Traits

Traits linked to MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

The Human Phenotype Ontology links 144 traits to MT-ND4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Absent/small cerebral white matter	Väga sageli (80–99%)
Dementia	Väga sageli (80–99%)
Difficulty finding words	Väga sageli (80–99%)
EEG abnormality	Väga sageli (80–99%)
Epilepsy	Väga sageli (80–99%)
Migraine	Väga sageli (80–99%)
Widened cerebral subarachnoid space	Väga sageli (80–99%)
Abnormal gait	Sageli (30–79%)
Anxiety	Sageli (30–79%)
Ataxia	Sageli (30–79%)
Chorea	Sageli (30–79%)
Depression	Sageli (30–79%)
Disorder of involuntary muscle movements	Sageli (30–79%)
Dystonia	Sageli (30–79%)
Encephalopathy	Sageli (30–79%)
Fluctuations in consciousness	Sageli (30–79%)
Focal T2 hyperintense basal ganglia lesion	Sageli (30–79%)
Generalized myoclonic seizure	Sageli (30–79%)
Grand mal seizures	Sageli (30–79%)
Impaired visuospatial constructive cognition	Sageli (30–79%)
Inability to coordinate movements when walking	Sageli (30–79%)
Jerking	Sageli (30–79%)
Memory impairment	Sageli (30–79%)
Nerve damage causing decreased feeling and movement	Sageli (30–79%)
Peripheral neuropathy	Sageli (30–79%)
Psychosis	Sageli (30–79%)
Recurrent paroxysmal headache	Sageli (30–79%)
Seizure affecting one half of brain	Sageli (30–79%)
Severe global developmental delay	Sageli (30–79%)
Short attention span	Sageli (30–79%)
Specific learning disability	Sageli (30–79%)
Weakness of one side of body	Sageli (30–79%)
Abnormal central motor function	Mõnikord (5–29%)
Abnormal prosody	Mõnikord (5–29%)
Agenesis of corpus callosum	Mõnikord (5–29%)
Bipolar disorder	Mõnikord (5–29%)
Brain degeneration	Mõnikord (5–29%)
Bulbar signs	Mõnikord (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Mõnikord (5–29%)
Decreased reflex response	Mõnikord (5–29%)
Demyelinating peripheral neuropathy	Mõnikord (5–29%)
Distal peripheral sensory neuropathy	Mõnikord (5–29%)
Disturbances of consciousness	Mõnikord (5–29%)
Elevated brain lactate level by MRS	Mõnikord (5–29%)
Global developmental delay	Mõnikord (5–29%)
Increased reflexes	Mõnikord (5–29%)
Infantile spasms	Mõnikord (5–29%)
Loss of developmental milestones	Mõnikord (5–29%)
Mixed demyelinating and axonal polyneuropathy	Mõnikord (5–29%)
Motor delay	Mõnikord (5–29%)
Peripheral axonal neuropathy	Mõnikord (5–29%)
Personality changes	Mõnikord (5–29%)
Postural tremor	Mõnikord (5–29%)
Psychotic mentation	Mõnikord (5–29%)
Segmental peripheral demyelination/remyelination	Mõnikord (5–29%)
Stuttering	Mõnikord (5–29%)
Underdevelopment of part of brain called corpus callosum	Mõnikord (5–29%)
Peripheral nerve disease	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Slow decrease in sharpness of vision	Väga sageli (80–99%)
Blind spot located at fixation point	Sageli (30–79%)
Blurred vision	Sageli (30–79%)
Centrocecal scotoma	Sageli (30–79%)
Damaged optic nerve	Sageli (30–79%)
Optic atrophy	Sageli (30–79%)
Pigmentary retinopathy	Sageli (30–79%)
Progressive loss of vision	Sageli (30–79%)
Visual loss	Sageli (30–79%)
Weakness of muscles controlling eye movement	Sageli (30–79%)
Abnormal color vision	Mõnikord (5–29%)
Abnormal electroretinogram	Mõnikord (5–29%)
Abnormality of visual evoked potentials	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Progressive external ophthalmoplegia	Mõnikord (5–29%)
Reduced contrast sensitivity	Mõnikord (5–29%)
Retinal nerve fiber edema	Mõnikord (5–29%)
Rod-cone dystrophy	Mõnikord (5–29%)
Leber optic atrophy	Pole registreeritud

