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Kenmerken
Kenmerken gekoppeld aan MEFV
MEFV innate immunity regulator, pyrin
De Human Phenotype Ontology koppelt 158 kenmerken aan MEFV, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.
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Abnormality of the immune system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Cystic acne | Altijd |
| Abnormal circulating interleukin concentration | Heel vaak (80–99%) |
| Erysipelas | Heel vaak (80–99%) |
| Meningitis | Heel vaak (80–99%) |
| Predominantly dermal neutrophilic infiltrate | Heel vaak (80–99%) |
| Abnormality of tumor necrosis factor secretion | Vaak (30–79%) |
| Acne | Vaak (30–79%) |
| Acne inversa | Vaak (30–79%) |
| Erythema nodosum | Vaak (30–79%) |
| Immunologic hypersensitivity | Vaak (30–79%) |
| Increased circulating interleukin 6 concentration | Vaak (30–79%) |
| Increased inflammatory response | Vaak (30–79%) |
| Inflammation of fat tissue | Vaak (30–79%) |
| Muscle inflammation | Vaak (30–79%) |
| Pimple | Vaak (30–79%) |
| Sterile abscess | Vaak (30–79%) |
| Brain inflammation | Soms (5–29%) |
| Non-infectious meningitis | Soms (5–29%) |
| Recurrent infections | Soms (5–29%) |
| Skin rash | Soms (5–29%) |
Abnormality of the nervous system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Migraine | Heel vaak (80–99%) |
| Abnormal gait | Vaak (30–79%) |
| Confusion | Vaak (30–79%) |
| Difficulty sleeping | Vaak (30–79%) |
| Epilepsy | Vaak (30–79%) |
| Headache | Vaak (30–79%) |
| Irritability | Vaak (30–79%) |
| Numbness | Vaak (30–79%) |
| Weakness of one side of body | Vaak (30–79%) |
| Abnormal pyramidal sign | Soms (5–29%) |
| Anxiety | Soms (5–29%) |
| Ataxia | Soms (5–29%) |
| Behavioral abnormality | Soms (5–29%) |
| Cranial nerve paralysis | Soms (5–29%) |
| Depression | Soms (5–29%) |
| Increased reflexes | 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 digestive system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abdominal pain | Heel vaak (80–99%) |
| Constipation | Heel vaak (80–99%) |
| Nausea and vomiting | Heel vaak (80–99%) |
| Peritonitis | Heel vaak (80–99%) |
| Diarrhea | Vaak (30–79%) |
| Intermittent abdominal pain | Vaak (30–79%) |
| Poor appetite | Vaak (30–79%) |
| Accumulation of fluid in the abdomen | Soms (5–29%) |
| Acute liver failure | Soms (5–29%) |
| Anorexia | Soms (5–29%) |
| Crohn's disease | Soms (5–29%) |
| Death of digestive organ tissue due to poor blood supply | Soms (5–29%) |
| Inflammation of the large intestine | Soms (5–29%) |
| Intestinal obstruction | Soms (5–29%) |
| Malabsorption | Soms (5–29%) |
| Pancreatic inflammation | Soms (5–29%) |
| Vomiting | Soms (5–29%) |
| Chronic constipation | Zelden (1–4%) |
| Enlarged liver | Niet vastgelegd |
Abnormality of the cardiovascular system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Inflammation of blood vessel | Heel vaak (80–99%) |
| Redness of skin or mucous membrane | Vaak (30–79%) |
| Small vessel vasculitis | Vaak (30–79%) |
| Abnormal heart rate | Soms (5–29%) |
| 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%) |
| Stretched and thinned heart muscle | Soms (5–29%) |
| Swelling or irritation of membrane around heart | Soms (5–29%) |
| Swollen lymph nodes | Soms (5–29%) |
Laboratory abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Episodic fever | Altijd |
| High urine protein levels | Altijd |
| Elevated circulating C-reactive protein concentration | Heel vaak (80–99%) |
| Fever | Heel vaak (80–99%) |
| Joint swelling | Heel vaak (80–99%) |
| High ESR | Vaak (30–79%) |
| Non-periodic recurrent fever | Vaak (30–79%) |
| Renal amyloidosis | Vaak (30–79%) |
| AA amyloidosis | Soms (5–29%) |
| Abnormal drug response | Soms (5–29%) |
