Traits

Traits linked to MT-ND2

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2

The Human Phenotype Ontology links 103 traits to MT-ND2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Ataxia	Labai dažnai (80–99%)
Encephalopathy	Labai dažnai (80–99%)
Focal T2 hyperintense brainstem lesion	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Lethargy	Labai dažnai (80–99%)
Leukodystrophy	Labai dažnai (80–99%)
Leukoencephalopathy	Labai dažnai (80–99%)
Poor eye contact	Labai dažnai (80–99%)
Chorea	Dažnai (30–79%)
Disorder of involuntary muscle movements	Dažnai (30–79%)
Dystonia	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Focal T2 hyperintense basal ganglia lesion	Dažnai (30–79%)
Generalized myoclonic seizure	Dažnai (30–79%)
Grand mal seizures	Dažnai (30–79%)
Inability to coordinate movements when walking	Dažnai (30–79%)
Nerve damage causing decreased feeling and movement	Dažnai (30–79%)
Severe global developmental delay	Dažnai (30–79%)
Abnormal prosody	Kartais (5–29%)
Bulbar signs	Kartais (5–29%)
Decreased reflex response	Kartais (5–29%)
Demyelinating peripheral neuropathy	Kartais (5–29%)
Increased reflexes	Kartais (5–29%)
Infantile spasms	Kartais (5–29%)
Loss of developmental milestones	Kartais (5–29%)
Peripheral neuropathy	Kartais (5–29%)
Postural tremor	Kartais (5–29%)
Segmental peripheral demyelination/remyelination	Kartais (5–29%)
Peripheral nerve disease	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Cross-eyed	Labai dažnai (80–99%)
Damaged optic nerve	Labai dažnai (80–99%)
Drooping upper eyelid	Labai dažnai (80–99%)
Involuntary, rapid, rhythmic eye movements	Labai dažnai (80–99%)
Optic disc pallor	Labai dažnai (80–99%)
Paroxysmal involuntary eye movements	Labai dažnai (80–99%)
Slow decrease in sharpness of vision	Labai dažnai (80–99%)
Blind spot located at fixation point	Dažnai (30–79%)
Blurred vision	Dažnai (30–79%)
Centrocecal scotoma	Dažnai (30–79%)
Optic atrophy	Dažnai (30–79%)
Pigmentary retinopathy	Dažnai (30–79%)
Progressive loss of vision	Dažnai (30–79%)
Weakness of muscles controlling eye movement	Dažnai (30–79%)
Abnormal color vision	Kartais (5–29%)
Abnormal electroretinogram	Kartais (5–29%)
Abnormality of visual evoked potentials	Kartais (5–29%)
Blindness	Kartais (5–29%)
Reduced contrast sensitivity	Kartais (5–29%)
Retinal nerve fiber edema	Kartais (5–29%)
Rod-cone dystrophy	Kartais (5–29%)
Leber optic atrophy	Neužfiksuota
Visual loss	Neužfiksuota

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Abnormality of Krebs cycle metabolism	Labai dažnai (80–99%)
Increased circulating pyruvate concentration	Labai dažnai (80–99%)
Increased CSF lactate	Labai dažnai (80–99%)
Increased lactate in body	Labai dažnai (80–99%)
Low blood sugar	Labai dažnai (80–99%)
High urine lactic acid levels	Dažnai (30–79%)
Higher than normal levels of lactate in blood	Dažnai (30–79%)
Diabetes mellitus	Kartais (5–29%)
Fever	Kartais (5–29%)
Hypothermia	Kartais (5–29%)
Increased blood alanine	Kartais (5–29%)
Decreased circulating citrulline concentration	Retai (1–4 %)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Low muscle tone	Labai dažnai (80–99%)
Mitochondrial myopathy	Labai dažnai (80–99%)
Muscle weakness	Labai dažnai (80–99%)
Poor head control	Labai dažnai (80–99%)
Decreased muscle tone in infant	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Spasticity and rigidity of muscles	Dažnai (30–79%)
Muscle tissue disease	Kartais (5–29%)
Ragged-red muscle fibers	Retai (1–4 %)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Enlarged and thickened heart muscle	Labai dažnai (80–99%)
Retinal telangiectasia	Dažnai (30–79%)
Retinal vascular tortuosity	Dažnai (30–79%)
Abnormal heart rate	Kartais (5–29%)
Cardiac conduction abnormality	Kartais (5–29%)
Stretched and thinned heart muscle	Kartais (5–29%)
Ventricular preexcitation	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Enlarged liver	Labai dažnai (80–99%)
Vomiting	Labai dažnai (80–99%)
Episodic vomiting	Dažnai (30–79%)
Feeding difficulties	Kartais (5–29%)
Liver failure	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Respiratory function loss	Labai dažnai (80–99%)
Apnea	Kartais (5–29%)
Breathing difficulty	Kartais (5–29%)
Episodic difficulty breathing	Kartais (5–29%)
Rapid breathing	Kartais (5–29%)

Abnormal cellular phenotype

Trait	Kaip dažnai pasireiškia
Decreased activity of mitochondrial complex I	Visada
Abnormal mitochondria in muscle tissue	Labai dažnai (80–99%)
Mitochondrial respiratory chain defects	Labai dažnai (80–99%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Proximal tubulopathy	Labai dažnai (80–99%)
Abnormal renal tubule morphology	Kartais (5–29%)
Multiple glomerular cysts	Kartais (5–29%)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormally small head	Kartais (5–29%)
Central retinal vessel vascular tortuosity	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight	Labai dažnai (80–99%)
Prenatal growth deficiency	Labai dažnai (80–99%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Fetal distress	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Labai dažnai (80–99%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MT-ND2 and how often each is seen. Find out more at hpo.jax.org.

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