Traits

Traits linked to RBCK1

RANBP2-type and C3HC4-type zinc finger containing 1

The Human Phenotype Ontology links 37 traits to RBCK1, 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
Cardiac failure	Often (30–79%)
Disease of the heart muscle	Often (30–79%)
Increased spleen size	Often (30–79%)
Inflammation of the lymph nodes	Often (30–79%)
Stretched and thinned heart muscle	Often (30–79%)
Swollen lymph nodes	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Often (30–79%)
Chronic diarrhea	Often (30–79%)
Enlarged liver	Often (30–79%)
Hepatic fibrosis	Often (30–79%)
Inflammation of the large intestine	Often (30–79%)
Slowed or blocked flow of bile from liver	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Decreased protein levels in blood	Often (30–79%)
Episodic fever	Often (30–79%)
Metabolic acidosis	Often (30–79%)
High liver enzymes	Sometimes (5–29%)
Elevated blood creatine phosphokinase	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent bacterial infections	Often (30–79%)
Red scaly skin caused by inflammatory skin disease	Often (30–79%)
Eczema	Sometimes (5–29%)
Decreased immune function	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle degeneration	Often (30–79%)
Muscle weakness	Often (30–79%)
Scoliosis	Sometimes (5–29%)
Proximal neurogenic muscle weakness	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated white blood count	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Rectal bleeding	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Poor nail formation	Often (30–79%)
Thin skin	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Neonatal omphalitis	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Vesicoureteral reflux	Often (30–79%)

Abnormality of the nervous system

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

Constitutional symptom

Trait	How often it is seen
Muscle ache	Not recorded

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 RBCK1 and how often each is seen. Find out more at hpo.jax.org.

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