Kjennetegn

Kjennetegn knyttet til IARS2

isoleucyl-tRNA synthetase 2, mitochondrial

Human Phenotype Ontology knytter 164 kjennetegn til IARS2, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Crease in skin under the eye	Alltid
Decreased volume of lip	Alltid
Depressed nasal bridge	Alltid
Little foramen magnum	Alltid
Little lower jaw	Alltid
Short nose	Alltid
Underdeveloped tissue around nostril	Alltid
Narrow mouth	Svært ofte (80–99 %)
Prominent forehead	Svært ofte (80–99 %)
Thick eyebrow	Svært ofte (80–99 %)
Abnormal facial shape	Sjelden (1–4%)
Hairy forehead	Sjelden (1–4%)
High forehead	Sjelden (1–4%)
Big lower jaw	Ikke registrert
Dry eye syndrome	Ikke registrert
Flat forehead	Ikke registrert
Long philtrum	Ikke registrert
Midface retrusion	Ikke registrert

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Low blood sugar	Alltid
Abnormal circulating enzyme concentration or activity	Svært ofte (80–99 %)
High urine lactic acid levels	Svært ofte (80–99 %)
Higher than normal levels of lactate in blood	Svært ofte (80–99 %)
Increased CSF lactate	Svært ofte (80–99 %)
Increased lactate in body	Svært ofte (80–99 %)
Low blood sugar when fasting	Svært ofte (80–99 %)
Complex organic aciduria	Ofte (30–79 %)
3-Methylglutaconic aciduria	Noen ganger (5–29 %)
Decreased circulating biotinidase concentration	Noen ganger (5–29 %)
Ethylmalonic aciduria	Noen ganger (5–29 %)
Generalized aminoaciduria	Noen ganger (5–29 %)
Increased blood alanine	Noen ganger (5–29 %)
Ketoacidosis	Noen ganger (5–29 %)
Methylmalonic aciduria	Noen ganger (5–29 %)
Accumulation of acid in body due to kidney problem	Sjelden (1–4%)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Clouding of the lens of the eye	Alltid
Farsightedness	Alltid
Involuntary, rapid, rhythmic eye movements	Alltid
Clouding of the lens of the eye at birth	Svært ofte (80–99 %)
Eye muscle paralysis	Ofte (30–79 %)
Optic atrophy	Ofte (30–79 %)
Optic nerve issue	Ofte (30–79 %)
Drooping upper eyelid	Noen ganger (5–29 %)
Cross-eyed	Ikke registrert
Deeply set eye	Ikke registrert
Horizontal nystagmus	Ikke registrert
Inward turning cross eyed	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Flared wide portion of long bone	Alltid
Hip dislocation	Alltid
Irregular wide portion of a long bone	Alltid
Knock knees	Svært ofte (80–99 %)
Dislocated hip since birth	Ofte (30–79 %)
Dropped arches	Ikke registrert
Short fingers or toes	Ikke registrert
Tapered finger	Ikke registrert

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Decreased activity of mitochondrial complex I	Ofte (30–79 %)
Decreased activity of mitochondrial respiratory chain	Ofte (30–79 %)
Decreased activity of the pyruvate dehydrogenase complex	Ofte (30–79 %)
Decreased activity of mitochondrial complex III	Noen ganger (5–29 %)
Decreased activity of mitochondrial complex IV	Noen ganger (5–29 %)
Decreased activity of mitochondrial complex II	Sjelden (1–4%)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Achalasia	Svært ofte (80–99 %)
Feeding difficulties	Ofte (30–79 %)
Liver failure	Noen ganger (5–29 %)
Poor swallowing	Noen ganger (5–29 %)
Gastrointestinal dysmotility	Sjelden (1–4%)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Sensorineural hearing impairment	Alltid
Bilateral sensorineural hearing impairment	Svært ofte (80–99 %)
Prelingual sensorineural hearing impairment	Svært ofte (80–99 %)
Progressive sensorineural hearing impairment	Svært ofte (80–99 %)
Large ears	Sjelden (1–4%)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Telangiectasia of the skin	Alltid
Enlarged and thickened heart muscle	Ofte (30–79 %)
Cardiac failure	Noen ganger (5–29 %)
Hole in heart wall separating two lower heart chambers	Sjelden (1–4%)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Poikiloderma	Alltid
Periarticular subcutaneous nodules	Svært ofte (80–99 %)
Excessive hair growth	Ofte (30–79 %)
Hair loss	Sjelden (1–4%)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Growth delay	Alltid
Short stature	Alltid
Faltering weight	Ofte (30–79 %)
Prenatal growth deficiency	Sjelden (1–4%)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Low number of red blood cells or hemoglobin	Noen ganger (5–29 %)
Low blood neutrophil count	Sjelden (1–4%)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Decreased response to growth hormone stimulation test	Alltid
Central adrenal insufficiency	Ikke registrert

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Abnormal function of filtrating structures in kidney	Sjelden (1–4%)
Nephrotic syndrome	Sjelden (1–4%)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Severe viral infection	Ofte (30–79 %)
Eczema	Sjelden (1–4%)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Abnormal pattern of respiration	Noen ganger (5–29 %)
Respiratory failure	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
Feet or buttocks of fetus positioned near opening of uterus	Alltid

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til IARS2 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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