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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymiai
Su MEFV susiję požymiai
MEFV innate immunity regulator, pyrin
Žmogaus fenotipo ontologija sieja 158 požymių su MEFV, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of the immune system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Cystic acne | Visada |
| Abnormal circulating interleukin concentration | Labai dažnai (80–99%) |
| Erysipelas | Labai dažnai (80–99%) |
| Meningitis | Labai dažnai (80–99%) |
| Predominantly dermal neutrophilic infiltrate | Labai dažnai (80–99%) |
| Abnormality of tumor necrosis factor secretion | Dažnai (30–79%) |
| Acne | Dažnai (30–79%) |
| Acne inversa | Dažnai (30–79%) |
| Erythema nodosum | Dažnai (30–79%) |
| Immunologic hypersensitivity | Dažnai (30–79%) |
| Increased circulating interleukin 6 concentration | Dažnai (30–79%) |
| Increased inflammatory response | Dažnai (30–79%) |
| Inflammation of fat tissue | Dažnai (30–79%) |
| Muscle inflammation | Dažnai (30–79%) |
| Pimple | Dažnai (30–79%) |
| Sterile abscess | Dažnai (30–79%) |
| Brain inflammation | Kartais (5–29%) |
| Non-infectious meningitis | Kartais (5–29%) |
| Recurrent infections | Kartais (5–29%) |
| Skin rash | Kartais (5–29%) |
Abnormality of the nervous system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Migraine | Labai dažnai (80–99%) |
| Abnormal gait | Dažnai (30–79%) |
| Confusion | Dažnai (30–79%) |
| Difficulty sleeping | Dažnai (30–79%) |
| Epilepsy | Dažnai (30–79%) |
| Headache | Dažnai (30–79%) |
| Irritability | Dažnai (30–79%) |
| Numbness | Dažnai (30–79%) |
| Weakness of one side of body | Dažnai (30–79%) |
| Abnormal pyramidal sign | Kartais (5–29%) |
| Anxiety | Kartais (5–29%) |
| Ataxia | Kartais (5–29%) |
| Behavioral abnormality | Kartais (5–29%) |
| Cranial nerve paralysis | Kartais (5–29%) |
| Depression | Kartais (5–29%) |
| Increased reflexes | Kartais (5–29%) |
| Loss of developmental milestones | Kartais (5–29%) |
| Memory impairment | Kartais (5–29%) |
| Pins and needles feeling | Kartais (5–29%) |
| Rise in pressure inside skull | Kartais (5–29%) |
Abnormality of the digestive system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abdominal pain | Labai dažnai (80–99%) |
| Constipation | Labai dažnai (80–99%) |
| Nausea and vomiting | Labai dažnai (80–99%) |
| Peritonitis | Labai dažnai (80–99%) |
| Diarrhea | Dažnai (30–79%) |
| Intermittent abdominal pain | Dažnai (30–79%) |
| Poor appetite | Dažnai (30–79%) |
| Accumulation of fluid in the abdomen | Kartais (5–29%) |
| Acute liver failure | Kartais (5–29%) |
| Anorexia | Kartais (5–29%) |
| Crohn's disease | Kartais (5–29%) |
| Death of digestive organ tissue due to poor blood supply | Kartais (5–29%) |
| Inflammation of the large intestine | Kartais (5–29%) |
| Intestinal obstruction | Kartais (5–29%) |
| Malabsorption | Kartais (5–29%) |
| Pancreatic inflammation | Kartais (5–29%) |
| Vomiting | Kartais (5–29%) |
| Chronic constipation | Retai (1–4 %) |
| Enlarged liver | Neužfiksuota |
Abnormality of the cardiovascular system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Inflammation of blood vessel | Labai dažnai (80–99%) |
| Redness of skin or mucous membrane | Dažnai (30–79%) |
| Small vessel vasculitis | Dažnai (30–79%) |
| Abnormal heart rate | Kartais (5–29%) |
| Abnormal myocardium morphology | Kartais (5–29%) |
| Aortic regurgitation | Kartais (5–29%) |
| Blood clot in artery of lung | Kartais (5–29%) |
| Disruption of blood oxygen supply to brain | Kartais (5–29%) |
| Endocarditis | Kartais (5–29%) |
| Heart attack | Kartais (5–29%) |
| Increased spleen size | Kartais (5–29%) |
| Inflammation of heart muscle | Kartais (5–29%) |
| Mitral regurgitation | Kartais (5–29%) |
| Stretched and thinned heart muscle | Kartais (5–29%) |
| Swelling or irritation of membrane around heart | Kartais (5–29%) |
| Swollen lymph nodes | Kartais (5–29%) |
Laboratory abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Episodic fever | Visada |
| High urine protein levels | Visada |
| Elevated circulating C-reactive protein concentration | Labai dažnai (80–99%) |
| Fever | Labai dažnai (80–99%) |
| Joint swelling | Labai dažnai (80–99%) |
| High ESR | Dažnai (30–79%) |
| Non-periodic recurrent fever | Dažnai (30–79%) |
| Renal amyloidosis | Dažnai (30–79%) |
| AA amyloidosis | Kartais (5–29%) |
| Abnormal drug response | Kartais (5–29%) |
| Amyloid deposition | Kartais (5–29%) |
