Traits

Traits linked to RFXANK

regulatory factor X associated ankyrin containing protein

The Human Phenotype Ontology links 52 traits to RFXANK, 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
Infection in blood stream	Always
Recurrent chest infections	Always
Recurrent mucocutaneous candidiasis	Always
Reduced MHC II cell surface expression	Always
Recurrent pneumonia	Very often (80–99%)
Recurrent respiratory infections	Very often (80–99%)
Abnormality of humoral immunity	Often (30–79%)
Recurrent bacterial infections	Often (30–79%)
Recurrent Candida infection	Often (30–79%)
Recurrent fungal infections	Often (30–79%)
Recurrent protozoan infections	Often (30–79%)
Recurrent Staphylococcus aureus infection	Often (30–79%)
Recurrent viral infections	Often (30–79%)
Susceptibility to herpesvirus	Often (30–79%)
Autoimmunity	Sometimes (5–29%)
Cytoplasmic antineutrophil antibody positivity	Sometimes (5–29%)
Skin rash	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased total CD4+ T cell proportion	Always
Abnormal CD4:CD8 ratio	Sometimes (5–29%)
Autoimmune hemolytic anemia	Sometimes (5–29%)
Autoimmune neutropenia	Sometimes (5–29%)
Autoimmune thrombocytopenia	Sometimes (5–29%)
Low blood cell count	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Low T cell count	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Recurrent infection of the gastrointestinal tract	Very often (80–99%)
Chronic diarrhea	Often (30–79%)
Chronic hepatitis due to cryptosporidium infection	Often (30–79%)
Diarrhea	Often (30–79%)
Protracted diarrhea	Often (30–79%)
Sclerosing cholangitis	Often (30–79%)
Cytomegalovirus colitis	Sometimes (5–29%)
Enlarged liver	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased antigen-specific T cell proliferation	Always
Decreased circulating IgG concentration	Always
Impaired T cell function	Very often (80–99%)
Decreased circulating antibody level	Often (30–79%)
Decreased mitogen-induced T-cell proliferation	Sometimes (5–29%)
Panhypogammaglobulinemia	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Nasal inflammation	Often (30–79%)
Recurrent colds	Often (30–79%)
Sinus disease	Often (30–79%)
Abnormal facial shape	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Brain degeneration	Always
Global developmental delay	Sometimes (5–29%)
Difficulty articulating speech	Rarely (1–4%)
Inability to coordinate movements when walking	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Lower limb spasticity	Always

Abnormality of the ear

Trait	How often it is seen
Acute middle ear infection	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Decreased circulating beta-2-microglobulin 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 RFXANK and how often each is seen. Find out more at hpo.jax.org.

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