AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Trăsături
Trăsături asociate cu MEFV
MEFV innate immunity regulator, pyrin
Human Phenotype Ontology asociază 158 trăsături cu MEFV, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the immune system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Cystic acne | Întotdeauna |
| Abnormal circulating interleukin concentration | Foarte des (80–99%) |
| Erysipelas | Foarte des (80–99%) |
| Meningitis | Foarte des (80–99%) |
| Predominantly dermal neutrophilic infiltrate | Foarte des (80–99%) |
| Abnormality of tumor necrosis factor secretion | Des (30–79%) |
| Acne | Des (30–79%) |
| Acne inversa | Des (30–79%) |
| Erythema nodosum | Des (30–79%) |
| Immunologic hypersensitivity | Des (30–79%) |
| Increased circulating interleukin 6 concentration | Des (30–79%) |
| Increased inflammatory response | Des (30–79%) |
| Inflammation of fat tissue | Des (30–79%) |
| Muscle inflammation | Des (30–79%) |
| Pimple | Des (30–79%) |
| Sterile abscess | Des (30–79%) |
| Brain inflammation | Uneori (5–29%) |
| Non-infectious meningitis | Uneori (5–29%) |
| Recurrent infections | Uneori (5–29%) |
| Skin rash | Uneori (5–29%) |
Abnormality of the nervous system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Migraine | Foarte des (80–99%) |
| Abnormal gait | Des (30–79%) |
| Confusion | Des (30–79%) |
| Difficulty sleeping | Des (30–79%) |
| Epilepsy | Des (30–79%) |
| Headache | Des (30–79%) |
| Irritability | Des (30–79%) |
| Numbness | Des (30–79%) |
| Weakness of one side of body | Des (30–79%) |
| Abnormal pyramidal sign | Uneori (5–29%) |
| Anxiety | Uneori (5–29%) |
| Ataxia | Uneori (5–29%) |
| Behavioral abnormality | Uneori (5–29%) |
| Cranial nerve paralysis | Uneori (5–29%) |
| Depression | Uneori (5–29%) |
| Increased reflexes | Uneori (5–29%) |
| Loss of developmental milestones | Uneori (5–29%) |
| Memory impairment | Uneori (5–29%) |
| Pins and needles feeling | Uneori (5–29%) |
| Rise in pressure inside skull | Uneori (5–29%) |
Abnormality of the digestive system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abdominal pain | Foarte des (80–99%) |
| Constipation | Foarte des (80–99%) |
| Nausea and vomiting | Foarte des (80–99%) |
| Peritonitis | Foarte des (80–99%) |
| Diarrhea | Des (30–79%) |
| Intermittent abdominal pain | Des (30–79%) |
| Poor appetite | Des (30–79%) |
| Accumulation of fluid in the abdomen | Uneori (5–29%) |
| Acute liver failure | Uneori (5–29%) |
| Anorexia | Uneori (5–29%) |
| Crohn's disease | Uneori (5–29%) |
| Death of digestive organ tissue due to poor blood supply | Uneori (5–29%) |
| Inflammation of the large intestine | Uneori (5–29%) |
| Intestinal obstruction | Uneori (5–29%) |
| Malabsorption | Uneori (5–29%) |
| Pancreatic inflammation | Uneori (5–29%) |
| Vomiting | Uneori (5–29%) |
| Chronic constipation | Rar (1–4%) |
| Enlarged liver | Neînregistrat |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Inflammation of blood vessel | Foarte des (80–99%) |
| Redness of skin or mucous membrane | Des (30–79%) |
| Small vessel vasculitis | Des (30–79%) |
| Abnormal heart rate | Uneori (5–29%) |
| Abnormal myocardium morphology | Uneori (5–29%) |
| Aortic regurgitation | Uneori (5–29%) |
| Blood clot in artery of lung | Uneori (5–29%) |
| Disruption of blood oxygen supply to brain | Uneori (5–29%) |
| Endocarditis | Uneori (5–29%) |
| Heart attack | Uneori (5–29%) |
| Increased spleen size | Uneori (5–29%) |
| Inflammation of heart muscle | Uneori (5–29%) |
| Mitral regurgitation | Uneori (5–29%) |
| Stretched and thinned heart muscle | Uneori (5–29%) |
| Swelling or irritation of membrane around heart | Uneori (5–29%) |
| Swollen lymph nodes | Uneori (5–29%) |
Laboratory abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Episodic fever | Întotdeauna |
| High urine protein levels | Întotdeauna |
| Elevated circulating C-reactive protein concentration | Foarte des (80–99%) |
| Fever | Foarte des (80–99%) |
| Joint swelling | Foarte des (80–99%) |
| High ESR | Des (30–79%) |
| Non-periodic recurrent fever | Des (30–79%) |
| Renal amyloidosis | Des (30–79%) |
| AA amyloidosis | Uneori (5–29%) |
