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

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Crease in skin under the eye	Alati
Decreased volume of lip	Alati
Depressed nasal bridge	Alati
Little foramen magnum	Alati
Little lower jaw	Alati
Short nose	Alati
Underdeveloped tissue around nostril	Alati
Narrow mouth	Väga sageli (80–99%)
Prominent forehead	Väga sageli (80–99%)
Thick eyebrow	Väga sageli (80–99%)
Abnormal facial shape	Harva (1–4%)
Hairy forehead	Harva (1–4%)
High forehead	Harva (1–4%)
Big lower jaw	Pole registreeritud
Dry eye syndrome	Pole registreeritud
Flat forehead	Pole registreeritud
Long philtrum	Pole registreeritud
Midface retrusion	Pole registreeritud

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Low blood sugar	Alati
Abnormal circulating enzyme concentration or activity	Väga sageli (80–99%)
High urine lactic acid levels	Väga sageli (80–99%)
Higher than normal levels of lactate in blood	Väga sageli (80–99%)
Increased CSF lactate	Väga sageli (80–99%)
Increased lactate in body	Väga sageli (80–99%)
Low blood sugar when fasting	Väga sageli (80–99%)
Complex organic aciduria	Sageli (30–79%)
3-Methylglutaconic aciduria	Mõnikord (5–29%)
Decreased circulating biotinidase concentration	Mõnikord (5–29%)
Ethylmalonic aciduria	Mõnikord (5–29%)
Generalized aminoaciduria	Mõnikord (5–29%)
Increased blood alanine	Mõnikord (5–29%)
Ketoacidosis	Mõnikord (5–29%)
Methylmalonic aciduria	Mõnikord (5–29%)
Accumulation of acid in body due to kidney problem	Harva (1–4%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Clouding of the lens of the eye	Alati
Farsightedness	Alati
Involuntary, rapid, rhythmic eye movements	Alati
Clouding of the lens of the eye at birth	Väga sageli (80–99%)
Eye muscle paralysis	Sageli (30–79%)
Optic atrophy	Sageli (30–79%)
Optic nerve issue	Sageli (30–79%)
Drooping upper eyelid	Mõnikord (5–29%)
Cross-eyed	Pole registreeritud
Deeply set eye	Pole registreeritud
Horizontal nystagmus	Pole registreeritud
Inward turning cross eyed	Pole registreeritud

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Flared wide portion of long bone	Alati
Hip dislocation	Alati
Irregular wide portion of a long bone	Alati
Knock knees	Väga sageli (80–99%)
Dislocated hip since birth	Sageli (30–79%)
Dropped arches	Pole registreeritud
Short fingers or toes	Pole registreeritud
Tapered finger	Pole registreeritud

Abnormal cellular phenotype

Trait	Kui sageli seda täheldatakse
Decreased activity of mitochondrial complex I	Sageli (30–79%)
Decreased activity of mitochondrial respiratory chain	Sageli (30–79%)
Decreased activity of the pyruvate dehydrogenase complex	Sageli (30–79%)
Decreased activity of mitochondrial complex III	Mõnikord (5–29%)
Decreased activity of mitochondrial complex IV	Mõnikord (5–29%)
Decreased activity of mitochondrial complex II	Harva (1–4%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Achalasia	Väga sageli (80–99%)
Feeding difficulties	Sageli (30–79%)
Liver failure	Mõnikord (5–29%)
Poor swallowing	Mõnikord (5–29%)
Gastrointestinal dysmotility	Harva (1–4%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Alati
Bilateral sensorineural hearing impairment	Väga sageli (80–99%)
Prelingual sensorineural hearing impairment	Väga sageli (80–99%)
Progressive sensorineural hearing impairment	Väga sageli (80–99%)
Large ears	Harva (1–4%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Telangiectasia of the skin	Alati
Enlarged and thickened heart muscle	Sageli (30–79%)
Cardiac failure	Mõnikord (5–29%)
Hole in heart wall separating two lower heart chambers	Harva (1–4%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Poikiloderma	Alati
Periarticular subcutaneous nodules	Väga sageli (80–99%)
Excessive hair growth	Sageli (30–79%)
Hair loss	Harva (1–4%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Growth delay	Alati
Short stature	Alati
Faltering weight	Sageli (30–79%)
Prenatal growth deficiency	Harva (1–4%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Low number of red blood cells or hemoglobin	Mõnikord (5–29%)
Low blood neutrophil count	Harva (1–4%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Decreased response to growth hormone stimulation test	Alati
Central adrenal insufficiency	Pole registreeritud

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Abnormal function of filtrating structures in kidney	Harva (1–4%)
Nephrotic syndrome	Harva (1–4%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Severe viral infection	Sageli (30–79%)
Eczema	Harva (1–4%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Abnormal pattern of respiration	Mõnikord (5–29%)
Respiratory failure	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Feet or buttocks of fetus positioned near opening of uterus	Alati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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