Traits

Traits linked to CAPN3

calpain 3

The Human Phenotype Ontology links 35 traits to CAPN3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Muscle eosinophilia	Alltid
Generalized muscle weakness	Svært ofte (80–99 %)
Flexed joint that cannot be straightened	Ofte (30–79 %)
Hamstring contractures	Ofte (30–79 %)
Muscular dystrophy	Ofte (30–79 %)
Prominent swayback	Ofte (30–79 %)
Proximal neurogenic muscle weakness	Ofte (30–79 %)
Reduced spine movement	Ofte (30–79 %)
Wasting of pec muscles	Ofte (30–79 %)
Difficulty walking up stairs	Noen ganger (5–29 %)
Abdominal wall muscle weakness	Ikke registrert
Back pain	Ikke registrert
Centrally nucleated skeletal muscle fibers	Ikke registrert
Fatty replacement of skeletal muscle	Ikke registrert
Increased variability in muscle fiber diameter	Ikke registrert
Muscle fiber splitting	Ikke registrert
Muscle tissue disease	Ikke registrert
Wasting of muscles near the body	Ikke registrert

Abnormality of limbs

Trait	Hvor ofte den forekommer
Ankle flexion contracture	Ofte (30–79 %)
Congenital finger flexion contractures	Ofte (30–79 %)
Elbow flexion contracture	Ofte (30–79 %)
Increased size of calf muscles	Ofte (30–79 %)
Lower limb muscle weakness	Ofte (30–79 %)
Pelvic girdle amyotrophy	Ofte (30–79 %)
Scapular muscle atrophy	Ofte (30–79 %)
Winged shoulder blade	Ofte (30–79 %)
Wrist flexion contracture	Noen ganger (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Abnormal gait	Ofte (30–79 %)
Clumsiness	Ofte (30–79 %)
Toe walking	Ofte (30–79 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
High blood eosinophil count	Ofte (30–79 %)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Bell's palsy	Noen ganger (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Muscle inflammation	Ikke registrert

Constitutional symptom

Trait	Hvor ofte den forekommer
Muscle ache	Ikke registrert

Laboratory abnormality

Trait	Hvor ofte den forekommer
Elevated blood creatine phosphokinase	Alltid

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CAPN3 and how often each is seen. Find out more at hpo.jax.org.

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