Traits

Traits linked to CAV1

caveolin 1

The Human Phenotype Ontology links 95 traits to CAV1, by body system: features seen in people with one of the gene's rare conditions.

CAV1

Abnormality of the integument

Trait	How often it is seen
Abnormal skin pigmentation	Very often (80–99%)
Abnormality of the skin	Very often (80–99%)
Patchy loss of skin color	Very often (80–99%)
Darkened and thickened skin	Often (30–79%)
Dry skin	Often (30–79%)
Facial wrinkling	Often (30–79%)
Open skin sore	Often (30–79%)
Premature aged appearance	Often (30–79%)
Reduced fat tissue below the skin	Often (30–79%)
Sparse hair	Often (30–79%)
Thin skin	Often (30–79%)
Excessive hairiness	Not recorded
Lack of facial fat below the skin	Not recorded
Loss of fat around neck	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Cutis marmorata	Always
Decrease in blood pressure upon standing up	Often (30–79%)
High blood pressure	Often (30–79%)
Increased blood pressure in blood vessels of lungs	Often (30–79%)
Mucosal telangiectasiae	Often (30–79%)
Pulmonary arteriovenous malformation	Often (30–79%)
Telangiectasia of the skin	Often (30–79%)
Cardiac failure	Sometimes (5–29%)
Hypertensive crisis	Sometimes (5–29%)
Enlarged liver and spleen	Not recorded
increased pulmonary artery pressure	Not recorded
Increased pulmonary vascular resistance	Not recorded
Increased spleen size	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Very often (80–99%)
Diarrhea	Often (30–79%)
Feeding difficulties	Often (30–79%)
Malabsorption	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Poor swallowing	Often (30–79%)
Recurring pancreas inflammation	Often (30–79%)
Vomiting	Often (30–79%)
Abnormal bowel sounds	Sometimes (5–29%)
Enlarged liver	Not recorded

Laboratory abnormality

Trait	How often it is seen
Increased plasma triglycerides	Always
Body fails to respond to insulin	Often (30–79%)
Elevated serum cholesterol	Often (30–79%)
Fluid around lungs	Often (30–79%)
Type 1 diabetes	Often (30–79%)
Diabetes mellitus	Not recorded
Fatty infiltration of liver	Not recorded
Glucose intolerance	Not recorded
Impaired glucose tolerance	Not recorded
Low blood calcium levels	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Triangular face	Always
Decreased salivary flow	Often (30–79%)
Dental cavities	Often (30–79%)
Narrow mouth	Often (30–79%)
Narrow nasal ridge	Often (30–79%)
Short nose	Often (30–79%)
Sparse scalp hair	Often (30–79%)
Sunken cheeks	Often (30–79%)
Wide fontanelles	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Inability to make and keep healthy fat tissue	Very often (80–99%)
Narrow foramen obturatorium	Very often (80–99%)
Arthritis	Often (30–79%)
Breakdown of bone	Often (30–79%)
Flexed joint that cannot be straightened	Often (30–79%)
Muscle weakness	Often (30–79%)
Absent fat below the skin	Not recorded
Generalized lipodystrophy	Not recorded
Loss of fat tissue below the skin in limbs	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Babinski sign	Often (30–79%)
Decreased sensation in extremities	Often (30–79%)
Difficulty performing quick and alternating movements	Often (30–79%)
Clonus	Not recorded
Inability to coordinate movements when walking	Not recorded
Increased reflexes	Not recorded
Lack of coordination of movement	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Oliguria	Very often (80–99%)
Dyspareunia	Often (30–79%)
Increased urine output	Often (30–79%)
Renal failure	Sometimes (5–29%)
Primary amenorrhea	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Often (30–79%)
Clouding of the lens of the eye at birth	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Pigmentary retinopathy	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Very often (80–99%)
Lung infiltrates	Very often (80–99%)
Pulmonary scarring	Often (30–79%)
Spontaneous collapsed lung	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Lower limb muscle weakness	Often (30–79%)
Contractures of the foot joints	Sometimes (5–29%)
Joint contracture of the hand	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Small for gestational age	Often (30–79%)
Short stature	Not recorded

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Ringing in ears	Often (30–79%)

Abnormality of the immune system

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

Constitutional symptom

Trait	How often it is seen
Joint pain	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 CAV1 and how often each is seen. Find out more at hpo.jax.org.

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