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	Hvor ofte den forekommer
CSF pleocytosis	Alltid
Globus pallidus calcification	Alltid
Thalamic calcification	Alltid
Anxiety	Ofte (30–79 %)
Ataxia	Ofte (30–79 %)
Bilateral basal ganglia lesions	Ofte (30–79 %)
Choreoathetosis	Ofte (30–79 %)
Cognitive impairment	Ofte (30–79 %)
Dementia	Ofte (30–79 %)
Difficulty articulating speech	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Headache	Ofte (30–79 %)
Personality changes	Ofte (30–79 %)
Psychosis	Ofte (30–79 %)
Slow movements	Ofte (30–79 %)
Tremor	Ofte (30–79 %)
Worsening neurological symptoms	Ofte (30–79 %)
Abnormal pyramidal sign	Noen ganger (5–29 %)
Clumsiness	Noen ganger (5–29 %)
Disorder of involuntary muscle movements	Noen ganger (5–29 %)
Dystonia	Noen ganger (5–29 %)
Involuntary movements	Noen ganger (5–29 %)
Memory impairment	Noen ganger (5–29 %)
Poor concentration	Noen ganger (5–29 %)
Slurred speech	Noen ganger (5–29 %)
Unsteady walk	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Cerebellar calcifications	Alltid
Basal ganglia calcification	Ofte (30–79 %)
Intracerebral periventricular calcifications	Ofte (30–79 %)
Rigidity	Ofte (30–79 %)
Muscle spasm	Noen ganger (5–29 %)
Tired easily	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Difficulty getting a full erection	Noen ganger (5–29 %)
Urinary urgency	Noen ganger (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Antinuclear antibody positivity	Ofte (30–79 %)
Central nervous system infection	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Expressionless face	Ofte (30–79 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
High blood pressure	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Poor swallowing	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Dizziness	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Abnormal circulating metabolite concentration	Ikke registrert

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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