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	Cât de frecvent apare
Centrally nucleated skeletal muscle fibers	Întotdeauna
Inability to make and keep healthy fat tissue	Întotdeauna
Increased variability in muscle fiber diameter	Întotdeauna
Muscle mounding	Întotdeauna
Flexed joint that cannot be straightened	Des (30–79%)
Increased skeletal muscle cells	Des (30–79%)
Muscle stiffness	Des (30–79%)
Muscle weakness	Des (30–79%)
Scoliosis	Des (30–79%)
Advanced bone age	Uneori (5–29%)
Prominent swayback	Uneori (5–29%)
Generalized muscle weakness	Neînregistrat
Muscular dystrophy	Neînregistrat
Osteopenia	Neînregistrat
Osteoporosis	Neînregistrat
Proximal neurogenic muscle weakness	Neînregistrat
Reduced spine movement	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Constipation	Des (30–79%)
Enlarged liver	Des (30–79%)
Prominent belly button	Uneori (5–29%)
Feeding difficulties	Neînregistrat
Ileus	Neînregistrat
Poor swallowing	Neînregistrat
Pyloric stenosis	Neînregistrat

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Increased spleen size	Des (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Uneori (5–29%)
Aneurysm	Neînregistrat
Elevated heart rate	Neînregistrat
Prolonged QT interval	Neînregistrat
Slow heartbeats	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
Elevated blood creatine phosphokinase	Întotdeauna
Fatty infiltration of liver	Des (30–79%)
Hyperinsulinemia	Des (30–79%)
Increased plasma triglycerides	Des (30–79%)
Body fails to respond to insulin	Neînregistrat
High liver enzymes	Neînregistrat

Abnormality of the immune system

Trait	Cât de frecvent apare
Recurrent pneumonia	Des (30–79%)
Recurrent infections	Neînregistrat

Constitutional symptom

Trait	Cât de frecvent apare
Muscle ache	Uneori (5–29%)
Decreased ability to exercise	Neînregistrat

Growth abnormality

Trait	Cât de frecvent apare
Acral overgrowth	Des (30–79%)
Faltering weight	Neînregistrat

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Decreased circulating IgA concentration	Neînregistrat

Abnormality of the integument

Trait	Cât de frecvent apare
Excessive hairiness	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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