| Amyloid deposition | Soms (5–29%) |
| Fluid around lungs | Soms (5–29%) |
| Elevated circulating serum amyloid A concentration | Niet vastgelegd |
Abnormality of blood and blood-forming tissues
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Blood clot in vein | Vaak (30–79%) |
| Elevated white blood count | Vaak (30–79%) |
| Gastrointestinal bleeding | Vaak (30–79%) |
| Hyperfibrinogenemia | Vaak (30–79%) |
| Increased blood neutrophil counts | Vaak (30–79%) |
| Low number of red blood cells or hemoglobin | Vaak (30–79%) |
| Superficial thrombophlebitis | Vaak (30–79%) |
| Acute myeloid leukemia | Soms (5–29%) |
| Blood clot in artery | Soms (5–29%) |
| Blood tumor | Soms (5–29%) |
| Chronic lymphatic leukemia | Zelden (1–4%) |
Abnormality of the genitourinary system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Inflammation of testicles | Heel vaak (80–99%) |
| Genital ulcers | Vaak (30–79%) |
| Renal failure | Vaak (30–79%) |
| Epididymitis | Soms (5–29%) |
| Glomerulopathy | Soms (5–29%) |
| Increased calcium level in kidney | Soms (5–29%) |
| Kidney damage | Soms (5–29%) |
| Nephrotic syndrome | Soms (5–29%) |
| Stage 5 chronic kidney disease | Soms (5–29%) |
| Glomerulonephritis | Zelden (1–4%) |
Abnormality of the integument
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Erythematous papule | Heel vaak (80–99%) |
| Erythematous plaque | Heel vaak (80–99%) |
| Firm lump under the skin | Heel vaak (80–99%) |
| Papule | Heel vaak (80–99%) |
| Pyoderma gangrenosum | Heel vaak (80–99%) |
| Skin nodule | Heel vaak (80–99%) |
| Abnormal blistering of the skin | Vaak (30–79%) |
| Positive pathergy test | Vaak (30–79%) |
| Skin vesicle | 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 head or neck
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Mouth sore | Heel vaak (80–99%) |
| Recurrent canker sores | Heel vaak (80–99%) |
| Abnormality of the face | Vaak (30–79%) |
| Abnormality of the neck | Vaak (30–79%) |
| Oral white patch | Vaak (30–79%) |
| Canker sore | Soms (5–29%) |
| Dry eye syndrome | Soms (5–29%) |
Abnormality of the musculoskeletal system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Polyarticular arthritis | Altijd |
| Arthritis | Heel vaak (80–99%) |
| Death of bone due to decreased blood supply | Soms (5–29%) |
| Degenerative joint disease | Soms (5–29%) |
| Lumbago | Soms (5–29%) |
| Oligoarthritis | Soms (5–29%) |
| Calcium deposits in joints | Zelden (1–4%) |
Constitutional symptom
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Joint pain | Altijd |
| Muscle ache | Altijd |
| Fatigue | Heel vaak (80–99%) |
| Pain | Heel vaak (80–99%) |
| Chest pain | Vaak (30–79%) |
| Lack of energy and strength | Vaak (30–79%) |
| Death of body tissue due to lack of blood flow or infection | Soms (5–29%) |
Abnormality of limbs
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormality of the hand | Vaak (30–79%) |
| Abnormality of the knee | Vaak (30–79%) |
| Fluid accumulation in lower limbs | Soms (5–29%) |
| Knee joint over-flexibility | Soms (5–29%) |
Abnormality of the respiratory system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Inflammation of tissues lining lungs and chest | Heel vaak (80–99%) |
| Coughing up blood | Soms (5–29%) |
| Lung infiltrates | Soms (5–29%) |
Abnormal tissue mass
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormal tissue mass | Soms (5–29%) |
Abnormality of the breast
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Breast cancer | Zelden (1–4%) |
Abnormality of the ear
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Dizziness | Soms (5–29%) |
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 MEFV gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.
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