Trăsături

Trăsături asociate cu MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

Human Phenotype Ontology asociază 144 trăsături cu MT-ND4, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Absent/small cerebral white matter	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%)
Migraine	Foarte des (80–99%)
Widened cerebral subarachnoid space	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Anxiety	Des (30–79%)
Ataxia	Des (30–79%)
Chorea	Des (30–79%)
Depression	Des (30–79%)
Disorder of involuntary muscle movements	Des (30–79%)
Dystonia	Des (30–79%)
Encephalopathy	Des (30–79%)
Fluctuations in consciousness	Des (30–79%)
Focal T2 hyperintense basal ganglia lesion	Des (30–79%)
Generalized myoclonic seizure	Des (30–79%)
Grand mal seizures	Des (30–79%)
Impaired visuospatial constructive cognition	Des (30–79%)
Inability to coordinate movements when walking	Des (30–79%)
Jerking	Des (30–79%)
Memory impairment	Des (30–79%)
Nerve damage causing decreased feeling and movement	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%)
Severe global developmental delay	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%)
Abnormal prosody	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)
Bipolar disorder	Uneori (5–29%)
Brain degeneration	Uneori (5–29%)
Bulbar signs	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
Decreased reflex response	Uneori (5–29%)
Demyelinating peripheral neuropathy	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%)
Increased reflexes	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Mixed demyelinating and axonal polyneuropathy	Uneori (5–29%)
Motor delay	Uneori (5–29%)
Peripheral axonal neuropathy	Uneori (5–29%)
Personality changes	Uneori (5–29%)
Postural tremor	Uneori (5–29%)
Psychotic mentation	Uneori (5–29%)
Segmental peripheral demyelination/remyelination	Uneori (5–29%)
Stuttering	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Peripheral nerve disease	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Slow decrease in sharpness of vision	Foarte des (80–99%)
Blind spot located at fixation point	Des (30–79%)
Blurred vision	Des (30–79%)
Centrocecal scotoma	Des (30–79%)
Damaged optic nerve	Des (30–79%)
Optic atrophy	Des (30–79%)
Pigmentary retinopathy	Des (30–79%)
Progressive loss of vision	Des (30–79%)
Visual loss	Des (30–79%)
Weakness of muscles controlling eye movement	Des (30–79%)
Abnormal color vision	Uneori (5–29%)
Abnormal electroretinogram	Uneori (5–29%)
Abnormality of visual evoked potentials	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Progressive external ophthalmoplegia	Uneori (5–29%)
Reduced contrast sensitivity	Uneori (5–29%)
Retinal nerve fiber edema	Uneori (5–29%)
Rod-cone dystrophy	Uneori (5–29%)
Leber optic atrophy	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Abnormality of Krebs cycle metabolism	Foarte des (80–99%)
Higher than normal levels of lactate in blood	Foarte des (80–99%)
Increased CSF lactate	Foarte des (80–99%)
Increased lactate in body	Foarte des (80–99%)
Diabetes mellitus	Des (30–79%)
High urine lactic acid levels	Des (30–79%)
Increased CSF protein concentration	Des (30–79%)
Fever	Uneori (5–29%)
High urine protein levels	Uneori (5–29%)
Hypothermia	Uneori (5–29%)
Increased blood alanine	Uneori (5–29%)
Noninsulin-dependent diabetes	Uneori (5–29%)
Type 1 diabetes	Uneori (5–29%)
Decreased circulating citrulline concentration	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Stroke-like episode	Foarte des (80–99%)
Retinal telangiectasia	Des (30–79%)
Retinal vascular tortuosity	Des (30–79%)
Abnormal heart rate	Uneori (5–29%)
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%)
Ventricular preexcitation	Uneori (5–29%)
Wolff-Parkinson-White syndrome	Uneori (5–29%)

Abnormality of the digestive system

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

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Muscle weakness	Foarte des (80–99%)
Ragged-red muscle fibers	Foarte des (80–99%)
Basal ganglia calcification	Des (30–79%)
Decreased muscle tone in infant	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Muscle tissue disease	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Mitochondrial myopathy	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal renal tubule morphology	Uneori (5–29%)
Focal segmental glomerulosclerosis	Uneori (5–29%)
Kidney damage	Uneori (5–29%)
Multiple glomerular cysts	Uneori (5–29%)
Proximal tubulopathy	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Apnea	Uneori (5–29%)
Breathing difficulty	Uneori (5–29%)
Episodic difficulty breathing	Uneori (5–29%)
Rapid breathing	Uneori (5–29%)

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%)

Abnormal cellular phenotype

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

Abnormality of the integument

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

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Short stature	Des (30–79%)

Abnormality of blood and blood-forming tissues

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

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Central retinal vessel vascular tortuosity	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Sensorineural hearing impairment	Des (30–79%)

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-ND4 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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