Traits

Traits linked to SAR1B

secretion associated Ras related GTPase 1B

The Human Phenotype Ontology links 28 traits to SAR1B, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Decreased circulating cholesterol level	Always
High liver enzymes	Very often (80–99%)
Abnormality of vitamin metabolism	Often (30–79%)
Increased hepatocellular lipid droplets	Often (30–79%)
Fatty infiltration of liver	Sometimes (5–29%)
Decreased circulating LDL-C concentration	Not recorded
Increased plasma triglycerides	Not recorded
Low albumin	Not recorded
Low blood triglyceride levels	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Always
Fat in feces	Very often (80–99%)
Fat malabsorption	Very often (80–99%)
Abdominal bloating	Often (30–79%)
Vomiting	Often (30–79%)
Accumulation of lipid droplets in small-bowel enterocytes	Not recorded
Malnutrition	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Absent reflexes	Rarely (1–4%)
Impaired proprioception	Rarely (1–4%)
Diminished deep tendon reflex	Not recorded
Impaired vibratory sensation	Not recorded
Intellectual disability	Not recorded

Abnormality of the eye

Trait	How often it is seen
Noninflammatory retina disease	Very often (80–99%)
Visual impairment	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG: myopathic abnormalities	Sometimes (5–29%)
Muscle tissue disease	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Growth delay	Often (30–79%)

Abnormality of blood and blood-forming tissues

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

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 SAR1B and how often each is seen. Find out more at hpo.jax.org.

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