Kjennetegn

Kjennetegn knyttet til MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

Human Phenotype Ontology knytter 144 kjennetegn til MT-ND4, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of the nervous system

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

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Slow decrease in sharpness of vision	Svært ofte (80–99 %)
Blind spot located at fixation point	Ofte (30–79 %)
Blurred vision	Ofte (30–79 %)
Centrocecal scotoma	Ofte (30–79 %)
Damaged optic nerve	Ofte (30–79 %)
Optic atrophy	Ofte (30–79 %)
Pigmentary retinopathy	Ofte (30–79 %)
Progressive loss of vision	Ofte (30–79 %)
Visual loss	Ofte (30–79 %)
Weakness of muscles controlling eye movement	Ofte (30–79 %)
Abnormal color vision	Noen ganger (5–29 %)
Abnormal electroretinogram	Noen ganger (5–29 %)
Abnormality of visual evoked potentials	Noen ganger (5–29 %)
Involuntary, rapid, rhythmic eye movements	Noen ganger (5–29 %)
Progressive external ophthalmoplegia	Noen ganger (5–29 %)
Reduced contrast sensitivity	Noen ganger (5–29 %)
Retinal nerve fiber edema	Noen ganger (5–29 %)
Rod-cone dystrophy	Noen ganger (5–29 %)
Leber optic atrophy	Ikke registrert

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Abnormality of Krebs cycle metabolism	Svært ofte (80–99 %)
Higher than normal levels of lactate in blood	Svært ofte (80–99 %)
Increased CSF lactate	Svært ofte (80–99 %)
Increased lactate in body	Svært ofte (80–99 %)
Diabetes mellitus	Ofte (30–79 %)
High urine lactic acid levels	Ofte (30–79 %)
Increased CSF protein concentration	Ofte (30–79 %)
Fever	Noen ganger (5–29 %)
High urine protein levels	Noen ganger (5–29 %)
Hypothermia	Noen ganger (5–29 %)
Increased blood alanine	Noen ganger (5–29 %)
Noninsulin-dependent diabetes	Noen ganger (5–29 %)
Type 1 diabetes	Noen ganger (5–29 %)
Decreased circulating citrulline concentration	Sjelden (1–4%)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Stroke-like episode	Svært ofte (80–99 %)
Retinal telangiectasia	Ofte (30–79 %)
Retinal vascular tortuosity	Ofte (30–79 %)
Abnormal heart rate	Noen ganger (5–29 %)
Cardiac conduction abnormality	Noen ganger (5–29 %)
Concentric hypertrophic cardiomyopathy	Noen ganger (5–29 %)
Disease of the heart muscle	Noen ganger (5–29 %)
Enlarged and thickened heart muscle	Noen ganger (5–29 %)
Increased blood pressure in blood vessels of lungs	Noen ganger (5–29 %)
Redness of skin or mucous membrane	Noen ganger (5–29 %)
Stretched and thinned heart muscle	Noen ganger (5–29 %)
Ventricular preexcitation	Noen ganger (5–29 %)
Wolff-Parkinson-White syndrome	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Episodic vomiting	Ofte (30–79 %)
Vomiting	Ofte (30–79 %)
Constipation	Noen ganger (5–29 %)
Diarrhea	Noen ganger (5–29 %)
Enlarged liver	Noen ganger (5–29 %)
Gastrointestinal dysmotility	Noen ganger (5–29 %)
Intestinal pseudo-obstruction	Noen ganger (5–29 %)
Liver failure	Noen ganger (5–29 %)
Poor swallowing	Noen ganger (5–29 %)
Recurring pancreas inflammation	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Muscle weakness	Svært ofte (80–99 %)
Ragged-red muscle fibers	Svært ofte (80–99 %)
Basal ganglia calcification	Ofte (30–79 %)
Decreased muscle tone in infant	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Muscle tissue disease	Ofte (30–79 %)
Spasticity and rigidity of muscles	Ofte (30–79 %)
Mitochondrial myopathy	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Abnormal renal tubule morphology	Noen ganger (5–29 %)
Focal segmental glomerulosclerosis	Noen ganger (5–29 %)
Kidney damage	Noen ganger (5–29 %)
Multiple glomerular cysts	Noen ganger (5–29 %)
Proximal tubulopathy	Noen ganger (5–29 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Apnea	Noen ganger (5–29 %)
Breathing difficulty	Noen ganger (5–29 %)
Episodic difficulty breathing	Noen ganger (5–29 %)
Rapid breathing	Noen ganger (5–29 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Decreased parathyroid hormone secretion	Sjelden (1–4%)
Hypogonadotropic hypogonadism	Sjelden (1–4%)
Underactive thyroid	Sjelden (1–4%)

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Abnormal mitochondria in muscle tissue	Svært ofte (80–99 %)
Mitochondrial respiratory chain defects	Svært ofte (80–99 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Blotchy loss of skin color	Noen ganger (5–29 %)
Excessive hair growth	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Faltering weight	Ofte (30–79 %)
Short stature	Ofte (30–79 %)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Low number of red blood cells or hemoglobin	Noen ganger (5–29 %)

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Central retinal vessel vascular tortuosity	Ikke registrert

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Sensorineural hearing impairment	Ofte (30–79 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Decreased ability to exercise	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til MT-ND4 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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