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Abnormality of Krebs cycle metabolism	Väga sageli (80–99%)
Higher than normal levels of lactate in blood	Väga sageli (80–99%)
Increased CSF lactate	Väga sageli (80–99%)
Increased lactate in body	Väga sageli (80–99%)
Diabetes mellitus	Sageli (30–79%)
High urine lactic acid levels	Sageli (30–79%)
Increased CSF protein concentration	Sageli (30–79%)
Fever	Mõnikord (5–29%)
High urine protein levels	Mõnikord (5–29%)
Hypothermia	Mõnikord (5–29%)
Increased blood alanine	Mõnikord (5–29%)
Noninsulin-dependent diabetes	Mõnikord (5–29%)
Type 1 diabetes	Mõnikord (5–29%)
Decreased circulating citrulline concentration	Harva (1–4%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Stroke-like episode	Väga sageli (80–99%)
Retinal telangiectasia	Sageli (30–79%)
Retinal vascular tortuosity	Sageli (30–79%)
Abnormal heart rate	Mõnikord (5–29%)
Cardiac conduction abnormality	Mõnikord (5–29%)
Concentric hypertrophic cardiomyopathy	Mõnikord (5–29%)
Disease of the heart muscle	Mõnikord (5–29%)
Enlarged and thickened heart muscle	Mõnikord (5–29%)
Increased blood pressure in blood vessels of lungs	Mõnikord (5–29%)
Redness of skin or mucous membrane	Mõnikord (5–29%)
Stretched and thinned heart muscle	Mõnikord (5–29%)
Ventricular preexcitation	Mõnikord (5–29%)
Wolff-Parkinson-White syndrome	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Episodic vomiting	Sageli (30–79%)
Vomiting	Sageli (30–79%)
Constipation	Mõnikord (5–29%)
Diarrhea	Mõnikord (5–29%)
Enlarged liver	Mõnikord (5–29%)
Gastrointestinal dysmotility	Mõnikord (5–29%)
Intestinal pseudo-obstruction	Mõnikord (5–29%)
Liver failure	Mõnikord (5–29%)
Poor swallowing	Mõnikord (5–29%)
Recurring pancreas inflammation	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Muscle weakness	Väga sageli (80–99%)
Ragged-red muscle fibers	Väga sageli (80–99%)
Basal ganglia calcification	Sageli (30–79%)
Decreased muscle tone in infant	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Muscle tissue disease	Sageli (30–79%)
Spasticity and rigidity of muscles	Sageli (30–79%)
Mitochondrial myopathy	Mõnikord (5–29%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Abnormal renal tubule morphology	Mõnikord (5–29%)
Focal segmental glomerulosclerosis	Mõnikord (5–29%)
Kidney damage	Mõnikord (5–29%)
Multiple glomerular cysts	Mõnikord (5–29%)
Proximal tubulopathy	Mõnikord (5–29%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Apnea	Mõnikord (5–29%)
Breathing difficulty	Mõnikord (5–29%)
Episodic difficulty breathing	Mõnikord (5–29%)
Rapid breathing	Mõnikord (5–29%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Decreased parathyroid hormone secretion	Harva (1–4%)
Hypogonadotropic hypogonadism	Harva (1–4%)
Underactive thyroid	Harva (1–4%)

Abnormal cellular phenotype

Trait	Kui sageli seda täheldatakse
Abnormal mitochondria in muscle tissue	Väga sageli (80–99%)
Mitochondrial respiratory chain defects	Väga sageli (80–99%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Blotchy loss of skin color	Mõnikord (5–29%)
Excessive hair growth	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Short stature	Sageli (30–79%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Low number of red blood cells or hemoglobin	Mõnikord (5–29%)

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Central retinal vessel vascular tortuosity	Pole registreeritud

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Sageli (30–79%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Decreased ability to exercise	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MT-ND4 and how often each is seen. Find out more at hpo.jax.org.

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