| Fluid around lungs | Kartais (5–29%) |
| Elevated circulating serum amyloid A concentration | Neužfiksuota |
Abnormality of blood and blood-forming tissues
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Blood clot in vein | Dažnai (30–79%) |
| Elevated white blood count | Dažnai (30–79%) |
| Gastrointestinal bleeding | Dažnai (30–79%) |
| Hyperfibrinogenemia | Dažnai (30–79%) |
| Increased blood neutrophil counts | Dažnai (30–79%) |
| Low number of red blood cells or hemoglobin | Dažnai (30–79%) |
| Superficial thrombophlebitis | Dažnai (30–79%) |
| Acute myeloid leukemia | Kartais (5–29%) |
| Blood clot in artery | Kartais (5–29%) |
| Blood tumor | Kartais (5–29%) |
| Chronic lymphatic leukemia | Retai (1–4 %) |
Abnormality of the genitourinary system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Inflammation of testicles | Labai dažnai (80–99%) |
| Genital ulcers | Dažnai (30–79%) |
| Renal failure | Dažnai (30–79%) |
| Epididymitis | Kartais (5–29%) |
| Glomerulopathy | Kartais (5–29%) |
| Increased calcium level in kidney | Kartais (5–29%) |
| Kidney damage | Kartais (5–29%) |
| Nephrotic syndrome | Kartais (5–29%) |
| Stage 5 chronic kidney disease | Kartais (5–29%) |
| Glomerulonephritis | Retai (1–4 %) |
Abnormality of the integument
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Erythematous papule | Labai dažnai (80–99%) |
| Erythematous plaque | Labai dažnai (80–99%) |
| Firm lump under the skin | Labai dažnai (80–99%) |
| Papule | Labai dažnai (80–99%) |
| Pyoderma gangrenosum | Labai dažnai (80–99%) |
| Skin nodule | Labai dažnai (80–99%) |
| Abnormal blistering of the skin | Dažnai (30–79%) |
| Positive pathergy test | Dažnai (30–79%) |
| Skin vesicle | Kartais (5–29%) |
Abnormality of the eye
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Extreme sensitivity of the eyes to light | Labai dažnai (80–99%) |
| Nongranulomatous uveitis | Dažnai (30–79%) |
| Panuveitis | Dažnai (30–79%) |
| Blindness | Kartais (5–29%) |
| Clouding of the lens of the eye | Kartais (5–29%) |
| Noninflammatory retina disease | Kartais (5–29%) |
| Optic neuritis | Kartais (5–29%) |
| Retrobulbar optic neuritis | Kartais (5–29%) |
Abnormality of head or neck
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Mouth sore | Labai dažnai (80–99%) |
| Recurrent canker sores | Labai dažnai (80–99%) |
| Abnormality of the face | Dažnai (30–79%) |
| Abnormality of the neck | Dažnai (30–79%) |
| Oral white patch | Dažnai (30–79%) |
| Canker sore | Kartais (5–29%) |
| Dry eye syndrome | Kartais (5–29%) |
Abnormality of the musculoskeletal system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Polyarticular arthritis | Visada |
| Arthritis | Labai dažnai (80–99%) |
| Death of bone due to decreased blood supply | Kartais (5–29%) |
| Degenerative joint disease | Kartais (5–29%) |
| Lumbago | Kartais (5–29%) |
| Oligoarthritis | Kartais (5–29%) |
| Calcium deposits in joints | Retai (1–4 %) |
Constitutional symptom
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Joint pain | Visada |
| Muscle ache | Visada |
| Fatigue | Labai dažnai (80–99%) |
| Pain | Labai dažnai (80–99%) |
| Chest pain | Dažnai (30–79%) |
| Lack of energy and strength | Dažnai (30–79%) |
| Death of body tissue due to lack of blood flow or infection | Kartais (5–29%) |
Abnormality of limbs
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the hand | Dažnai (30–79%) |
| Abnormality of the knee | Dažnai (30–79%) |
| Fluid accumulation in lower limbs | Kartais (5–29%) |
| Knee joint over-flexibility | Kartais (5–29%) |
Abnormality of the respiratory system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Inflammation of tissues lining lungs and chest | Labai dažnai (80–99%) |
| Coughing up blood | Kartais (5–29%) |
| Lung infiltrates | Kartais (5–29%) |
Abnormal tissue mass
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal tissue mass | Kartais (5–29%) |
Abnormality of the breast
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Breast cancer | Retai (1–4 %) |
Abnormality of the ear
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Dizziness | Kartais (5–29%) |
Growth abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Weight loss | Kartais (5–29%) |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su MEFV susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.
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PrisijungtiKlaustiSekvenuokite savo genomą↗
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