Trăsături

Trăsături asociate cu MT-TL2

mitochondrially encoded tRNA-Leu (CUN) 2

Human Phenotype Ontology asociază 104 trăsături cu MT-TL2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

MT-TL2

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Episodic hemiplegia	Foarte des (80–99%)
Abnormal autonomic nervous system physiology	Des (30–79%)
Ataxia	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Brisk reflexes	Des (30–79%)
Delayed speech and language development	Des (30–79%)
Dystonia	Des (30–79%)
Epilepsy	Des (30–79%)
Intellectual disability	Des (30–79%)
Neurodevelopmental delay	Des (30–79%)
Tetraparesis	Des (30–79%)
Abnormal pyramidal sign	Uneori (5–29%)
Absent reflexes	Uneori (5–29%)
Aggressive behavior	Uneori (5–29%)
Bulbar signs	Uneori (5–29%)
Can't control feelings	Uneori (5–29%)
Chorea	Uneori (5–29%)
Choreoathetosis	Uneori (5–29%)
Depression	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Focal motor seizure	Uneori (5–29%)
Grand mal seizures	Uneori (5–29%)
Headache	Uneori (5–29%)
Impulsivity	Uneori (5–29%)
Increased reflexes	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Paroxysmal dyskinesia	Uneori (5–29%)
Repeated seizures without recovery between them	Uneori (5–29%)
Tremor	Uneori (5–29%)
Worsening neurological symptoms	Uneori (5–29%)
Brain imaging abnormality	Neînregistrat
Dementia	Neînregistrat
EEG abnormality	Neînregistrat
Encephalopathy	Neînregistrat
Migraine	Neînregistrat
Weakness of one side of body	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Progressive external ophthalmoplegia	Foarte des (80–99%)
Abnormal involuntary eye movements	Des (30–79%)
Dilated pupil	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Inward turning cross eyed	Des (30–79%)
Outward facing eye ball	Des (30–79%)
Ocular flutter	Uneori (5–29%)
Oculomotor apraxia	Uneori (5–29%)
Cerebral visual impairment	Neînregistrat
Clouding of the lens of the eye at birth	Neînregistrat
Double vision	Neînregistrat
Eye muscle paralysis	Neînregistrat
Hemianopia	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal T-wave	Uneori (5–29%)
Cardiac conduction abnormality	Uneori (5–29%)
Abnormal heart rate	Rar (1–4%)
Disease of the heart muscle	Rar (1–4%)
Abnormal left ventricular function	Neînregistrat
Cardiac failure	Neînregistrat
High blood pressure	Neînregistrat
Left ventricular hypertrophy	Neînregistrat
Stroke-like episode	Neînregistrat
Wolff-Parkinson-White syndrome	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abnormality of the gastrointestinal tract	Foarte des (80–99%)
Gastrointestinal dysmotility	Foarte des (80–99%)
Abdominal bloating	Des (30–79%)
Anorexia	Des (30–79%)
Constipation	Des (30–79%)
Diarrhea	Des (30–79%)
Oral-pharyngeal dysphagia	Des (30–79%)
Poor swallowing	Des (30–79%)
Vomiting	Des (30–79%)
Episodic vomiting	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Muscle abnormality related to mitochondrial dysfunction	Foarte des (80–99%)
Axial muscle weakness	Des (30–79%)
Decreased lung function due to weak breathing muscles	Des (30–79%)
EMG abnormality	Des (30–79%)
Progressive proximal muscle weakness	Des (30–79%)
Ragged-red muscle fibers	Des (30–79%)
Low muscle tone	Uneori (5–29%)
Rigidity	Uneori (5–29%)
Mitochondrial myopathy	Neînregistrat
Muscle tissue disease	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Decreased facial muscle tone	Uneori (5–29%)
Downturned corners of mouth	Uneori (5–29%)
Exaggerated cupid's bow	Uneori (5–29%)
High forehead	Uneori (5–29%)
Thin eyebrow	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Higher than normal levels of lactate in blood	Des (30–79%)
Mildly elevated creatine kinase	Des (30–79%)
Dehydration	Uneori (5–29%)
Diabetes mellitus	Neînregistrat
Increased lactate in body	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Stiff lung or chest wall causing decreased lung volume	Des (30–79%)
Apnea	Uneori (5–29%)
Aspiration	Uneori (5–29%)
Breathing difficulties	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Flushing	Des (30–79%)
Paleness	Des (30–79%)
Excessive sweating	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Bilateral sensorineural hearing impairment	Neînregistrat
Progressive sensorineural hearing impairment	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Growth abnormality	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Abnormal mitochondria in muscle tissue	Des (30–79%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Skewfoot	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Underactive thyroid	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu MT-TL2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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