Traits

Traits linked to GUK1

guanylate kinase 1

The Human Phenotype Ontology links 47 traits to GUK1, by body system: features seen in people with one of the gene's rare conditions.

GUK1

Abnormality of the musculoskeletal system

Trait	How often it is seen
Centrally nucleated skeletal muscle fibers	Always
Cytochrome C oxidase-negative muscle fibers	Always
Increased variability in muscle fiber diameter	Always
Kyphoscoliosis	Always
Muscle tissue disease	Always
Proximal neurogenic muscle weakness	Always
Ragged-red muscle fibers	Always
Generalized muscle wasting	Often (30–79%)
Increased endomysial connective tissue	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Autism	Always
Impaired distal vibration sensation	Always
Tremor	Always
Absent reflexes	Often (30–79%)
Depression	Often (30–79%)
Migraine	Often (30–79%)
Anxiety	Sometimes (5–29%)
Difficulty staying or falling asleep	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)

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
Mitochondrial respiratory chain defects	Always
Multiple mitochondrial DNA deletions	Always

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Fatty infiltration of liver	Always
High liver enzymes	Often (30–79%)
Increased plasma triglycerides	Often (30–79%)
Glucose intolerance	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping of both upper eyelids	Always
Drooping upper eyelid	Always
Eye muscle paralysis	Always
Weakness of muscles controlling eye movement	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Always
Poor swallowing	Always
Enlarged liver	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Asthma	Always
Decreased immune function	Always
Recurrent infections	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
High palate	Always
Enlargement of parotid gland	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Telangiectasia of the skin	Often (30–79%)
Disease of the heart muscle	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Small for gestational age	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased total CD4+ T cell proportion	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Limb muscle weakness	Always

Constitutional symptom

Trait	How often it is seen
Chronic fatigue	Always

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 GUK1 and how often each is seen. Find out more at hpo.jax.org.

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