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Tunnused
Geeniga MEFV seotud tunnused
MEFV innate immunity regulator, pyrin
Inimese fenotüübi ontoloogia seostab geeniga MEFV 158 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Cystic acne | Alati |
| Abnormal circulating interleukin concentration | Väga sageli (80–99%) |
| Erysipelas | Väga sageli (80–99%) |
| Meningitis | Väga sageli (80–99%) |
| Predominantly dermal neutrophilic infiltrate | Väga sageli (80–99%) |
| Abnormality of tumor necrosis factor secretion | Sageli (30–79%) |
| Acne | Sageli (30–79%) |
| Acne inversa | Sageli (30–79%) |
| Erythema nodosum | Sageli (30–79%) |
| Immunologic hypersensitivity | Sageli (30–79%) |
| Increased circulating interleukin 6 concentration | Sageli (30–79%) |
| Increased inflammatory response | Sageli (30–79%) |
| Inflammation of fat tissue | Sageli (30–79%) |
| Muscle inflammation | Sageli (30–79%) |
| Pimple | Sageli (30–79%) |
| Sterile abscess | Sageli (30–79%) |
| Brain inflammation | Mõnikord (5–29%) |
| Non-infectious meningitis | Mõnikord (5–29%) |
| Recurrent infections | Mõnikord (5–29%) |
| Skin rash | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Migraine | Väga sageli (80–99%) |
| Abnormal gait | Sageli (30–79%) |
| Confusion | Sageli (30–79%) |
| Difficulty sleeping | Sageli (30–79%) |
| Epilepsy | Sageli (30–79%) |
| Headache | Sageli (30–79%) |
| Irritability | Sageli (30–79%) |
| Numbness | Sageli (30–79%) |
| Weakness of one side of body | Sageli (30–79%) |
| Abnormal pyramidal sign | Mõnikord (5–29%) |
| Anxiety | Mõnikord (5–29%) |
| Ataxia | Mõnikord (5–29%) |
| Behavioral abnormality | Mõnikord (5–29%) |
| Cranial nerve paralysis | Mõnikord (5–29%) |
| Depression | Mõnikord (5–29%) |
| Increased reflexes | Mõnikord (5–29%) |
| Loss of developmental milestones | Mõnikord (5–29%) |
| Memory impairment | Mõnikord (5–29%) |
| Pins and needles feeling | Mõnikord (5–29%) |
| Rise in pressure inside skull | Mõnikord (5–29%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abdominal pain | Väga sageli (80–99%) |
| Constipation | Väga sageli (80–99%) |
| Nausea and vomiting | Väga sageli (80–99%) |
| Peritonitis | Väga sageli (80–99%) |
| Diarrhea | Sageli (30–79%) |
| Intermittent abdominal pain | Sageli (30–79%) |
| Poor appetite | Sageli (30–79%) |
| Accumulation of fluid in the abdomen | Mõnikord (5–29%) |
| Acute liver failure | Mõnikord (5–29%) |
| Anorexia | Mõnikord (5–29%) |
| Crohn's disease | Mõnikord (5–29%) |
| Death of digestive organ tissue due to poor blood supply | Mõnikord (5–29%) |
| Inflammation of the large intestine | Mõnikord (5–29%) |
| