Traits

Traits linked to DCLRE1C

DNA cross-link repair 1C

The Human Phenotype Ontology links 117 traits to DCLRE1C, 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
BCGitis	Always
Complete or near-complete absence of specific antibody response to tetanus vaccine	Always
Congenital exfoliative erythroderma	Always
Decreased circulating isohemagglutinin concentration	Always
Decreased immune function	Always
Eczema	Always
Eosinophilic dermal infiltration	Always
Infection in blood stream	Always
Meningitis	Always
Pimple	Always
Pneumonia	Always
Recurrent bacterial infections	Always
Recurrent skin infections	Always
Recurrent viral infections	Always
Skin rash	Always
Subcutaneous abscess	Always
Red scaly skin caused by inflammatory skin disease	Very often (80–99%)
Severe combined immunodeficiency	Very often (80–99%)
Cutaneous granuloma	Often (30–79%)
Recurrent opportunistic infections	Often (30–79%)
Skin abscess	Often (30–79%)
Autoimmunity	Sometimes (5–29%)
Recurrent mycobacterial infections	Sometimes (5–29%)
Recurrent fungal infections	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormally low T cell receptor excision circle level	Always
Absent circulating B cells	Always
Absent circulating T cells	Always
Absent natural killer cells	Always
Decreased blood lymphocyte number	Always
Decreased naive CD4+ T cell proportion	Always
Decreased total CD8+ T cell proportion	Always
Elevated white blood count	Always
High blood eosinophil count	Always
Increased CD4:CD8 ratio	Always
Low B cell count	Always
Low blood neutrophil count	Always
Low number of red blood cells or hemoglobin	Always
Oligoclonal T cell expansion	Always
Abnormal lymphocyte morphology	Very often (80–99%)
Autoimmune hemolytic anemia	Often (30–79%)
High lymphocyte count	Often (30–79%)
Autoimmune thrombocytopenia	Sometimes (5–29%)
Cancer of lymphatic system	Sometimes (5–29%)
Low T cell count	Sometimes (5–29%)
Low platelet count	Not recorded

Abnormality of the integument

Trait	How often it is seen
Brittle hair	Always
Erythematous papule	Always
Hair loss	Always
Hyperkeratosis	Always
Parakeratosis	Always
Psoriasiform acanthosis	Always
Scaling skin	Always
Sparse hair	Always
Spongiosis	Always
Dry skin	Often (30–79%)
Itching	Often (30–79%)
Thickened skin	Often (30–79%)
Warts	Often (30–79%)
Blotchy loss of skin color	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Absent thymus	Always
Axillary lymphadenopathy	Always
Generalized swelling of lymph nodes	Always
Increased spleen size	Always
Inguinal lymphadenopathy	Always
Redness of skin or mucous membrane	Always
Swollen lymph nodes in the neck	Always
Swollen lymph nodes	Very often (80–99%)
Enlarged liver and spleen	Often (30–79%)
Absent tonsils	Not recorded
Small lymph nodes	Not recorded
Small thymus	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Absence of scalp hair	Always
Absent eyebrow	Always
Absent eyelashes	Always
Chronic oral thrush	Always
Recurrent upper and lower respiratory tract infections	Often (30–79%)
Sparse or absent eyebrows	Often (30–79%)
Recurrent canker sores	Sometimes (5–29%)
Mouth sore	Not recorded
Recurrent colds	Not recorded

Laboratory abnormality

Trait	How often it is seen
Bacteremia	Always
Elevated circulating C-reactive protein concentration	Always
Episodic fever	Always
Fluid retention	Always
Low albumin	Always
Persistent fever	Always
Fever	Often (30–79%)
Decreased protein levels in blood	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Agammaglobulinemia	Always
Decreased anti-CD3/28-induced T-cell proliferation	Always
Decreased circulating IgA concentration	Always
Decreased circulating IgG concentration	Always
Impaired phytohemagglutinin-induced T lymphocyte transformation	Always
Increased circulating IgE concentration	Always
Panhypogammaglobulinemia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Always
Enlarged liver	Always
Intractable diarrhea	Always
Protracted diarrhea	Always
Recurrent gastroenteritis	Sometimes (5–29%)
Diarrhea	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Thyroid gland inflammation	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)
Hashimoto thyroiditis	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of a long bone	Sometimes (5–29%)
Short toe	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Sometimes (5–29%)
Genital ulcers	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
CSF pleocytosis	Always
Epilepsy	Always

Abnormality of the respiratory system

Trait	How often it is seen
Lung infiltrates	Always
Permanent enlargement of the airways of the lungs	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Desquamation of skin soon after birth	Often (30–79%)

Abnormality of the ear

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Juvenile idiopathic arthritis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 DCLRE1C and how often each is seen. Find out more at hpo.jax.org.

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