Traits

Traits linked to CARMIL2

capping protein regulator and myosin 1 linker 2

The Human Phenotype Ontology links 38 traits to CARMIL2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the immune system

Trait	How often it is seen
Recurrent cutaneous abscess formation	Always
Asthma	Often (30–79%)
Eczema	Often (30–79%)
Recurrent mucocutaneous candidiasis	Often (30–79%)
Recurrent pneumonia	Often (30–79%)
Recurrent respiratory infections	Often (30–79%)
Unusual molluscum contagiosum	Often (30–79%)
Chronic bronchitis	Sometimes (5–29%)
Seborrheic dermatitis	Sometimes (5–29%)
Skin abscess	Sometimes (5–29%)
Unusual fungal nail infection	Sometimes (5–29%)
Decreased specific antibody response to vaccination	Not recorded

Abnormality of the integument

Trait	How often it is seen
Psoriasiform lesion	Always
Photosensitive skin	Often (30–79%)
Scaling skin	Often (30–79%)
Warts	Often (30–79%)
Ichthyosis	Sometimes (5–29%)
Sunken or indented skin due to damage	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Inflammation of the esophagus	Often (30–79%)
Poor swallowing	Often (30–79%)
Chronic diarrhea	Sometimes (5–29%)
Colitis	Sometimes (5–29%)
Helicobacter pylori infection	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Blockage of nose	Often (30–79%)
Recurrent canker sores	Often (30–79%)
Recurrent colds	Often (30–79%)
Hay fever	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Sometimes (5–29%)
Decreased T cell activation	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Chronic pulmonary obstruction	Often (30–79%)
Permanent enlargement of the airways of the lungs	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Short stature	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Cold urticaria	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Chronic infections of the middle ear	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Dull burning sensation with urination	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle spasm	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Fatigue	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 CARMIL2 and how often each is seen. Find out more at hpo.jax.org.

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