Traits

Traits linked to CAVIN1

caveolae associated protein 1

The Human Phenotype Ontology links 44 traits to CAVIN1, 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
Centrally nucleated skeletal muscle fibers	Always
Inability to make and keep healthy fat tissue	Always
Increased variability in muscle fiber diameter	Always
Muscle mounding	Always
Flexed joint that cannot be straightened	Often (30–79%)
Increased skeletal muscle cells	Often (30–79%)
Muscle stiffness	Often (30–79%)
Muscle weakness	Often (30–79%)
Scoliosis	Often (30–79%)
Advanced bone age	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Generalized muscle weakness	Not recorded
Muscular dystrophy	Not recorded
Osteopenia	Not recorded
Osteoporosis	Not recorded
Proximal neurogenic muscle weakness	Not recorded
Reduced spine movement	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Often (30–79%)
Enlarged liver	Often (30–79%)
Prominent belly button	Sometimes (5–29%)
Feeding difficulties	Not recorded
Ileus	Not recorded
Poor swallowing	Not recorded
Pyloric stenosis	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Often (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Sometimes (5–29%)
Aneurysm	Not recorded
Elevated heart rate	Not recorded
Prolonged QT interval	Not recorded
Slow heartbeats	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Fatty infiltration of liver	Often (30–79%)
Hyperinsulinemia	Often (30–79%)
Increased plasma triglycerides	Often (30–79%)
Body fails to respond to insulin	Not recorded
High liver enzymes	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent pneumonia	Often (30–79%)
Recurrent infections	Not recorded

Constitutional symptom

Trait	How often it is seen
Muscle ache	Sometimes (5–29%)
Decreased ability to exercise	Not recorded

Growth abnormality

Trait	How often it is seen
Acral overgrowth	Often (30–79%)
Faltering weight	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgA concentration	Not recorded

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness	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 CAVIN1 and how often each is seen. Find out more at hpo.jax.org.

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