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Kenmerken
Kenmerken gekoppeld aan IL12A
interleukin 12A
De Human Phenotype Ontology koppelt 124 kenmerken aan IL12A, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.
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Abnormality of the digestive system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Biliary cirrhosis | Heel vaak (80–99%) |
| Nausea and vomiting | Heel vaak (80–99%) |
| Scar tissue replaces healthy tissue in the liver | Heel vaak (80–99%) |
| Abdominal pain | Vaak (30–79%) |
| Abnormal intrahepatic bile duct morphology | Vaak (30–79%) |
| Enlarged liver | Vaak (30–79%) |
| Hepatic fibrosis | Vaak (30–79%) |
| Hepatocellular carcinoma | Vaak (30–79%) |
| Jaundice | Vaak (30–79%) |
| Liver failure | Vaak (30–79%) |
| Abdominal bloating | Soms (5–29%) |
| Accumulation of fluid in the abdomen | Soms (5–29%) |
| Anorexia | Soms (5–29%) |
| Celiac disease | Soms (5–29%) |
| Enlarged vein in esophagus | Soms (5–29%) |
| Fat in feces | Soms (5–29%) |
| Liver inflammation | Soms (5–29%) |
| Malabsorption | Soms (5–29%) |
| Pancreatic inflammation | Soms (5–29%) |
| Diarrhea | Zelden (1–4%) |
| Gastrointestinal inflammation | Zelden (1–4%) |
Abnormality of the nervous system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Migraine | Heel vaak (80–99%) |
| Abnormal gait | Vaak (30–79%) |
| Confusion | Vaak (30–79%) |
| Headache | Vaak (30–79%) |
| Weakness of one side of body | Vaak (30–79%) |
| Abnormal pyramidal sign | Soms (5–29%) |
| Ataxia | Soms (5–29%) |
| Behavioral abnormality | Soms (5–29%) |
| Cranial nerve paralysis | Soms (5–29%) |
| Difficulty sleeping | Soms (5–29%) |
| Epilepsy | Soms (5–29%) |
| Excessive daytime sleepiness | Soms (5–29%) |
| Hepatic encephalopathy | Soms (5–29%) |
| Increased reflexes | Soms (5–29%) |
| Irritability | Soms (5–29%) |
| Loss of developmental milestones | Soms (5–29%) |
| Memory impairment | Soms (5–29%) |
| Pins and needles feeling | Soms (5–29%) |
| Rise in pressure inside skull | Soms (5–29%) |
Abnormality of the cardiovascular system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Inflammation of blood vessel | Heel vaak (80–99%) |
| Skin writing | Heel vaak (80–99%) |
| Decrease in blood pressure upon standing up | Vaak (30–79%) |
| Portal hypertension | Vaak (30–79%) |
| Abnormal myocardium morphology | Soms (5–29%) |
| Aortic regurgitation | Soms (5–29%) |
| Blood clot in artery of lung | Soms (5–29%) |
| Disruption of blood oxygen supply to brain | Soms (5–29%) |
| Endocarditis | Soms (5–29%) |
| Heart attack | Soms (5–29%) |
| Increased spleen size | Soms (5–29%) |
| Inflammation of heart muscle | Soms (5–29%) |
| Mitral regurgitation | Soms (5–29%) |
| Swelling or irritation of membrane around heart | Soms (5–29%) |
| Swollen lymph nodes | Soms (5–29%) |
Abnormality of the immune system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Antimitochondrial antibody positivity | Heel vaak (80–99%) |
| Meningitis | Heel vaak (80–99%) |
| Acne | Vaak (30–79%) |
| Antinuclear antibody positivity | Vaak (30–79%) |
| Autoimmunity | Vaak (30–79%) |
| Erythema nodosum | Vaak (30–79%) |
| Immunologic hypersensitivity | Vaak (30–79%) |
| Increased inflammatory response | Vaak (30–79%) |
| Pimple | Vaak (30–79%) |
| Recurrent fungal infections | Vaak (30–79%) |
| Unusual fungal nail infection | Vaak (30–79%) |
| Brain inflammation | Soms (5–29%) |
| Muscle inflammation | Soms (5–29%) |
| Non-infectious meningitis | Soms (5–29%) |
Laboratory abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Conjugated hyperbilirubinemia | Heel vaak (80–99%) |
