Traits

Traits linked to VMA22

vacuolar ATPase assembly factor VMA22

The Human Phenotype Ontology links 23 traits to VMA22, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Abnormal glycosylation	Always
Decreased serum ceruloplasmin	Always
Elevated alkaline phosphatase of bone origin	Always
Elevated serum cholesterol	Always
High liver enzymes	Always
Increased circulating LDL level	Always
Elevated blood creatine phosphokinase	Sometimes (5–29%)
Copper accumulation in liver	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Liver failure	Often (30–79%)
Cholestatic liver disease	Not recorded
Enlarged liver	Not recorded
Prolonged yellowing of skin in newborn	Not recorded
Scar tissue replaces healthy tissue in the liver	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Long face	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Often (30–79%)
Increased spleen size	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)
Muscle degeneration	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Often (30–79%)
Epilepsy	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Sometimes (5–29%)

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 VMA22 and how often each is seen. Find out more at hpo.jax.org.

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