Traits

Traits linked to TTN

titin

The Human Phenotype Ontology links 136 traits to TTN, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

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

Abnormality of the cardiovascular system

Trait	Kuinka usein sitä esiintyy
Abnormal heart rate	Aina
Enlarged and thickened heart muscle	Aina
Severely reduced left ventricular ejection fraction	Aina
Stretched and thinned heart muscle	Aina
Left ventricular systolic dysfunction	Hyvin usein (80–99%)
Sudden cardiac death	Hyvin usein (80–99%)
Cardiac failure	Usein (30–79%)
Fainting spell	Usein (30–79%)
Palpitations	Usein (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Usein (30–79%)
Abnormal heart valve morphology	Joskus (5–29%)
Atrioventricular reentrant tachycardia	Joskus (5–29%)
Heart attack	Joskus (5–29%)
Interruption of electrical communication between upper and lower chambers of heart	Joskus (5–29%)
Left ventricular hypertrophy	Joskus (5–29%)
Mitral valve prolapse	Joskus (5–29%)
Right ventricular failure	Joskus (5–29%)
Right ventricular hypertrophy	Joskus (5–29%)
Disease of the heart muscle	Ei kirjattu
Premature atrial contractions	Ei kirjattu
Reduced left ventricular ejection fraction	Ei kirjattu
Ventricular tachycardia	Ei kirjattu

Abnormality of limbs

Trait	Kuinka usein sitä esiintyy
Increased size of calf muscles	Aina
Tibialis muscle weakness	Aina
Foot drop	Usein (30–79%)
Peroneal muscle atrophy	Usein (30–79%)
Winged shoulder blade	Usein (30–79%)
Club feet	Joskus (5–29%)
Dropped arches	Joskus (5–29%)
High-arched foot	Joskus (5–29%)
Hip contracture	Joskus (5–29%)
Long fingers	Joskus (5–29%)
Proximal lower limb muscle weakness	Joskus (5–29%)
Quadriceps weakness	Joskus (5–29%)
Shortening of the achilles tendon	Joskus (5–29%)
Distal upper limb muscle weakness	Harvinainen (1–4 %)
Pelvic girdle muscle weakness	Ei kirjattu
Weak shoulder muscles	Ei kirjattu
Weakness of long finger extensor muscles	Ei kirjattu

Abnormality of head or neck

Trait	Kuinka usein sitä esiintyy
Weakness of facial musculature	Aina
Bell's palsy	Usein (30–79%)
High palate	Usein (30–79%)
Limited neck flexibility	Usein (30–79%)
Receding chin	Usein (30–79%)
Abnormal facial shape	Joskus (5–29%)
Bifid uvula	Joskus (5–29%)
Big lower jaw	Joskus (5–29%)
Facial diplegia	Joskus (5–29%)
Long face	Joskus (5–29%)
Narrow mouth	Joskus (5–29%)
Small retruded chin	Joskus (5–29%)

Abnormality of the nervous system

Trait	Kuinka usein sitä esiintyy
Motor delay	Aina
Abnormal gait	Usein (30–79%)
Delayed motor skills	Usein (30–79%)
High pitched voice	Usein (30–79%)
High stepping	Usein (30–79%)
Waddling gait	Usein (30–79%)
Absent reflexes	Joskus (5–29%)
Clumsiness	Joskus (5–29%)
Delayed speech and language development	Joskus (5–29%)
Difficulty articulating speech	Joskus (5–29%)
Intellectual disability, mild	Joskus (5–29%)
Falls	Harvinainen (1–4 %)

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Breathing difficulty	Usein (30–79%)
Exertional breathlessness	Usein (30–79%)
Nocturnal hypoventilation	Usein (30–79%)
Orthopnea	Usein (30–79%)
Reduced vital capacity	Usein (30–79%)
Respiratory function loss	Usein (30–79%)
Stiff lung or chest wall causing decreased lung volume	Usein (30–79%)
Respiratory failure	Ei kirjattu

Laboratory abnormality

Trait	Kuinka usein sitä esiintyy
Elevated blood creatine phosphokinase	Aina
Fluid retention	Usein (30–79%)
Increased muscle lipid content	Usein (30–79%)
Mildly elevated creatine kinase	Usein (30–79%)

Abnormality of the ear

Trait	Kuinka usein sitä esiintyy
Dizziness	Usein (30–79%)
Prominent ear	Joskus (5–29%)
Sensorineural hearing impairment	Joskus (5–29%)

Abnormality of the eye

Trait	Kuinka usein sitä esiintyy
Drooping upper eyelid	Aina
Eye muscle paralysis	Joskus (5–29%)
Weakness of muscles controlling eye movement	Joskus (5–29%)

Constitutional symptom

Trait	Kuinka usein sitä esiintyy
Chest pain	Usein (30–79%)
Decreased ability to exercise	Usein (30–79%)
Fatigue	Usein (30–79%)

Abnormality of blood and blood-forming tissues

Trait	Kuinka usein sitä esiintyy
Thromboembolic stroke	Joskus (5–29%)
Thromboembolism	Joskus (5–29%)

Growth abnormality

Trait	Kuinka usein sitä esiintyy
Faltering weight	Usein (30–79%)
Short stature	Usein (30–79%)

Abnormal cellular phenotype

Trait	Kuinka usein sitä esiintyy
Mitochondrial depletion	Ei kirjattu

Abnormality of the voice

Trait	Kuinka usein sitä esiintyy
Inability to produce voice sounds	Joskus (5–29%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

The Human Phenotype Ontology, release 2026-09-01: the traits linked to TTN and how often each is seen. Find out more at hpo.jax.org.

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