Traits

Traits linked to CMPK2

cytidine/uridine monophosphate kinase 2

The Human Phenotype Ontology links 41 traits to CMPK2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Cât de frecvent apare
CSF pleocytosis	Întotdeauna
Globus pallidus calcification	Întotdeauna
Thalamic calcification	Întotdeauna
Anxiety	Des (30–79%)
Ataxia	Des (30–79%)
Bilateral basal ganglia lesions	Des (30–79%)
Choreoathetosis	Des (30–79%)
Cognitive impairment	Des (30–79%)
Dementia	Des (30–79%)
Difficulty articulating speech	Des (30–79%)
Epilepsy	Des (30–79%)
Headache	Des (30–79%)
Personality changes	Des (30–79%)
Psychosis	Des (30–79%)
Slow movements	Des (30–79%)
Tremor	Des (30–79%)
Worsening neurological symptoms	Des (30–79%)
Abnormal pyramidal sign	Uneori (5–29%)
Clumsiness	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
Dystonia	Uneori (5–29%)
Involuntary movements	Uneori (5–29%)
Memory impairment	Uneori (5–29%)
Poor concentration	Uneori (5–29%)
Slurred speech	Uneori (5–29%)
Unsteady walk	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Cerebellar calcifications	Întotdeauna
Basal ganglia calcification	Des (30–79%)
Intracerebral periventricular calcifications	Des (30–79%)
Rigidity	Des (30–79%)
Muscle spasm	Uneori (5–29%)
Tired easily	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Difficulty getting a full erection	Uneori (5–29%)
Urinary urgency	Uneori (5–29%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Antinuclear antibody positivity	Des (30–79%)
Central nervous system infection	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Expressionless face	Des (30–79%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
High blood pressure	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Poor swallowing	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Dizziness	Des (30–79%)

Laboratory abnormality

Trait	Cât de frecvent apare
Abnormal circulating metabolite concentration	Neînregistrat

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CMPK2 and how often each is seen. Find out more at hpo.jax.org.

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