Kjennetegn

Kjennetegn knyttet til TTN

titin

Human Phenotype Ontology knytter 136 kjennetegn til TTN, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of the musculoskeletal system

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

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Abnormal heart rate	Alltid
Enlarged and thickened heart muscle	Alltid
Severely reduced left ventricular ejection fraction	Alltid
Stretched and thinned heart muscle	Alltid
Left ventricular systolic dysfunction	Svært ofte (80–99 %)
Sudden cardiac death	Svært ofte (80–99 %)
Cardiac failure	Ofte (30–79 %)
Fainting spell	Ofte (30–79 %)
Palpitations	Ofte (30–79 %)
Quivering upper heart chambers resulting in irregular heartbeat	Ofte (30–79 %)
Abnormal heart valve morphology	Noen ganger (5–29 %)
Atrioventricular reentrant tachycardia	Noen ganger (5–29 %)
Heart attack	Noen ganger (5–29 %)
Interruption of electrical communication between upper and lower chambers of heart	Noen ganger (5–29 %)
Left ventricular hypertrophy	Noen ganger (5–29 %)
Mitral valve prolapse	Noen ganger (5–29 %)
Right ventricular failure	Noen ganger (5–29 %)
Right ventricular hypertrophy	Noen ganger (5–29 %)
Disease of the heart muscle	Ikke registrert
Premature atrial contractions	Ikke registrert
Reduced left ventricular ejection fraction	Ikke registrert
Ventricular tachycardia	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Increased size of calf muscles	Alltid
Tibialis muscle weakness	Alltid
Foot drop	Ofte (30–79 %)
Peroneal muscle atrophy	Ofte (30–79 %)
Winged shoulder blade	Ofte (30–79 %)
Club feet	Noen ganger (5–29 %)
Dropped arches	Noen ganger (5–29 %)
High-arched foot	Noen ganger (5–29 %)
Hip contracture	Noen ganger (5–29 %)
Long fingers	Noen ganger (5–29 %)
Proximal lower limb muscle weakness	Noen ganger (5–29 %)
Quadriceps weakness	Noen ganger (5–29 %)
Shortening of the achilles tendon	Noen ganger (5–29 %)
Distal upper limb muscle weakness	Sjelden (1–4%)
Pelvic girdle muscle weakness	Ikke registrert
Weak shoulder muscles	Ikke registrert
Weakness of long finger extensor muscles	Ikke registrert

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Weakness of facial musculature	Alltid
Bell's palsy	Ofte (30–79 %)
High palate	Ofte (30–79 %)
Limited neck flexibility	Ofte (30–79 %)
Receding chin	Ofte (30–79 %)
Abnormal facial shape	Noen ganger (5–29 %)
Bifid uvula	Noen ganger (5–29 %)
Big lower jaw	Noen ganger (5–29 %)
Facial diplegia	Noen ganger (5–29 %)
Long face	Noen ganger (5–29 %)
Narrow mouth	Noen ganger (5–29 %)
Small retruded chin	Noen ganger (5–29 %)

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Motor delay	Alltid
Abnormal gait	Ofte (30–79 %)
Delayed motor skills	Ofte (30–79 %)
High pitched voice	Ofte (30–79 %)
High stepping	Ofte (30–79 %)
Waddling gait	Ofte (30–79 %)
Absent reflexes	Noen ganger (5–29 %)
Clumsiness	Noen ganger (5–29 %)
Delayed speech and language development	Noen ganger (5–29 %)
Difficulty articulating speech	Noen ganger (5–29 %)
Intellectual disability, mild	Noen ganger (5–29 %)
Falls	Sjelden (1–4%)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Breathing difficulty	Ofte (30–79 %)
Exertional breathlessness	Ofte (30–79 %)
Nocturnal hypoventilation	Ofte (30–79 %)
Orthopnea	Ofte (30–79 %)
Reduced vital capacity	Ofte (30–79 %)
Respiratory function loss	Ofte (30–79 %)
Stiff lung or chest wall causing decreased lung volume	Ofte (30–79 %)
Respiratory failure	Ikke registrert

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Elevated blood creatine phosphokinase	Alltid
Fluid retention	Ofte (30–79 %)
Increased muscle lipid content	Ofte (30–79 %)
Mildly elevated creatine kinase	Ofte (30–79 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Dizziness	Ofte (30–79 %)
Prominent ear	Noen ganger (5–29 %)
Sensorineural hearing impairment	Noen ganger (5–29 %)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Drooping upper eyelid	Alltid
Eye muscle paralysis	Noen ganger (5–29 %)
Weakness of muscles controlling eye movement	Noen ganger (5–29 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Chest pain	Ofte (30–79 %)
Decreased ability to exercise	Ofte (30–79 %)
Fatigue	Ofte (30–79 %)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Thromboembolic stroke	Noen ganger (5–29 %)
Thromboembolism	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Faltering weight	Ofte (30–79 %)
Short stature	Ofte (30–79 %)

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Mitochondrial depletion	Ikke registrert

Abnormality of the voice

Kjennetegn	Hvor ofte den forekommer
Inability to produce voice sounds	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til TTN og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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