Traits

Traits linked to CAPNS1

calpain small subunit 1

The Human Phenotype Ontology links 17 traits to CAPNS1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased blood pressure in blood vessels of lungs	Always
Pulmonary capillary hemangiomatosis	Always
Right ventricular hypertrophy	Often (30–79%)
Atrial flutter	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
Interruption of electrical communication between upper and lower chambers of heart	Sometimes (5–29%)
Right ventricular failure	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Alveolar septal thickening	Always
Apnea	Always
Breathing difficulty	Always
Hemosiderin-laden macrophages in bronchoalveolar fluid	Always
Ground-glass opacification	Often (30–79%)
Respiratory function loss	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating NT-proBNP concentration	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 CAPNS1 and how often each is seen. Find out more at hpo.jax.org.

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