Tunnused

Geeniga WARS2 seotud tunnused

tryptophanyl tRNA synthetase 2, mitochondrial

Inimese fenotüübi ontoloogia seostab geeniga WARS2 96 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

WARS2

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Absent speech development	Alati
Action tremor	Alati
Aggressive behavior	Alati
Ataxia	Alati
Communication delay	Alati
Degeneration of cerebellum	Alati
Delayed CNS myelination	Alati
Difficulty articulating speech	Alati
Diffuse cerebral atrophy	Alati
Disorder of involuntary muscle movements	Alati
Dystonia	Alati
Generalized brain degeneration	Alati
Global developmental delay	Alati
Hyperactive movements	Alati
Increased reflexes	Alati
Intellectual disability	Alati
Involuntary writhing movements in fingers, hands, toes, and feet	Alati
Lack of coordination of movement	Alati
Leukoencephalopathy	Alati
Loss of developmental milestones	Alati
Multifocal seizures	Alati
Severe temper tantrums	Alati
Stooped posture	Alati
Tremor	Alati
Ventriculomegaly	Alati
Abnormality of movement	Väga sageli (80–99%)
Parkinsonism	Väga sageli (80–99%)
Abnormal gait	Sageli (30–79%)
Abnormal periventricular white matter morphology	Sageli (30–79%)
Abnormal pyramidal sign	Sageli (30–79%)
Abnormal speech pattern	Sageli (30–79%)
Anxiety	Sageli (30–79%)
Cerebral palsy	Sageli (30–79%)
Cerebral white matter hypoplasia	Sageli (30–79%)
Chorea	Sageli (30–79%)
Decreased muscle movement	Sageli (30–79%)
Degeneration of cerebrum	Sageli (30–79%)
Delayed myelination	Sageli (30–79%)
Depression	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
IQ between 34 and 49	Sageli (30–79%)
Irritability	Sageli (30–79%)
Limb dystonia	Sageli (30–79%)
Oculogyric crisis	Sageli (30–79%)
Orofacial dyskinesia	Sageli (30–79%)
Psychosis	Sageli (30–79%)
Slow movements	Sageli (30–79%)
Cerebellar vermis hypoplasia	Mõnikord (5–29%)
Dilated fourth ventricle	Mõnikord (5–29%)
IQ less than 20	Mõnikord (5–29%)
Lateral ventricle dilatation	Mõnikord (5–29%)
Poor social interactions	Mõnikord (5–29%)
Small brainstem	Mõnikord (5–29%)
Widened subarachnoid space	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Diffuse skeletal muscle wasting	Alati
Low muscle tone in trunk	Alati
Muscle weakness	Alati
Spastic tetraplegia	Alati
Spasticity and rigidity of muscles	Alati
Decreased muscle tone in infant	Väga sageli (80–99%)
Difficulty in standing	Mõnikord (5–29%)
Poor head control	Mõnikord (5–29%)
Muscle degeneration	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Involuntary, rapid, rhythmic eye movements	Alati
Lazy eye	Alati
Outward facing eye ball	Alati
Impaired smooth pursuit	Mõnikord (5–29%)
Rod-cone dystrophy	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)
Cross-eyed	Pole registreeritud
Optic atrophy	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Long philtrum	Alati
Decreased facial expressions	Sageli (30–79%)
Abnormal facial shape	Mõnikord (5–29%)
High palate	Mõnikord (5–29%)
Thin red part of the upper lip	Mõnikord (5–29%)
Wide nasal bridge	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Low blood sugar	Alati
Abnormal circulating carboxylic acid concentration	Sageli (30–79%)
Abnormal circulating enzyme concentration or activity	Sageli (30–79%)
Higher than normal levels of lactate in blood	Sageli (30–79%)
Increased lactate in body	Sageli (30–79%)
Low blood sugar in newborn	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Acid reflux	Sageli (30–79%)
Constipation	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Poor swallowing	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Increased muscle tone of arm or leg	Sageli (30–79%)
Positional foot deformity	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Growth delay	Sageli (30–79%)
Prenatal growth deficiency	Sageli (30–79%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Low platelet count	Alati

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Premature birth	Alati

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Disease of the heart muscle	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Low-set ears	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Collapsed lung	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

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga WARS2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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