Požymiai

Su IARS2 susiję požymiai

isoleucyl-tRNA synthetase 2, mitochondrial

Žmogaus fenotipo ontologija sieja 164 požymių su IARS2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Decreased sensation in extremities	Visada
Motor delay	Visada
Pain insensitivity	Visada
Peripheral neuropathy	Visada
Too much cerebrospinal fluid in the brain	Visada
Abnormality of movement	Labai dažnai (80–99%)
Abnormal basal ganglia MRI signal intensity	Dažnai (30–79%)
Abnormal brainstem MRI signal intensity	Dažnai (30–79%)
Abnormal dentate nucleus morphology	Dažnai (30–79%)
Abnormal thalamic MRI signal intensity	Dažnai (30–79%)
Brain imaging abnormality	Dažnai (30–79%)
Diffuse spongiform leukoencephalopathy	Dažnai (30–79%)
Elevated brain lactate level by MRS	Dažnai (30–79%)
Focal T2 hyperintense basal ganglia lesion	Dažnai (30–79%)
Focal T2 hyperintense brainstem lesion	Dažnai (30–79%)
Gliosis	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Involuntary movements	Dažnai (30–79%)
Leukodystrophy	Dažnai (30–79%)
Loss of developmental milestones	Dažnai (30–79%)
Upper motor neuron dysfunction	Dažnai (30–79%)
Worsening neurological symptoms	Dažnai (30–79%)
Abnormality of extrapyramidal motor function	Kartais (5–29%)
Agenesis of corpus callosum	Kartais (5–29%)
Ataxia	Kartais (5–29%)
Chorea	Kartais (5–29%)
Choreoathetosis	Kartais (5–29%)
Dystonia	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Hyperactive movements	Kartais (5–29%)
Hypsarrhythmia	Kartais (5–29%)
Involuntary writhing movements in fingers, hands, toes, and feet	Kartais (5–29%)
Neuronal loss in basal ganglia	Kartais (5–29%)
Olivopontocerebellar atrophy	Kartais (5–29%)
Sensory axonal neuropathy	Kartais (5–29%)
Underdevelopment of part of brain called corpus callosum	Kartais (5–29%)
Degeneration of cerebellum	Retai (1–4 %)
Disorder of involuntary muscle movements	Retai (1–4 %)
Encephalomalacia	Retai (1–4 %)
Infantile spasms	Retai (1–4 %)
Repeated seizures without recovery between them	Retai (1–4 %)
Damage to nerves that sense feeling	Neužfiksuota
Decrease in size of the outer layer of the brain due to loss of brain cells	Neužfiksuota
Decreased reflex response	Neužfiksuota
Nerve damage causing decreased feeling and movement	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Coronal cleft vertebrae	Visada
Delayed maturation of end part of long bone	Visada
Double-Jointed	Visada
Low muscle tone	Visada
Scoliosis	Visada
Short long bone	Visada
Shorter than typical length between neck and abdomen	Visada
Spondyloepimetaphyseal dysplasia	Visada
Abnormal skeletal development	Labai dažnai (80–99%)
Cervical spinal canal stenosis	Labai dažnai (80–99%)
Decreased muscle tone in infant	Labai dažnai (80–99%)
Narrow spinal canal	Labai dažnai (80–99%)
Spondyloepiphyseal dysplasia	Labai dažnai (80–99%)
Thoracic kyphoscoliosis	Labai dažnai (80–99%)
Hypoplasia of the odontoid process	Dažnai (30–79%)
Abnormality of the skeletal system	Kartais (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Multiple joint contractures	Kartais (5–29%)
Muscle degeneration	Kartais (5–29%)
Muscle tissue disease	Kartais (5–29%)
Muscle weakness	Kartais (5–29%)
Spastic diplegia	Kartais (5–29%)
Weakness of outermost muscles	Kartais (5–29%)
Flexed joint that cannot be straightened	Neužfiksuota
Osteopenia	Neužfiksuota
Prominent swayback	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Crease in skin under the eye	Visada
Decreased volume of lip	Visada
Depressed nasal bridge	Visada
Little foramen magnum	Visada
Little lower jaw	Visada
Short nose	Visada
Underdeveloped tissue around nostril	Visada
Narrow mouth	Labai dažnai (80–99%)
Prominent forehead	Labai dažnai (80–99%)
Thick eyebrow	Labai dažnai (80–99%)
Abnormal facial shape	Retai (1–4 %)
Hairy forehead	Retai (1–4 %)
High forehead	Retai (1–4 %)
Big lower jaw	Neužfiksuota
Dry eye syndrome	Neužfiksuota
Flat forehead	Neužfiksuota
Long philtrum	Neužfiksuota
Midface retrusion	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Low blood sugar	Visada
Abnormal circulating enzyme concentration or activity	Labai dažnai (80–99%)
High urine lactic acid levels	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%)
Low blood sugar when fasting	Labai dažnai (80–99%)
Complex organic aciduria	Dažnai (30–79%)
3-Methylglutaconic aciduria	Kartais (5–29%)
Decreased circulating biotinidase concentration	Kartais (5–29%)
Ethylmalonic aciduria	Kartais (5–29%)
Generalized aminoaciduria	Kartais (5–29%)
Increased blood alanine	Kartais (5–29%)
Ketoacidosis	Kartais (5–29%)
Methylmalonic aciduria	Kartais (5–29%)
Accumulation of acid in body due to kidney problem	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Clouding of the lens of the eye	Visada
Farsightedness	Visada
Involuntary, rapid, rhythmic eye movements	Visada
Clouding of the lens of the eye at birth	Labai dažnai (80–99%)
Eye muscle paralysis	Dažnai (30–79%)
Optic atrophy	Dažnai (30–79%)
Optic nerve issue	Dažnai (30–79%)
Drooping upper eyelid	Kartais (5–29%)
Cross-eyed	Neužfiksuota
Deeply set eye	Neužfiksuota
Horizontal nystagmus	Neužfiksuota
Inward turning cross eyed	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Flared wide portion of long bone	Visada
Hip dislocation	Visada
Irregular wide portion of a long bone	Visada
Knock knees	Labai dažnai (80–99%)
Dislocated hip since birth	Dažnai (30–79%)
Dropped arches	Neužfiksuota
Short fingers or toes	Neužfiksuota
Tapered finger	Neužfiksuota

