Trăsături

Trăsături asociate cu MT-ND3

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

Human Phenotype Ontology asociază 81 trăsături cu MT-ND3, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

MT-ND3

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Ataxia	Foarte des (80–99%)
Encephalopathy	Foarte des (80–99%)
Focal T2 hyperintense brainstem lesion	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Lethargy	Foarte des (80–99%)
Leukodystrophy	Foarte des (80–99%)
Leukoencephalopathy	Foarte des (80–99%)
Poor eye contact	Foarte des (80–99%)
Chorea	Des (30–79%)
Disorder of involuntary muscle movements	Des (30–79%)
Dystonia	Des (30–79%)
Epilepsy	Des (30–79%)
Focal T2 hyperintense basal ganglia lesion	Des (30–79%)
Generalized myoclonic seizure	Des (30–79%)
Grand mal seizures	Des (30–79%)
Inability to coordinate movements when walking	Des (30–79%)
Nerve damage causing decreased feeling and movement	Des (30–79%)
Severe global developmental delay	Des (30–79%)
Abnormal prosody	Uneori (5–29%)
Bulbar signs	Uneori (5–29%)
Decreased reflex response	Uneori (5–29%)
Demyelinating peripheral neuropathy	Uneori (5–29%)
Increased reflexes	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Segmental peripheral demyelination/remyelination	Uneori (5–29%)

Laboratory abnormality

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

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Foarte des (80–99%)
Damaged optic nerve	Foarte des (80–99%)
Drooping upper eyelid	Foarte des (80–99%)
Involuntary, rapid, rhythmic eye movements	Foarte des (80–99%)
Optic disc pallor	Foarte des (80–99%)
Paroxysmal involuntary eye movements	Foarte des (80–99%)
Pigmentary retinopathy	Des (30–79%)
Weakness of muscles controlling eye movement	Des (30–79%)
Blindness	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Rod-cone dystrophy	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Foarte des (80–99%)
Mitochondrial myopathy	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Poor head control	Foarte des (80–99%)
Decreased muscle tone in infant	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Ragged-red muscle fibers	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged liver	Foarte des (80–99%)
Vomiting	Foarte des (80–99%)
Episodic vomiting	Des (30–79%)
Feeding difficulties	Uneori (5–29%)
Liver failure	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Respiratory function loss	Foarte des (80–99%)
Apnea	Uneori (5–29%)
Breathing difficulty	Uneori (5–29%)
Episodic difficulty breathing	Uneori (5–29%)
Rapid breathing	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Enlarged and thickened heart muscle	Foarte des (80–99%)
Cardiac conduction abnormality	Uneori (5–29%)
Stretched and thinned heart muscle	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Proximal tubulopathy	Foarte des (80–99%)
Abnormal renal tubule morphology	Uneori (5–29%)
Multiple glomerular cysts	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased activity of mitochondrial complex I	Întotdeauna
Abnormal mitochondria in muscle tissue	Foarte des (80–99%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Uneori (5–29%)

Abnormality of prenatal development or birth

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

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Sensorineural hearing impairment	Foarte des (80–99%)

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-ND3 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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