| Abnormal drug response | Uneori (5–29%) |
| Amyloid deposition | Uneori (5–29%) |
| Fluid around lungs | Uneori (5–29%) |
| Elevated circulating serum amyloid A concentration | Neînregistrat |
Abnormality of blood and blood-forming tissues
| Trăsătură | Cât de frecvent apare |
|---|---|
| Blood clot in vein | Des (30–79%) |
| Elevated white blood count | Des (30–79%) |
| Gastrointestinal bleeding | Des (30–79%) |
| Hyperfibrinogenemia | Des (30–79%) |
| Increased blood neutrophil counts | Des (30–79%) |
| Low number of red blood cells or hemoglobin | Des (30–79%) |
| Superficial thrombophlebitis | Des (30–79%) |
| Acute myeloid leukemia | Uneori (5–29%) |
| Blood clot in artery | Uneori (5–29%) |
| Blood tumor | Uneori (5–29%) |
| Chronic lymphatic leukemia | Rar (1–4%) |
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Inflammation of testicles | Foarte des (80–99%) |
| Genital ulcers | Des (30–79%) |
| Renal failure | Des (30–79%) |
| Epididymitis | Uneori (5–29%) |
| Glomerulopathy | Uneori (5–29%) |
| Increased calcium level in kidney | Uneori (5–29%) |
| Kidney damage | Uneori (5–29%) |
| Nephrotic syndrome | Uneori (5–29%) |
| Stage 5 chronic kidney disease | Uneori (5–29%) |
| Glomerulonephritis | Rar (1–4%) |
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Erythematous papule | Foarte des (80–99%) |
| Erythematous plaque | Foarte des (80–99%) |
| Firm lump under the skin | Foarte des (80–99%) |
| Papule | Foarte des (80–99%) |
| Pyoderma gangrenosum | Foarte des (80–99%) |
| Skin nodule | Foarte des (80–99%) |
| Abnormal blistering of the skin | Des (30–79%) |
| Positive pathergy test | Des (30–79%) |
| Skin vesicle | Uneori (5–29%) |
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Extreme sensitivity of the eyes to light | Foarte des (80–99%) |
| Nongranulomatous uveitis | Des (30–79%) |
| Panuveitis | Des (30–79%) |
| Blindness | Uneori (5–29%) |
| Clouding of the lens of the eye | Uneori (5–29%) |
| Noninflammatory retina disease | Uneori (5–29%) |
| Optic neuritis | Uneori (5–29%) |
| Retrobulbar optic neuritis | Uneori (5–29%) |
Abnormality of head or neck
| Trăsătură | Cât de frecvent apare |
|---|---|
| Mouth sore | Foarte des (80–99%) |
| Recurrent canker sores | Foarte des (80–99%) |
| Abnormality of the face | Des (30–79%) |
| Abnormality of the neck | Des (30–79%) |
| Oral white patch | Des (30–79%) |
| Canker sore | Uneori (5–29%) |
| Dry eye syndrome | Uneori (5–29%) |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Polyarticular arthritis | Întotdeauna |
| Arthritis | Foarte des (80–99%) |
| Death of bone due to decreased blood supply | Uneori (5–29%) |
| Degenerative joint disease | Uneori (5–29%) |
| Lumbago | Uneori (5–29%) |
| Oligoarthritis | Uneori (5–29%) |
| Calcium deposits in joints | Rar (1–4%) |
Constitutional symptom
| Trăsătură | Cât de frecvent apare |
|---|---|
| Joint pain | Întotdeauna |
| Muscle ache | Întotdeauna |
| Fatigue | Foarte des (80–99%) |
| Pain | Foarte des (80–99%) |
| Chest pain | Des (30–79%) |
| Lack of energy and strength | Des (30–79%) |
| Death of body tissue due to lack of blood flow or infection | Uneori (5–29%) |
Abnormality of limbs
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the hand | Des (30–79%) |
| Abnormality of the knee | Des (30–79%) |
| Fluid accumulation in lower limbs | Uneori (5–29%) |
| Knee joint over-flexibility | Uneori (5–29%) |
Abnormality of the respiratory system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Inflammation of tissues lining lungs and chest | Foarte des (80–99%) |
| Coughing up blood | Uneori (5–29%) |
| Lung infiltrates | Uneori (5–29%) |
Abnormal tissue mass
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormal tissue mass | Uneori (5–29%) |
Abnormality of the breast
| Trăsătură | Cât de frecvent apare |
|---|---|
| Breast cancer | Rar (1–4%) |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Dizziness | Uneori (5–29%) |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Weight loss | Uneori (5–29%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu MEFV și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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