Traits

Traits linked to AGPAT2

1-acylglycerol-3-phosphate O-acyltransferase 2

The Human Phenotype Ontology links 35 traits to AGPAT2, 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
Advanced bone age	Not recorded
Cystic angiomatosis of bone	Not recorded
Generalized muscular appearance from birth	Not recorded
Inability to make and keep healthy fat tissue	Not recorded
Reduced intraabdominal adipose tissue	Not recorded
Reduced intrathoracic adipose tissue	Not recorded

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Often (30–79%)
Fatty infiltration of liver	Not recorded
High liver enzymes	Not recorded
Hyperinsulinemia	Not recorded
Increased plasma triglycerides	Not recorded
Insulin-resistant diabetes mellitus at puberty	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Acute pancreatic inflammation	Not recorded
Prominent belly button	Not recorded
Scar tissue replaces healthy tissue in the liver	Not recorded
Umbilical hernia	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Decreased fertility in females	Not recorded
Enlarged clitoris	Not recorded
Enlargement of the labia	Not recorded
Kidney stone	Not recorded
Polycystic ovaries	Not recorded

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Very often (80–99%)
Excessive hairiness	Not recorded
Reduced fat tissue below the skin	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big lower jaw	Not recorded
Triangular face	Not recorded

Abnormality of limbs

Trait	How often it is seen
Large hands	Not recorded
Long foot	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Disease of the heart muscle	Sometimes (5–29%)
Increased spleen size	Not recorded

Abnormality of the ear

Trait	How often it is seen
Large ears	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased serum leptin	Always

Abnormality of the nervous system

Trait	How often it is seen
Increased appetite	Not recorded

Growth abnormality

Trait	How often it is seen
Tall stature	Not recorded

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 AGPAT2 and how often each is seen. Find out more at hpo.jax.org.

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