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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

TraitHur ofta den förekommer
Difficulty articulating speechOfta (30–79 %)
Peripheral neuropathyOfta (30–79 %)
Pins and needles feelingOfta (30–79 %)
Sensory axonal neuropathyOfta (30–79 %)
Abnormal cerebral white matter morphologyIbland (5–29 %)
Abnormal cerebrospinal fluid morphologyIbland (5–29 %)
Action tremorIbland (5–29 %)
AtaxiaIbland (5–29 %)
Decreased reflex responseIbland (5–29 %)
Decreased sensation in extremitiesIbland (5–29 %)
Degeneration of cerebellumIbland (5–29 %)
Degeneration of cerebrumIbland (5–29 %)
DepressionIbland (5–29 %)
Parkinsonism with favorable response to dopaminergic medicationIbland (5–29 %)
Shuffled walkIbland (5–29 %)
Slow movementsIbland (5–29 %)
Stooped postureIbland (5–29 %)
Cognitive impairmentSällan (1–4%)
Abnormal basal ganglia morphologyInte registrerat
Delayed motor skillsInte registrerat
EpilepsyInte registrerat
Inability to walkInte registrerat
Intellectual disabilityInte registrerat
IrritabilityInte registrerat
Loss of ability to walk in early childhoodInte registrerat

Abnormality of the musculoskeletal system

TraitHur ofta den förekommer
Cytochrome C oxidase-negative muscle fibersAlltid
Decreased lung function due to weak breathing musclesAlltid
Generalized decreased muscle toneAlltid
Mitochondrial myopathyAlltid
Muscle degenerationAlltid
Proximal neurogenic muscle weaknessAlltid
Ragged-red muscle fibersAlltid
Muscle tissue diseaseOfta (30–79 %)
Cogwheel rigidityIbland (5–29 %)
Muscle fiber degenerationIbland (5–29 %)
Muscle stiffnessIbland (5–29 %)
Diffuse skeletal muscle wastingInte registrerat
EMG: myopathic abnormalitiesInte registrerat
Gowers signInte registrerat
Low muscle toneInte registrerat

Abnormality of the eye

TraitHur ofta den förekommer
Drooping upper eyelidAlltid
Progressive external ophthalmoplegiaAlltid
Paralysis or weakness of muscles within or surrounding outer part of eyeOfta (30–79 %)
Color blindnessIbland (5–29 %)
Optic atrophyIbland (5–29 %)
Optic neuritisIbland (5–29 %)
Retina issueIbland (5–29 %)
Visual impairmentIbland (5–29 %)

Abnormal cellular phenotype

TraitHur ofta den förekommer
Depletion of mitochondrial DNA in muscle tissueAlltid
Decreased activity of mitochondrial ATP synthase complexInte registrerat
Decreased activity of mitochondrial complex IInte registrerat
Decreased activity of mitochondrial complex IIIInte registrerat
Decreased activity of mitochondrial complex IVInte registrerat

Abnormality of head or neck

TraitHur ofta den förekommer
Bell's palsyOfta (30–79 %)
Expressionless faceOfta (30–79 %)
Weakness of facial musculatureOfta (30–79 %)
Facial diplegiaInte registrerat

Laboratory abnormality

TraitHur ofta den förekommer
Elevated blood creatine phosphokinaseAlltid
Higher than normal levels of lactate in bloodOfta (30–79 %)
Abnormal urinary amino-acid findingsInte registrerat
Increased lactate in bodyInte registrerat

Abnormality of limbs

TraitHur ofta den förekommer
Winged shoulder bladeOfta (30–79 %)
Hand muscle weaknessIbland (5–29 %)
Limb muscle weaknessInte registrerat

Abnormality of the cardiovascular system

TraitHur ofta den förekommer
Disease of the heart muscleOfta (30–79 %)

Abnormality of the digestive system

TraitHur ofta den förekommer
Poor swallowingAlltid

Abnormality of the ear

TraitHur ofta den förekommer
Hearing impairmentIbland (5–29 %)

Abnormality of the voice

TraitHur ofta den förekommer
Weak voiceIbland (5–29 %)

Constitutional symptom

TraitHur ofta den förekommer
Decreased ability to exerciseIbland (5–29 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

  • 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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