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Traits

Traits linked to TK2

thymidine kinase 2

The Human Phenotype Ontology links 69 traits to TK2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Difficulty articulating speechSageli (30–79%)
Peripheral neuropathySageli (30–79%)
Pins and needles feelingSageli (30–79%)
Sensory axonal neuropathySageli (30–79%)
Abnormal cerebral white matter morphologyMõnikord (5–29%)
Abnormal cerebrospinal fluid morphologyMõnikord (5–29%)
Action tremorMõnikord (5–29%)
AtaxiaMõnikord (5–29%)
Decreased reflex responseMõnikord (5–29%)
Decreased sensation in extremitiesMõnikord (5–29%)
Degeneration of cerebellumMõnikord (5–29%)
Degeneration of cerebrumMõnikord (5–29%)
DepressionMõnikord (5–29%)
Parkinsonism with favorable response to dopaminergic medicationMõnikord (5–29%)
Shuffled walkMõnikord (5–29%)
Slow movementsMõnikord (5–29%)
Stooped postureMõnikord (5–29%)
Cognitive impairmentHarva (1–4%)
Abnormal basal ganglia morphologyPole registreeritud
Delayed motor skillsPole registreeritud
EpilepsyPole registreeritud
Inability to walkPole registreeritud
Intellectual disabilityPole registreeritud
IrritabilityPole registreeritud
Loss of ability to walk in early childhoodPole registreeritud

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Cytochrome C oxidase-negative muscle fibersAlati
Decreased lung function due to weak breathing musclesAlati
Generalized decreased muscle toneAlati
Mitochondrial myopathyAlati
Muscle degenerationAlati
Proximal neurogenic muscle weaknessAlati
Ragged-red muscle fibersAlati
Muscle tissue diseaseSageli (30–79%)
Cogwheel rigidityMõnikord (5–29%)
Muscle fiber degenerationMõnikord (5–29%)
Muscle stiffnessMõnikord (5–29%)
Diffuse skeletal muscle wastingPole registreeritud
EMG: myopathic abnormalitiesPole registreeritud
Gowers signPole registreeritud
Low muscle tonePole registreeritud

Abnormality of the eye

TraitKui sageli seda täheldatakse
Drooping upper eyelidAlati
Progressive external ophthalmoplegiaAlati
Paralysis or weakness of muscles within or surrounding outer part of eyeSageli (30–79%)
Color blindnessMõnikord (5–29%)
Optic atrophyMõnikord (5–29%)
Optic neuritisMõnikord (5–29%)
Retina issueMõnikord (5–29%)
Visual impairmentMõnikord (5–29%)

Abnormal cellular phenotype

TraitKui sageli seda täheldatakse
Depletion of mitochondrial DNA in muscle tissueAlati
Decreased activity of mitochondrial ATP synthase complexPole registreeritud
Decreased activity of mitochondrial complex IPole registreeritud
Decreased activity of mitochondrial complex IIIPole registreeritud
Decreased activity of mitochondrial complex IVPole registreeritud

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Bell's palsySageli (30–79%)
Expressionless faceSageli (30–79%)
Weakness of facial musculatureSageli (30–79%)
Facial diplegiaPole registreeritud

Laboratory abnormality

TraitKui sageli seda täheldatakse
Elevated blood creatine phosphokinaseAlati
Higher than normal levels of lactate in bloodSageli (30–79%)
Abnormal urinary amino-acid findingsPole registreeritud
Increased lactate in bodyPole registreeritud

Abnormality of limbs

TraitKui sageli seda täheldatakse
Winged shoulder bladeSageli (30–79%)
Hand muscle weaknessMõnikord (5–29%)
Limb muscle weaknessPole registreeritud

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Disease of the heart muscleSageli (30–79%)

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Poor swallowingAlati

Abnormality of the ear

TraitKui sageli seda täheldatakse
Hearing impairmentMõnikord (5–29%)

Abnormality of the voice

TraitKui sageli seda täheldatakse
Weak voiceMõnikord (5–29%)

Constitutional symptom

TraitKui sageli seda täheldatakse
Decreased ability to exerciseMõnikord (5–29%)

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 TK2 and how often each is seen. Find out more at hpo.jax.org.

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