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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

TraitHvor ofte det ses
Centrally nucleated skeletal muscle fibersAltid
Inability to make and keep healthy fat tissueAltid
Increased variability in muscle fiber diameterAltid
Muscle moundingAltid
Flexed joint that cannot be straightenedOfte (30–79 %)
Increased skeletal muscle cellsOfte (30–79 %)
Muscle stiffnessOfte (30–79 %)
Muscle weaknessOfte (30–79 %)
ScoliosisOfte (30–79 %)
Advanced bone ageNogle gange (5–29 %)
Prominent swaybackNogle gange (5–29 %)
Generalized muscle weaknessIkke registreret
Muscular dystrophyIkke registreret
OsteopeniaIkke registreret
OsteoporosisIkke registreret
Proximal neurogenic muscle weaknessIkke registreret
Reduced spine movementIkke registreret

Abnormality of the digestive system

TraitHvor ofte det ses
ConstipationOfte (30–79 %)
Enlarged liverOfte (30–79 %)
Prominent belly buttonNogle gange (5–29 %)
Feeding difficultiesIkke registreret
IleusIkke registreret
Poor swallowingIkke registreret
Pyloric stenosisIkke registreret

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Increased spleen sizeOfte (30–79 %)
Quivering upper heart chambers resulting in irregular heartbeatNogle gange (5–29 %)
AneurysmIkke registreret
Elevated heart rateIkke registreret
Prolonged QT intervalIkke registreret
Slow heartbeatsIkke registreret

Laboratory abnormality

TraitHvor ofte det ses
Elevated blood creatine phosphokinaseAltid
Fatty infiltration of liverOfte (30–79 %)
HyperinsulinemiaOfte (30–79 %)
Increased plasma triglyceridesOfte (30–79 %)
Body fails to respond to insulinIkke registreret
High liver enzymesIkke registreret

Abnormality of the immune system

TraitHvor ofte det ses
Recurrent pneumoniaOfte (30–79 %)
Recurrent infectionsIkke registreret

Constitutional symptom

TraitHvor ofte det ses
Muscle acheNogle gange (5–29 %)
Decreased ability to exerciseIkke registreret

Growth abnormality

TraitHvor ofte det ses
Acral overgrowthOfte (30–79 %)
Faltering weightIkke registreret

Abnormal cellular phenotype

TraitHvor ofte det ses
Decreased circulating IgA concentrationIkke registreret

Abnormality of the integument

TraitHvor ofte det ses
Excessive hairinessNogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • 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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