Kenmerken

Kenmerken gekoppeld aan MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

De Human Phenotype Ontology koppelt 144 kenmerken aan MT-ND4, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

MT-ND4

Abnormality of the nervous system

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

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Slow decrease in sharpness of vision	Heel vaak (80–99%)
Blind spot located at fixation point	Vaak (30–79%)
Blurred vision	Vaak (30–79%)
Centrocecal scotoma	Vaak (30–79%)
Damaged optic nerve	Vaak (30–79%)
Optic atrophy	Vaak (30–79%)
Pigmentary retinopathy	Vaak (30–79%)
Progressive loss of vision	Vaak (30–79%)
Visual loss	Vaak (30–79%)
Weakness of muscles controlling eye movement	Vaak (30–79%)
Abnormal color vision	Soms (5–29%)
Abnormal electroretinogram	Soms (5–29%)
Abnormality of visual evoked potentials	Soms (5–29%)
Involuntary, rapid, rhythmic eye movements	Soms (5–29%)
Progressive external ophthalmoplegia	Soms (5–29%)
Reduced contrast sensitivity	Soms (5–29%)
Retinal nerve fiber edema	Soms (5–29%)
Rod-cone dystrophy	Soms (5–29%)
Leber optic atrophy	Niet vastgelegd

Laboratory abnormality

Kenmerk	Hoe vaak het voorkomt
Abnormality of Krebs cycle metabolism	Heel vaak (80–99%)
Higher than normal levels of lactate in blood	Heel vaak (80–99%)
Increased CSF lactate	Heel vaak (80–99%)
Increased lactate in body	Heel vaak (80–99%)
Diabetes mellitus	Vaak (30–79%)
High urine lactic acid levels	Vaak (30–79%)
Increased CSF protein concentration	Vaak (30–79%)
Fever	Soms (5–29%)
High urine protein levels	Soms (5–29%)
Hypothermia	Soms (5–29%)
Increased blood alanine	Soms (5–29%)
Noninsulin-dependent diabetes	Soms (5–29%)
Type 1 diabetes	Soms (5–29%)
Decreased circulating citrulline concentration	Zelden (1–4%)

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
Stroke-like episode	Heel vaak (80–99%)
Retinal telangiectasia	Vaak (30–79%)
Retinal vascular tortuosity	Vaak (30–79%)
Abnormal heart rate	Soms (5–29%)
Cardiac conduction abnormality	Soms (5–29%)
Concentric hypertrophic cardiomyopathy	Soms (5–29%)
Disease of the heart muscle	Soms (5–29%)
Enlarged and thickened heart muscle	Soms (5–29%)
Increased blood pressure in blood vessels of lungs	Soms (5–29%)
Redness of skin or mucous membrane	Soms (5–29%)
Stretched and thinned heart muscle	Soms (5–29%)
Ventricular preexcitation	Soms (5–29%)
Wolff-Parkinson-White syndrome	Soms (5–29%)

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Episodic vomiting	Vaak (30–79%)
Vomiting	Vaak (30–79%)
Constipation	Soms (5–29%)
Diarrhea	Soms (5–29%)
Enlarged liver	Soms (5–29%)
Gastrointestinal dysmotility	Soms (5–29%)
Intestinal pseudo-obstruction	Soms (5–29%)
Liver failure	Soms (5–29%)
Poor swallowing	Soms (5–29%)
Recurring pancreas inflammation	Soms (5–29%)

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Muscle weakness	Heel vaak (80–99%)
Ragged-red muscle fibers	Heel vaak (80–99%)
Basal ganglia calcification	Vaak (30–79%)
Decreased muscle tone in infant	Vaak (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Vaak (30–79%)
Muscle tissue disease	Vaak (30–79%)
Spasticity and rigidity of muscles	Vaak (30–79%)
Mitochondrial myopathy	Soms (5–29%)

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Abnormal renal tubule morphology	Soms (5–29%)
Focal segmental glomerulosclerosis	Soms (5–29%)
Kidney damage	Soms (5–29%)
Multiple glomerular cysts	Soms (5–29%)
Proximal tubulopathy	Soms (5–29%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Apnea	Soms (5–29%)
Breathing difficulty	Soms (5–29%)
Episodic difficulty breathing	Soms (5–29%)
Rapid breathing	Soms (5–29%)

Abnormality of the endocrine system

Kenmerk	Hoe vaak het voorkomt
Decreased parathyroid hormone secretion	Zelden (1–4%)
Hypogonadotropic hypogonadism	Zelden (1–4%)
Underactive thyroid	Zelden (1–4%)

Abnormal cellular phenotype

Kenmerk	Hoe vaak het voorkomt
Abnormal mitochondria in muscle tissue	Heel vaak (80–99%)
Mitochondrial respiratory chain defects	Heel vaak (80–99%)

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Blotchy loss of skin color	Soms (5–29%)
Excessive hair growth	Soms (5–29%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Faltering weight	Vaak (30–79%)
Short stature	Vaak (30–79%)

Abnormality of blood and blood-forming tissues

Kenmerk	Hoe vaak het voorkomt
Low number of red blood cells or hemoglobin	Soms (5–29%)

Abnormality of head or neck

Kenmerk	Hoe vaak het voorkomt
Central retinal vessel vascular tortuosity	Niet vastgelegd

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Sensorineural hearing impairment	Vaak (30–79%)

Constitutional symptom

Kenmerk	Hoe vaak het voorkomt
Decreased ability to exercise	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan MT-ND4 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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