Traits

Traits linked to ALDOA

aldolase, fructose-bisphosphate A

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Increased variability in muscle fiber diameter	Always
Low muscle tone	Always
Muscle fiber splitting	Always
Muscle weakness	Always
EMG: myopathic abnormalities	Often (30–79%)
Exercise-induced rhabdomyolysis	Often (30–79%)
Muscle fiber degeneration	Often (30–79%)
Skeletal myopathy	Often (30–79%)
Viral infection-induced rhabdomyolysis	Often (30–79%)
Decreased muscle mass	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Decreased circulating haptoglobin concentration	Always
Elevated blood creatine phosphokinase	Always
Elevated circulating alanine aminotransferase concentration	Always
Hemoglobin in urine	Always
High blood bilirubin levels	Always
Increased circulating lactate dehydrogenase concentration	Always
Fever	Very often (80–99%)
Reduced circulating aldolase concentration	Very often (80–99%)
Elevated creatine kinase after exercise	Often (30–79%)
Increased circulating potassium concentration	Sometimes (5–29%)
Myoglobinuria	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity	Always
Low number of red blood cells or hemoglobin	Always
Nonspherocytic hemolytic anemia	Always
Hemolytic anemia	Often (30–79%)
Normochromic anemia	Not recorded
Normocytic anemia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Jaundice	Always
Gallbladder inflammation	Not recorded
Gallstones	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Not recorded
Low hairline at back of neck	Not recorded
Short neck	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
Abnormal heart rate	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Sometimes (5–29%)
Short stature	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Acute kidney injury	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Muscle ache	Often (30–79%)

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

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