Traits

Traits linked to IARS2

isoleucyl-tRNA synthetase 2, mitochondrial

The Human Phenotype Ontology links 164 traits to IARS2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

Trait	Cât de frecvent apare
Crease in skin under the eye	Întotdeauna
Decreased volume of lip	Întotdeauna
Depressed nasal bridge	Întotdeauna
Little foramen magnum	Întotdeauna
Little lower jaw	Întotdeauna
Short nose	Întotdeauna
Underdeveloped tissue around nostril	Întotdeauna
Narrow mouth	Foarte des (80–99%)
Prominent forehead	Foarte des (80–99%)
Thick eyebrow	Foarte des (80–99%)
Abnormal facial shape	Rar (1–4%)
Hairy forehead	Rar (1–4%)
High forehead	Rar (1–4%)
Big lower jaw	Neînregistrat
Dry eye syndrome	Neînregistrat
Flat forehead	Neînregistrat
Long philtrum	Neînregistrat
Midface retrusion	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
Low blood sugar	Întotdeauna
Abnormal circulating enzyme concentration or activity	Foarte des (80–99%)
High urine lactic acid levels	Foarte des (80–99%)
Higher than normal levels of lactate in blood	Foarte des (80–99%)
Increased CSF lactate	Foarte des (80–99%)
Increased lactate in body	Foarte des (80–99%)
Low blood sugar when fasting	Foarte des (80–99%)
Complex organic aciduria	Des (30–79%)
3-Methylglutaconic aciduria	Uneori (5–29%)
Decreased circulating biotinidase concentration	Uneori (5–29%)
Ethylmalonic aciduria	Uneori (5–29%)
Generalized aminoaciduria	Uneori (5–29%)
Increased blood alanine	Uneori (5–29%)
Ketoacidosis	Uneori (5–29%)
Methylmalonic aciduria	Uneori (5–29%)
Accumulation of acid in body due to kidney problem	Rar (1–4%)

Abnormality of the eye

Trait	Cât de frecvent apare
Clouding of the lens of the eye	Întotdeauna
Farsightedness	Întotdeauna
Involuntary, rapid, rhythmic eye movements	Întotdeauna
Clouding of the lens of the eye at birth	Foarte des (80–99%)
Eye muscle paralysis	Des (30–79%)
Optic atrophy	Des (30–79%)
Optic nerve issue	Des (30–79%)
Drooping upper eyelid	Uneori (5–29%)
Cross-eyed	Neînregistrat
Deeply set eye	Neînregistrat
Horizontal nystagmus	Neînregistrat
Inward turning cross eyed	Neînregistrat

Abnormality of limbs

Trait	Cât de frecvent apare
Flared wide portion of long bone	Întotdeauna
Hip dislocation	Întotdeauna
Irregular wide portion of a long bone	Întotdeauna
Knock knees	Foarte des (80–99%)
Dislocated hip since birth	Des (30–79%)
Dropped arches	Neînregistrat
Short fingers or toes	Neînregistrat
Tapered finger	Neînregistrat

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Decreased activity of mitochondrial complex I	Des (30–79%)
Decreased activity of mitochondrial respiratory chain	Des (30–79%)
Decreased activity of the pyruvate dehydrogenase complex	Des (30–79%)
Decreased activity of mitochondrial complex III	Uneori (5–29%)
Decreased activity of mitochondrial complex IV	Uneori (5–29%)
Decreased activity of mitochondrial complex II	Rar (1–4%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Achalasia	Foarte des (80–99%)
Feeding difficulties	Des (30–79%)
Liver failure	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)
Gastrointestinal dysmotility	Rar (1–4%)

Abnormality of the ear

Trait	Cât de frecvent apare
Sensorineural hearing impairment	Întotdeauna
Bilateral sensorineural hearing impairment	Foarte des (80–99%)
Prelingual sensorineural hearing impairment	Foarte des (80–99%)
Progressive sensorineural hearing impairment	Foarte des (80–99%)
Large ears	Rar (1–4%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Telangiectasia of the skin	Întotdeauna
Enlarged and thickened heart muscle	Des (30–79%)
Cardiac failure	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Rar (1–4%)

Abnormality of the integument

Trait	Cât de frecvent apare
Poikiloderma	Întotdeauna
Periarticular subcutaneous nodules	Foarte des (80–99%)
Excessive hair growth	Des (30–79%)
Hair loss	Rar (1–4%)

Growth abnormality

Trait	Cât de frecvent apare
Growth delay	Întotdeauna
Short stature	Întotdeauna
Faltering weight	Des (30–79%)
Prenatal growth deficiency	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Low number of red blood cells or hemoglobin	Uneori (5–29%)
Low blood neutrophil count	Rar (1–4%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Decreased response to growth hormone stimulation test	Întotdeauna
Central adrenal insufficiency	Neînregistrat

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Abnormal function of filtrating structures in kidney	Rar (1–4%)
Nephrotic syndrome	Rar (1–4%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Severe viral infection	Des (30–79%)
Eczema	Rar (1–4%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Abnormal pattern of respiration	Uneori (5–29%)
Respiratory failure	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Feet or buttocks of fetus positioned near opening of uterus	Întotdeauna

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

The Human Phenotype Ontology, release 2026-09-01: the traits linked to IARS2 and how often each is seen. Find out more at hpo.jax.org.

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