Traits

Traits linked to AGK

acylglycerol kinase

The Human Phenotype Ontology links 36 traits to AGK, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Always
Clouding of the lens of the eye at birth	Always
Cross-eyed	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Close sighted	Often (30–79%)
Glaucoma	Often (30–79%)
Abnormal electroretinogram	Sometimes (5–29%)
Corneal dystrophy	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle tissue disease	Very often (80–99%)
Generalized muscle weakness	Often (30–79%)
Osteopenia	Often (30–79%)
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded
Mitochondrial myopathy	Not recorded
Muscle weakness	Not recorded
Tired easily	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex I	Always
Decreased activity of mitochondrial complex III	Always
Decreased activity of mitochondrial complex IV	Always
Depletion of mitochondrial DNA in muscle tissue	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Very often (80–99%)
Heart stops beating	Often (30–79%)
Increased blood pressure in blood vessels of lungs	Often (30–79%)
Sudden cardiac death	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Increased lactate in body	Always
3-Methylglutaconic aciduria	Not recorded
Exercise-induced lactic acidemia	Not recorded
Higher than normal levels of lactate in blood	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Mental deterioration	Often (30–79%)
Motor delay	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Not recorded
Fatigue	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low platelet count	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Early menopause	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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

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