Požymiai

Su MT-ND6 susiję požymiai

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

Žmogaus fenotipo ontologija sieja 155 požymių su MT-ND6, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

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

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
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%)
Damaged optic nerve	Dažnai (30–79%)
Optic atrophy	Dažnai (30–79%)
Pigmentary retinopathy	Dažnai (30–79%)
Progressive loss of vision	Dažnai (30–79%)
Visual loss	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%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Progressive external ophthalmoplegia	Kartais (5–29%)
Reduced contrast sensitivity	Kartais (5–29%)
Retinal nerve fiber edema	Kartais (5–29%)
Rod-cone dystrophy	Kartais (5–29%)
Cerebral visual impairment	Neužfiksuota
Clouding of the lens of the eye at birth	Neužfiksuota
Eye muscle paralysis	Neužfiksuota
Hemianopia	Neužfiksuota
Leber optic atrophy	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Stroke-like episode	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%)
Concentric hypertrophic cardiomyopathy	Kartais (5–29%)
Disease of the heart muscle	Kartais (5–29%)
Enlarged and thickened heart muscle	Kartais (5–29%)
Increased blood pressure in blood vessels of lungs	Kartais (5–29%)
Redness of skin or mucous membrane	Kartais (5–29%)
Stretched and thinned heart muscle	Kartais (5–29%)
Ventricular preexcitation	Kartais (5–29%)
Wolff-Parkinson-White syndrome	Kartais (5–29%)
Abnormal left ventricular function	Neužfiksuota
Cardiac failure	Neužfiksuota
High blood pressure	Neužfiksuota
Left ventricular hypertrophy	Neužfiksuota

Laboratory abnormality

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

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Episodic vomiting	Dažnai (30–79%)
Vomiting	Dažnai (30–79%)
Constipation	Kartais (5–29%)
Diarrhea	Kartais (5–29%)
Enlarged liver	Kartais (5–29%)
Gastrointestinal dysmotility	Kartais (5–29%)
Intestinal pseudo-obstruction	Kartais (5–29%)
Liver failure	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)
Recurring pancreas inflammation	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Muscle weakness	Labai dažnai (80–99%)
Ragged-red muscle fibers	Labai dažnai (80–99%)
Basal ganglia calcification	Dažnai (30–79%)
Decreased muscle tone in infant	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Muscle tissue disease	Dažnai (30–79%)
Spasticity and rigidity of muscles	Dažnai (30–79%)
Mitochondrial myopathy	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal renal tubule morphology	Kartais (5–29%)
Focal segmental glomerulosclerosis	Kartais (5–29%)
Kidney damage	Kartais (5–29%)
Multiple glomerular cysts	Kartais (5–29%)
Proximal tubulopathy	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Apnea	Kartais (5–29%)
Breathing difficulty	Kartais (5–29%)
Episodic difficulty breathing	Kartais (5–29%)
Rapid breathing	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Dažnai (30–79%)
Bilateral sensorineural hearing impairment	Neužfiksuota
Progressive sensorineural hearing impairment	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased parathyroid hormone secretion	Retai (1–4 %)
Hypogonadotropic hypogonadism	Retai (1–4 %)
Underactive thyroid	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Growth abnormality	Neužfiksuota

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Abnormal mitochondria in muscle tissue	Labai dažnai (80–99%)
Mitochondrial respiratory chain defects	Labai dažnai (80–99%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Blotchy loss of skin color	Kartais (5–29%)
Excessive hair growth	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Low number of red blood cells or hemoglobin	Kartais (5–29%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Central retinal vessel vascular tortuosity	Neužfiksuota

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Decreased ability to exercise	Kartais (5–29%)

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

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su MT-ND6 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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