Traits

Traits linked to ABHD5

abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

The Human Phenotype Ontology links 37 traits to ABHD5, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Abnormal levels of creatine kinase in blood	Often (30–79%)
Fatty infiltration of liver	Often (30–79%)
High liver enzymes	Often (30–79%)
Increased CSF protein concentration	Often (30–79%)
Increased intramyocellular lipid droplets	Often (30–79%)
Increased plasma triglycerides	Often (30–79%)
High levels of ketone bodies	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Often (30–79%)
Absent reflexes	Often (30–79%)
Ataxia	Often (30–79%)
Global developmental delay	Often (30–79%)
Central nervous system degeneration	Sometimes (5–29%)
Intellectual disability	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Subcapsular cataract	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Progressive proximal muscle weakness	Very often (80–99%)
EMG: myopathic abnormalities	Often (30–79%)
Muscle tissue disease	Often (30–79%)
Muscle weakness	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Everted eyelid	Often (30–79%)
Outward turned lips	Often (30–79%)
Drooping lower lip	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)
Small earlobe	Often (30–79%)
Small ears	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormal granulocyte morphology	Often (30–79%)
Abnormality of blood and blood-forming tissues	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Often (30–79%)
Micronodular cirrhosis	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Congenital nonbullous ichthyosiform erythroderma	Very often (80–99%)
Hair loss	Often (30–79%)

Growth abnormality

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

Abnormality of limbs

Trait	How often it is seen
Weak shoulder muscles	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Disease of the heart muscle	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 ABHD5 and how often each is seen. Find out more at hpo.jax.org.

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