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	Kui sageli seda täheldatakse
Muscle eosinophilia	Alati
Generalized muscle weakness	Väga sageli (80–99%)
Flexed joint that cannot be straightened	Sageli (30–79%)
Hamstring contractures	Sageli (30–79%)
Muscular dystrophy	Sageli (30–79%)
Prominent swayback	Sageli (30–79%)
Proximal neurogenic muscle weakness	Sageli (30–79%)
Reduced spine movement	Sageli (30–79%)
Wasting of pec muscles	Sageli (30–79%)
Difficulty walking up stairs	Mõnikord (5–29%)
Abdominal wall muscle weakness	Pole registreeritud
Back pain	Pole registreeritud
Centrally nucleated skeletal muscle fibers	Pole registreeritud
Fatty replacement of skeletal muscle	Pole registreeritud
Increased variability in muscle fiber diameter	Pole registreeritud
Muscle fiber splitting	Pole registreeritud
Muscle tissue disease	Pole registreeritud
Wasting of muscles near the body	Pole registreeritud

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Ankle flexion contracture	Sageli (30–79%)
Congenital finger flexion contractures	Sageli (30–79%)
Elbow flexion contracture	Sageli (30–79%)
Increased size of calf muscles	Sageli (30–79%)
Lower limb muscle weakness	Sageli (30–79%)
Pelvic girdle amyotrophy	Sageli (30–79%)
Scapular muscle atrophy	Sageli (30–79%)
Winged shoulder blade	Sageli (30–79%)
Wrist flexion contracture	Mõnikord (5–29%)

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Abnormal gait	Sageli (30–79%)
Clumsiness	Sageli (30–79%)
Toe walking	Sageli (30–79%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
High blood eosinophil count	Sageli (30–79%)

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Bell's palsy	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Muscle inflammation	Pole registreeritud

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Muscle ache	Pole registreeritud

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Elevated blood creatine phosphokinase	Alati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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