Traits

Traits linked to ATP6AP1

ATPase H+ transporting accessory protein 1

The Human Phenotype Ontology links 42 traits to ATP6AP1, by body system: features seen in people with one of the gene's rare conditions.

ATP6AP1

Laboratory abnormality

Trait	How often it is seen
Abnormal protein N-linked glycosylation	Always
Copper deficiency	Always
Elevated circulating alanine aminotransferase concentration	Always
Elevated circulating aspartate aminotransferase concentration	Always
Elevated serum cholesterol	Always
High liver enzymes	Always
Type II transferrin isoform profile	Always
Abnormal protein O-linked glycosylation	Very often (80–99%)
Fatty infiltration of liver	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Always
Inability to properly digest food due to lack of pancreatic digestive enzymes	Always
Prolonged yellowing of skin in newborn	Always
Slowed or blocked flow of bile from liver	Always
Enlarged liver	Often (30–79%)
Hepatic fibrosis	Often (30–79%)
Scar tissue replaces healthy tissue in the liver	Often (30–79%)
Hepatic bridging fibrosis	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating total IgG concentration	Always
Chronic decreased circulating total IgG concentration	Very often (80–99%)
Decreased circulating antibody level	Very often (80–99%)
Chronic decreased circulating IgA concentration	Often (30–79%)
Decreased circulating IgM concentration	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Fluid-filled sac located in membrane surrounding brain or spinal cord	Always
Global developmental delay	Always
Epilepsy	Often (30–79%)
Intellectual disability, mild	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low platelet count	Always
Normocytic anemia	Always
Decreased blood leukocyte number	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Accessory spleen	Always
Tricuspid regurgitation	Always
Increased spleen size	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Always
Farsightedness	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent bacterial infections	Always
Recurrent infections	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Low muscle tone	Always

Abnormality of head or neck

Trait	How often it is seen
High forehead	Always

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Hanging skin	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	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 ATP6AP1 and how often each is seen. Find out more at hpo.jax.org.

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