99%)
Cardiac failure	Sageli (30–79%)
Fainting spell	Sageli (30–79%)
Palpitations	Sageli (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Sageli (30–79%)
Abnormal heart valve morphology	Mõnikord (5–29%)
Atrioventricular reentrant tachycardia	Mõnikord (5–29%)
Heart attack	Mõnikord (5–29%)
Interruption of electrical communication between upper and lower chambers of heart	Mõnikord (5–29%)
Left ventricular hypertrophy	Mõnikord (5–29%)
Mitral valve prolapse	Mõnikord (5–29%)
Right ventricular failure	Mõnikord (5–29%)
Right ventricular hypertrophy	Mõnikord (5–29%)
Disease of the heart muscle	Pole registreeritud
Premature atrial contractions	Pole registreeritud
Reduced left ventricular ejection fraction	Pole registreeritud
Ventricular tachycardia	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Increased size of calf muscles	Alati
Tibialis muscle weakness	Alati
Foot drop	Sageli (30–79%)
Peroneal muscle atrophy	Sageli (30–79%)
Winged shoulder blade	Sageli (30–79%)
Club feet	Mõnikord (5–29%)
Dropped arches	Mõnikord (5–29%)
High-arched foot	Mõnikord (5–29%)
Hip contracture	Mõnikord (5–29%)
Long fingers	Mõnikord (5–29%)
Proximal lower limb muscle weakness	Mõnikord (5–29%)
Quadriceps weakness	Mõnikord (5–29%)
Shortening of the achilles tendon	Mõnikord (5–29%)
Distal upper limb muscle weakness	Harva (1–4%)
Pelvic girdle muscle weakness	Pole registreeritud
Weak shoulder muscles	Pole registreeritud
Weakness of long finger extensor muscles	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Weakness of facial musculature	Alati
Bell's palsy	Sageli (30–79%)
High palate	Sageli (30–79%)
Limited neck flexibility	Sageli (30–79%)
Receding chin	Sageli (30–79%)
Abnormal facial shape	Mõnikord (5–29%)
Bifid uvula	Mõnikord (5–29%)
Big lower jaw	Mõnikord (5–29%)
Facial diplegia	Mõnikord (5–29%)
Long face	Mõnikord (5–29%)
Narrow mouth	Mõnikord (5–29%)
Small retruded chin	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Motor delay	Alati
Abnormal gait	Sageli (30–79%)
Delayed motor skills	Sageli (30–79%)
High pitched voice	Sageli (30–79%)
High stepping	Sageli (30–79%)
Waddling gait	Sageli (30–79%)
Absent reflexes	Mõnikord (5–29%)
Clumsiness	Mõnikord (5–29%)
Delayed speech and language development	Mõnikord (5–29%)
Difficulty articulating speech	Mõnikord (5–29%)
Intellectual disability, mild	Mõnikord (5–29%)
Falls	Harva (1–4%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulty	Sageli (30–79%)
Exertional breathlessness	Sageli (30–79%)
Nocturnal hypoventilation	Sageli (30–79%)
Orthopnea	Sageli (30–79%)
Reduced vital capacity	Sageli (30–79%)
Respiratory function loss	Sageli (30–79%)
Stiff lung or chest wall causing decreased lung volume	Sageli (30–79%)
Respiratory failure	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated blood creatine phosphokinase	Alati
Fluid retention	Sageli (30–79%)
Increased muscle lipid content	Sageli (30–79%)
Mildly elevated creatine kinase	Sageli (30–79%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Dizziness	Sageli (30–79%)
Prominent ear	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Drooping upper eyelid	Alati
Eye muscle paralysis	Mõnikord (5–29%)
Weakness of muscles controlling eye movement	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Chest pain	Sageli (30–79%)
Decreased ability to exercise	Sageli (30–79%)
Fatigue	Sageli (30–79%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Thromboembolic stroke	Mõnikord (5–29%)
Thromboembolism	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Short stature	Sageli (30–79%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Mitochondrial depletion	Pole registreeritud

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Inability to produce voice sounds	Mõnikord (5–29%)

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 TTN seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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