Traits

Traits linked to AP2S1

adaptor related protein complex 2 subunit sigma 1

The Human Phenotype Ontology links 19 traits to AP2S1, 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
Muscle weakness	Sometimes (5–29%)
Bone pain	Not recorded
Calcium deposits in joints	Not recorded
Multiple fatty lumps	Not recorded
Softening of the bones	Not recorded

Laboratory abnormality

Trait	How often it is seen
High blood calcium levels	Not recorded
High blood magnesium levels	Not recorded
Low blood phosphate level	Not recorded
Low urine calcium levels	Not recorded
Parathormone-independent increased renal tubular calcium reabsorption	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney stone	Sometimes (5–29%)
Multiple small medullary renal cysts	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Sore in the lining of gastrointestinal tract	Sometimes (5–29%)
Pancreatic inflammation	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Depression	Sometimes (5–29%)
Headache	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Primary hyperparathyroidism	Not recorded

Constitutional symptom

Trait	How often it is seen
Fatigue	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 AP2S1 and how often each is seen. Find out more at hpo.jax.org.

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