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	나타나는 빈도
Difficulty articulating speech	자주 (30–79%)
Peripheral neuropathy	자주 (30–79%)
Pins and needles feeling	자주 (30–79%)
Sensory axonal neuropathy	자주 (30–79%)
Abnormal cerebral white matter morphology	가끔 (5–29%)
Abnormal cerebrospinal fluid morphology	가끔 (5–29%)
Action tremor	가끔 (5–29%)
Ataxia	가끔 (5–29%)
Decreased reflex response	가끔 (5–29%)
Decreased sensation in extremities	가끔 (5–29%)
Degeneration of cerebellum	가끔 (5–29%)
Degeneration of cerebrum	가끔 (5–29%)
Depression	가끔 (5–29%)
Parkinsonism with favorable response to dopaminergic medication	가끔 (5–29%)
Shuffled walk	가끔 (5–29%)
Slow movements	가끔 (5–29%)
Stooped posture	가끔 (5–29%)
Cognitive impairment	드물게 (1–4%)
Abnormal basal ganglia morphology	기록되지 않음
Delayed motor skills	기록되지 않음
Epilepsy	기록되지 않음
Inability to walk	기록되지 않음
Intellectual disability	기록되지 않음
Irritability	기록되지 않음
Loss of ability to walk in early childhood	기록되지 않음

Trait	나타나는 빈도
Cytochrome C oxidase-negative muscle fibers	항상
Decreased lung function due to weak breathing muscles	항상
Generalized decreased muscle tone	항상
Mitochondrial myopathy	항상
Muscle degeneration	항상
Proximal neurogenic muscle weakness	항상
Ragged-red muscle fibers	항상
Muscle tissue disease	자주 (30–79%)
Cogwheel rigidity	가끔 (5–29%)
Muscle fiber degeneration	가끔 (5–29%)
Muscle stiffness	가끔 (5–29%)
Diffuse skeletal muscle wasting	기록되지 않음
EMG: myopathic abnormalities	기록되지 않음
Gowers sign	기록되지 않음
Low muscle tone	기록되지 않음

Trait	나타나는 빈도
Drooping upper eyelid	항상
Progressive external ophthalmoplegia	항상
Paralysis or weakness of muscles within or surrounding outer part of eye	자주 (30–79%)
Color blindness	가끔 (5–29%)
Optic atrophy	가끔 (5–29%)
Optic neuritis	가끔 (5–29%)
Retina issue	가끔 (5–29%)
Visual impairment	가끔 (5–29%)

Trait	나타나는 빈도
Depletion of mitochondrial DNA in muscle tissue	항상
Decreased activity of mitochondrial ATP synthase complex	기록되지 않음
Decreased activity of mitochondrial complex I	기록되지 않음
Decreased activity of mitochondrial complex III	기록되지 않음
Decreased activity of mitochondrial complex IV	기록되지 않음

Trait	나타나는 빈도
Bell's palsy	자주 (30–79%)
Expressionless face	자주 (30–79%)
Weakness of facial musculature	자주 (30–79%)
Facial diplegia	기록되지 않음

Trait	나타나는 빈도
Elevated blood creatine phosphokinase	항상
Higher than normal levels of lactate in blood	자주 (30–79%)
Abnormal urinary amino-acid findings	기록되지 않음
Increased lactate in body	기록되지 않음

Trait	나타나는 빈도
Disease of the heart muscle	자주 (30–79%)

Trait	나타나는 빈도
Poor swallowing	항상

Trait	나타나는 빈도
Hearing impairment	가끔 (5–29%)

Trait	나타나는 빈도
Weak voice	가끔 (5–29%)

Trait	나타나는 빈도
Decreased ability to exercise	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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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