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Traits
Traits linked to IL12A
interleukin 12A
The Human Phenotype Ontology links 124 traits to IL12A, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Biliary cirrhosis | Very often (80–99%) |
| Nausea and vomiting | Very often (80–99%) |
| Scar tissue replaces healthy tissue in the liver | Very often (80–99%) |
| Abdominal pain | Often (30–79%) |
| Abnormal intrahepatic bile duct morphology | Often (30–79%) |
| Enlarged liver | Often (30–79%) |
| Hepatic fibrosis | Often (30–79%) |
| Hepatocellular carcinoma | Often (30–79%) |
| Jaundice | Often (30–79%) |
| Liver failure | Often (30–79%) |
| Abdominal bloating | Sometimes (5–29%) |
| Accumulation of fluid in the abdomen | Sometimes (5–29%) |
| Anorexia | Sometimes (5–29%) |
| Celiac disease | Sometimes (5–29%) |
| Enlarged vein in esophagus | Sometimes (5–29%) |
| Fat in feces | Sometimes (5–29%) |
| Liver inflammation | Sometimes (5–29%) |
| Malabsorption | Sometimes (5–29%) |
| Pancreatic inflammation | Sometimes (5–29%) |
| Diarrhea | Rarely (1–4%) |
| Gastrointestinal inflammation | Rarely (1–4%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Migraine | Very often (80–99%) |
| Abnormal gait | Often (30–79%) |
| Confusion | Often (30–79%) |
| Headache | Often (30–79%) |
| Weakness of one side of body | Often (30–79%) |
| Abnormal pyramidal sign | Sometimes (5–29%) |
| Ataxia | Sometimes (5–29%) |
| Behavioral abnormality | Sometimes (5–29%) |
| Cranial nerve paralysis | Sometimes (5–29%) |
| Difficulty sleeping | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Excessive daytime sleepiness | Sometimes (5–29%) |
| Hepatic encephalopathy | Sometimes (5–29%) |
| Increased reflexes | Sometimes (5–29%) |
| Irritability | Sometimes (5–29%) |
| Loss of developmental milestones | Sometimes (5–29%) |
| Memory impairment | Sometimes (5–29%) |
| Pins and needles feeling | Sometimes (5–29%) |
| Rise in pressure inside skull | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Inflammation of blood vessel | Very often (80–99%) |
| Skin writing | Very often (80–99%) |
| Decrease in blood pressure upon standing up | Often (30–79%) |
| Portal hypertension | Often (30–79%) |
| Abnormal myocardium morphology | Sometimes (5–29%) |
| Aortic regurgitation | Sometimes (5–29%) |
| Blood clot in artery of lung | Sometimes (5–29%) |
| Disruption of blood oxygen supply to brain | Sometimes (5–29%) |
| Endocarditis | Sometimes (5–29%) |
| Heart attack | Sometimes (5–29%) |
| Increased spleen size | Sometimes (5–29%) |
| Inflammation of heart muscle | Sometimes (5–29%) |
| Mitral regurgitation | Sometimes (5–29%) |
| Swelling or irritation of membrane around heart | Sometimes (5–29%) |
| Swollen lymph nodes | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Antimitochondrial antibody positivity | Very often (80–99%) |
| Meningitis | Very often (80–99%) |
| Acne | Often (30–79%) |
| Antinuclear antibody positivity | Often (30–79%) |
| Autoimmunity | Often (30–79%) |
| Erythema nodosum | Often (30–79%) |
| Immunologic hypersensitivity | Often (30–79%) |
| Increased inflammatory response | Often (30–79%) |
| Pimple | Often (30–79%) |
| Recurrent fungal infections | Often (30–79%) |
| Unusual fungal nail infection | Often (30–79%) |
| Brain inflammation | Sometimes (5–29%) |
| Muscle inflammation | Sometimes (5–29%) |
| Non-infectious meningitis | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Conjugated hyperbilirubinemia | Very often (80–99%) |
| Fever | Very often (80–99%) |
| Abnormal circulating lipid concentration | Often (30–79%) |
| Elevated alkaline phosphatase | Often (30–79%) |
| Elevated circulating C-reactive protein concentration | Often (30–79%) |
| Elevated gamma-glutamyltransferase level | Often (30–79%) |
| Elevated serum cholesterol | Often (30–79%) |
| High ESR | Often (30–79%) |
| AA amyloidosis | Sometimes (5–29%) |
| Episodic fever | Sometimes (5–29%) |
| Fluid around lungs | Sometimes (5–29%) |
| Low albumin | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Extreme sensitivity of the eyes to light | Very often (80–99%) |
| Nongranulomatous uveitis | Often (30–79%) |
| Panuveitis | Often (30–79%) |
| Blindness | Sometimes (5–29%) |
| Clouding of the lens of the eye | Sometimes (5–29%) |
| Noninflammatory retina disease | Sometimes (5–29%) |
| Optic neuritis | Sometimes (5–29%) |
| Retrobulbar optic neuritis | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Inflammation of testicles | Very often (80–99%) |
| Genital ulcers | Often (30–79%) |
| Epididymitis | Sometimes (5–29%) |
| Glomerulopathy | Sometimes (5–29%) |
| Renal failure | Sometimes (5–29%) |
| Glomerulonephritis | Rarely (1–4%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Firm lump under the skin | Very often (80–99%) |
| Papule | Very often (80–99%) |
| Patchy darkened skin | Very often (80–99%) |
| Abnormal blistering of the skin | Often (30–79%) |
| Itching | Often (30–79%) |
| Positive pathergy test | Often (30–79%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Blood clot in vein | Often (30–79%) |
| Gastrointestinal bleeding | Often (30–79%) |
| Superficial thrombophlebitis | Often (30–79%) |
| Blood clot in artery | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Mouth sore | Very often (80–99%) |
| Recurrent canker sores | Very often (80–99%) |
| Fatty deposits in skin around the eyes | Often (30–79%) |
| Dry eye syndrome | Sometimes (5–29%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | Very often (80–99%) |
| Muscle ache | Very often (80–99%) |
| Joint pain | Often (30–79%) |
| Death of body tissue due to lack of blood flow or infection | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Arthritis | Very often (80–99%) |
| Death of bone due to decreased blood supply | Sometimes (5–29%) |
| Osteoporosis | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Coughing up blood | Sometimes (5–29%) |
| Inflammation of tissues lining lungs and chest | Sometimes (5–29%) |
| Lung infiltrates | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Increased circulating IgM concentration | Often (30–79%) |
| Increased circulating IgA concentration | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Dizziness | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Abnormality of the thyroid gland | Often (30–79%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Weight loss | Sometimes (5–29%) |
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 IL12A and how often each is seen. Find out more at hpo.jax.org.
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