Traits

Traits linked to PNPLA2

patatin like domain 2, triacylglycerol lipase

The Human Phenotype Ontology links 66 traits to PNPLA2, by body system: features seen in people with one of the gene's rare conditions.

PNPLA2

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle tissue disease	Always
Fatty replacement of skeletal muscle	Very often (80–99%)
Progressive proximal muscle weakness	Very often (80–99%)
Skeletal myopathy	Very often (80–99%)
Difficulty running	Often (30–79%)
Generalized decreased muscle tone	Often (30–79%)
Gowers sign	Often (30–79%)
Tired easily	Often (30–79%)
Generalized muscle wasting	Sometimes (5–29%)
Neck muscle weakness	Sometimes (5–29%)
Progressive distal muscle weakness	Sometimes (5–29%)
Rimmed vacuoles	Sometimes (5–29%)
Low muscle tone	Not recorded
Proximal neurogenic muscle weakness	Not recorded

Laboratory abnormality

Trait	How often it is seen
High liver enzymes	Always
Increased muscle lipid content	Always
Abnormal circulating enzyme concentration or activity	Very often (80–99%)
Increased intramyocellular lipid droplets	Very often (80–99%)
Abnormal levels of creatine kinase in blood	Often (30–79%)
Diabetes mellitus	Often (30–79%)
Elevated blood creatine phosphokinase	Often (30–79%)
Elevated lipids in blood	Often (30–79%)
Fatty infiltration of liver	Often (30–79%)
Increased circulating lactate dehydrogenase concentration	Often (30–79%)
Increased plasma triglycerides	Often (30–79%)
Very long chain fatty acid accumulation	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart rate	Often (30–79%)
Angina pectoris	Often (30–79%)
Disease of the heart muscle	Often (30–79%)
Low-output congestive heart failure	Often (30–79%)
Narrowing of coronary artery	Often (30–79%)
Palpitations	Often (30–79%)
Plaque build-up in arteries supplying blood to heart	Often (30–79%)
Cardiac failure	Sometimes (5–29%)
Renal artery atherosclerosis	Sometimes (5–29%)
Increased spleen size	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Motor delay	Often (30–79%)
Muscle twitch	Often (30–79%)
Absent reflexes	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Delayed ability to walk	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Weak shoulder muscles	Very often (80–99%)
Abnormal calf muscles	Often (30–79%)
Abnormality of the shoulder girdle musculature	Often (30–79%)
Pelvic girdle muscle weakness	Often (30–79%)
Foot drop	Sometimes (5–29%)
Hand muscle weakness	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic pancreas inflammation	Often (30–79%)
Enlarged liver	Often (30–79%)
Pancreatic inflammation	Sometimes (5–29%)
Gallbladder inflammation	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Muscle ache	Often (30–79%)
Precordial pain	Often (30–79%)
Decreased ability to exercise	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)
Obesity	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Abnormal cardiomyocyte morphology	Very often (80–99%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Vacuolated lymphocytes	Very often (80–99%)

Abnormality of the ear

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

Abnormality of the endocrine system

Trait	How often it is seen
Pineal cyst	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of the eye	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Inflammatory abnormality of the skin	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Ichthyosis	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	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 PNPLA2 and how often each is seen. Find out more at hpo.jax.org.

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