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased activity of mitochondrial complex I	Dažnai (30–79%)
Decreased activity of mitochondrial respiratory chain	Dažnai (30–79%)
Decreased activity of the pyruvate dehydrogenase complex	Dažnai (30–79%)
Decreased activity of mitochondrial complex III	Kartais (5–29%)
Decreased activity of mitochondrial complex IV	Kartais (5–29%)
Decreased activity of mitochondrial complex II	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Achalasia	Labai dažnai (80–99%)
Feeding difficulties	Dažnai (30–79%)
Liver failure	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)
Gastrointestinal dysmotility	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Visada
Bilateral sensorineural hearing impairment	Labai dažnai (80–99%)
Prelingual sensorineural hearing impairment	Labai dažnai (80–99%)
Progressive sensorineural hearing impairment	Labai dažnai (80–99%)
Large ears	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Telangiectasia of the skin	Visada
Enlarged and thickened heart muscle	Dažnai (30–79%)
Cardiac failure	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Poikiloderma	Visada
Periarticular subcutaneous nodules	Labai dažnai (80–99%)
Excessive hair growth	Dažnai (30–79%)
Hair loss	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay	Visada
Short stature	Visada
Faltering weight	Dažnai (30–79%)
Prenatal growth deficiency	Retai (1–4 %)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Low number of red blood cells or hemoglobin	Kartais (5–29%)
Low blood neutrophil count	Retai (1–4 %)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased response to growth hormone stimulation test	Visada
Central adrenal insufficiency	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal function of filtrating structures in kidney	Retai (1–4 %)
Nephrotic syndrome	Retai (1–4 %)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Severe viral infection	Dažnai (30–79%)
Eczema	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormal pattern of respiration	Kartais (5–29%)
Respiratory failure	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Feet or buttocks of fetus positioned near opening of uterus	Visada

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 IARS2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

Vienas testas. Atsakymai visam gyvenimui.

Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites

Įsigyti savo Genome Test