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

Trait	Hvor ofte det ses
Difficulty articulating speech	Ofte (30–79 %)
Peripheral neuropathy	Ofte (30–79 %)
Pins and needles feeling	Ofte (30–79 %)
Sensory axonal neuropathy	Ofte (30–79 %)
Abnormal cerebral white matter morphology	Nogle gange (5–29 %)
Abnormal cerebrospinal fluid morphology	Nogle gange (5–29 %)
Action tremor	Nogle gange (5–29 %)
Ataxia	Nogle gange (5–29 %)
Decreased reflex response	Nogle gange (5–29 %)
Decreased sensation in extremities	Nogle gange (5–29 %)
Degeneration of cerebellum	Nogle gange (5–29 %)
Degeneration of cerebrum	Nogle gange (5–29 %)
Depression	Nogle gange (5–29 %)
Parkinsonism with favorable response to dopaminergic medication	Nogle gange (5–29 %)
Shuffled walk	Nogle gange (5–29 %)
Slow movements	Nogle gange (5–29 %)
Stooped posture	Nogle gange (5–29 %)
Cognitive impairment	Sjældent (1–4%)
Abnormal basal ganglia morphology	Ikke registreret
Delayed motor skills	Ikke registreret
Epilepsy	Ikke registreret
Inability to walk	Ikke registreret
Intellectual disability	Ikke registreret
Irritability	Ikke registreret
Loss of ability to walk in early childhood	Ikke registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Cytochrome C oxidase-negative muscle fibers	Altid
Decreased lung function due to weak breathing muscles	Altid
Generalized decreased muscle tone	Altid
Mitochondrial myopathy	Altid
Muscle degeneration	Altid
Proximal neurogenic muscle weakness	Altid
Ragged-red muscle fibers	Altid
Muscle tissue disease	Ofte (30–79 %)
Cogwheel rigidity	Nogle gange (5–29 %)
Muscle fiber degeneration	Nogle gange (5–29 %)
Muscle stiffness	Nogle gange (5–29 %)
Diffuse skeletal muscle wasting	Ikke registreret
EMG: myopathic abnormalities	Ikke registreret
Gowers sign	Ikke registreret
Low muscle tone	Ikke registreret

Abnormality of the eye

Trait	Hvor ofte det ses
Drooping upper eyelid	Altid
Progressive external ophthalmoplegia	Altid
Paralysis or weakness of muscles within or surrounding outer part of eye	Ofte (30–79 %)
Color blindness	Nogle gange (5–29 %)
Optic atrophy	Nogle gange (5–29 %)
Optic neuritis	Nogle gange (5–29 %)
Retina issue	Nogle gange (5–29 %)
Visual impairment	Nogle gange (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte det ses
Depletion of mitochondrial DNA in muscle tissue	Altid
Decreased activity of mitochondrial ATP synthase complex	Ikke registreret
Decreased activity of mitochondrial complex I	Ikke registreret
Decreased activity of mitochondrial complex III	Ikke registreret
Decreased activity of mitochondrial complex IV	Ikke registreret

Abnormality of head or neck

Trait	Hvor ofte det ses
Bell's palsy	Ofte (30–79 %)
Expressionless face	Ofte (30–79 %)
Weakness of facial musculature	Ofte (30–79 %)
Facial diplegia	Ikke registreret

Laboratory abnormality

Trait	Hvor ofte det ses
Elevated blood creatine phosphokinase	Altid
Higher than normal levels of lactate in blood	Ofte (30–79 %)
Abnormal urinary amino-acid findings	Ikke registreret
Increased lactate in body	Ikke registreret

Abnormality of limbs

Trait	Hvor ofte det ses
Winged shoulder blade	Ofte (30–79 %)
Hand muscle weakness	Nogle gange (5–29 %)
Limb muscle weakness	Ikke registreret

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Disease of the heart muscle	Ofte (30–79 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Poor swallowing	Altid

Abnormality of the ear

Trait	Hvor ofte det ses
Hearing impairment	Nogle gange (5–29 %)

Abnormality of the voice

Trait	Hvor ofte det ses
Weak voice	Nogle gange (5–29 %)

Constitutional symptom

Trait	Hvor ofte det ses
Decreased ability to exercise	Nogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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