Trăsături

Trăsături asociate cu MT-TS2

mitochondrially encoded tRNA-Ser (AGU/C) 2

Human Phenotype Ontology asociază 116 trăsături cu MT-TS2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

MT-TS2

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormality of movement	Foarte des (80–99%)
Absent/small cerebral white matter	Foarte des (80–99%)
Ataxia	Foarte des (80–99%)
Dementia	Foarte des (80–99%)
Difficulty finding words	Foarte des (80–99%)
EEG abnormality	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Generalized myoclonic seizure	Foarte des (80–99%)
Migraine	Foarte des (80–99%)
Widened cerebral subarachnoid space	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Anxiety	Des (30–79%)
Cognitive impairment	Des (30–79%)
Depression	Des (30–79%)
Encephalopathy	Des (30–79%)
Fluctuations in consciousness	Des (30–79%)
Grand mal seizures	Des (30–79%)
Impaired visuospatial constructive cognition	Des (30–79%)
Jerking	Des (30–79%)
Memory impairment	Des (30–79%)
Peripheral neuropathy	Des (30–79%)
Psychosis	Des (30–79%)
Recurrent paroxysmal headache	Des (30–79%)
Seizure affecting one half of brain	Des (30–79%)
Short attention span	Des (30–79%)
Specific learning disability	Des (30–79%)
Weakness of one side of body	Des (30–79%)
Abnormal central motor function	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)
Bipolar disorder	Uneori (5–29%)
Brain degeneration	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
Distal peripheral sensory neuropathy	Uneori (5–29%)
Disturbances of consciousness	Uneori (5–29%)
Elevated brain lactate level by MRS	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Mixed demyelinating and axonal polyneuropathy	Uneori (5–29%)
Motor delay	Uneori (5–29%)
Nerve damage causing decreased feeling and movement	Uneori (5–29%)
Peripheral axonal neuropathy	Uneori (5–29%)
Personality changes	Uneori (5–29%)
Psychotic mentation	Uneori (5–29%)
Stuttering	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Stroke-like episode	Foarte des (80–99%)
Cardiac conduction abnormality	Uneori (5–29%)
Concentric hypertrophic cardiomyopathy	Uneori (5–29%)
Disease of the heart muscle	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
Increased blood pressure in blood vessels of lungs	Uneori (5–29%)
Redness of skin or mucous membrane	Uneori (5–29%)
Stretched and thinned heart muscle	Uneori (5–29%)
Wolff-Parkinson-White syndrome	Uneori (5–29%)
Abnormal heart rate	Neînregistrat
Abnormal left ventricular function	Neînregistrat
Cardiac failure	Neînregistrat
High blood pressure	Neînregistrat
Left ventricular hypertrophy	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormal electroretinogram	Foarte des (80–99%)
Blind spot	Foarte des (80–99%)
Difficulties with night vision	Foarte des (80–99%)
Light eye color	Foarte des (80–99%)
Rod-cone dystrophy	Foarte des (80–99%)
Visual loss	Foarte des (80–99%)
Optic atrophy	Des (30–79%)
Pigmentary retinopathy	Uneori (5–29%)
Progressive external ophthalmoplegia	Uneori (5–29%)
Cerebral visual impairment	Neînregistrat
Clouding of the lens of the eye at birth	Neînregistrat
Eye muscle paralysis	Neînregistrat
Hemianopia	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Higher than normal levels of lactate in blood	Foarte des (80–99%)
Increased lactate in body	Foarte des (80–99%)
Diabetes mellitus	Des (30–79%)
Increased CSF lactate	Des (30–79%)
Increased CSF protein concentration	Des (30–79%)
Fever	Uneori (5–29%)
High urine protein levels	Uneori (5–29%)
Noninsulin-dependent diabetes	Uneori (5–29%)
Type 1 diabetes	Uneori (5–29%)
Increased circulating pyruvate concentration	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
EMG abnormality	Foarte des (80–99%)
Muscle tissue disease	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Ragged-red muscle fibers	Foarte des (80–99%)
Basal ganglia calcification	Des (30–79%)
Multiple fatty lumps	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Neînregistrat
Mitochondrial myopathy	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Vomiting	Des (30–79%)
Constipation	Uneori (5–29%)
Diarrhea	Uneori (5–29%)
Gastrointestinal dysmotility	Uneori (5–29%)
Intestinal pseudo-obstruction	Uneori (5–29%)
Recurring pancreas inflammation	Uneori (5–29%)
Episodic vomiting	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormal cochlea morphology	Foarte des (80–99%)
Sensorineural hearing impairment	Foarte des (80–99%)
Vestibular hyporeflexia	Foarte des (80–99%)
Abnormal vestibular function	Uneori (5–29%)
Bilateral sensorineural hearing impairment	Neînregistrat
Progressive sensorineural hearing impairment	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased parathyroid hormone secretion	Rar (1–4%)
Hypogonadotropic hypogonadism	Rar (1–4%)
Underactive thyroid	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Focal segmental glomerulosclerosis	Uneori (5–29%)
Kidney damage	Uneori (5–29%)
Proximal tubulopathy	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Des (30–79%)
Faltering weight	Uneori (5–29%)
Growth abnormality	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Blotchy loss of skin color	Uneori (5–29%)
Excessive hair growth	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Abnormal mitochondria in muscle tissue	Foarte des (80–99%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Low number of red blood cells or hemoglobin	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Decreased ability to exercise	Uneori (5–29%)

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-TS2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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