| Fever | Heel vaak (80–99%) |
| Abnormal circulating lipid concentration | Vaak (30–79%) |
| Elevated alkaline phosphatase | Vaak (30–79%) |
| Elevated circulating C-reactive protein concentration | Vaak (30–79%) |
| Elevated gamma-glutamyltransferase level | Vaak (30–79%) |
| Elevated serum cholesterol | Vaak (30–79%) |
| High ESR | Vaak (30–79%) |
| AA amyloidosis | Soms (5–29%) |
| Episodic fever | Soms (5–29%) |
| Fluid around lungs | Soms (5–29%) |
| Low albumin | Soms (5–29%) |
Abnormality of the eye
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Extreme sensitivity of the eyes to light | Heel vaak (80–99%) |
| Nongranulomatous uveitis | Vaak (30–79%) |
| Panuveitis | Vaak (30–79%) |
| Blindness | Soms (5–29%) |
| Clouding of the lens of the eye | Soms (5–29%) |
| Noninflammatory retina disease | Soms (5–29%) |
| Optic neuritis | Soms (5–29%) |
| Retrobulbar optic neuritis | Soms (5–29%) |
Abnormality of the genitourinary system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Inflammation of testicles | Heel vaak (80–99%) |
| Genital ulcers | Vaak (30–79%) |
| Epididymitis | Soms (5–29%) |
| Glomerulopathy | Soms (5–29%) |
| Renal failure | Soms (5–29%) |
| Glomerulonephritis | Zelden (1–4%) |
Abnormality of the integument
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Firm lump under the skin | Heel vaak (80–99%) |
| Papule | Heel vaak (80–99%) |
| Patchy darkened skin | Heel vaak (80–99%) |
| Abnormal blistering of the skin | Vaak (30–79%) |
| Itching | Vaak (30–79%) |
| Positive pathergy test | Vaak (30–79%) |
Abnormality of blood and blood-forming tissues
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Blood clot in vein | Vaak (30–79%) |
| Gastrointestinal bleeding | Vaak (30–79%) |
| Superficial thrombophlebitis | Vaak (30–79%) |
| Blood clot in artery | Soms (5–29%) |
Abnormality of head or neck
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Mouth sore | Heel vaak (80–99%) |
| Recurrent canker sores | Heel vaak (80–99%) |
| Fatty deposits in skin around the eyes | Vaak (30–79%) |
| Dry eye syndrome | Soms (5–29%) |
Constitutional symptom
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Fatigue | Heel vaak (80–99%) |
| Muscle ache | Heel vaak (80–99%) |
| Joint pain | Vaak (30–79%) |
| Death of body tissue due to lack of blood flow or infection | Soms (5–29%) |
Abnormality of the musculoskeletal system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Arthritis | Heel vaak (80–99%) |
| Death of bone due to decreased blood supply | Soms (5–29%) |
| Osteoporosis | Soms (5–29%) |
Abnormality of the respiratory system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Coughing up blood | Soms (5–29%) |
| Inflammation of tissues lining lungs and chest | Soms (5–29%) |
| Lung infiltrates | Soms (5–29%) |
Abnormal cellular phenotype
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Increased circulating IgM concentration | Vaak (30–79%) |
| Increased circulating IgA concentration | Soms (5–29%) |
Abnormality of the ear
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Dizziness | Soms (5–29%) |
Abnormality of the endocrine system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormality of the thyroid gland | Vaak (30–79%) |
Growth abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Weight loss | Soms (5–29%) |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Waar dit vandaan komt
- De Human Phenotype Ontology, versie 2026-09-01: de aan IL12A gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.
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