Traits

Traits linked to CYBC1

cytochrome b-245 chaperone 1

The Human Phenotype Ontology links 45 traits to CYBC1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	How often it is seen
Abnormal connection between trachea and esophagus	Very often (80–99%)
Enlarged liver	Very often (80–99%)
Malabsorption	Very often (80–99%)
Pyloric stenosis	Very often (80–99%)
Crohn's disease	Often (30–79%)
Acute pancreatic inflammation	Sometimes (5–29%)
Anal fissure	Sometimes (5–29%)
Liver abscess	Sometimes (5–29%)
Perianal abscess	Sometimes (5–29%)
Ulcerative colitis	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Abscess	Always
Granuloma	Always
Recurrent pneumonia	Always
Recurrent respiratory infections	Very often (80–99%)
Eczema	Sometimes (5–29%)
Infection in blood stream	Sometimes (5–29%)
Meningitis	Sometimes (5–29%)
Rheumatoid factor positive	Sometimes (5–29%)
Unusual fungal nail infection	Sometimes (5–29%)
Recurrent infections	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
Recurrent inflammation of tonsils	Always
Swollen lymph nodes	Always
Swollen lymph nodes in center of chest	Very often (80–99%)
Enlarged liver and spleen	Sometimes (5–29%)
Inflammation of the lymph nodes	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased blood lymphocyte number	Always
Decreased neutrophil oxidative burst	Always
Hemolytic anemia	Always
Abnormality of neutrophils	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Flat, discolored area of skin	Very often (80–99%)
Hyperpigmented skin patches	Very often (80–99%)
Photosensitive skin	Very often (80–99%)
Open skin sore	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Sinus disease	Very often (80–99%)
Inflamed gums	Sometimes (5–29%)
Mouth sore	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Chronic pulmonary obstruction	Very often (80–99%)
Pulmonary scarring	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fever	Always
Fluid around lungs	Always

Abnormality of the ear

Trait	How often it is seen
Middle ear infection	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Inflammatory abnormality of the eye	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Always

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 CYBC1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test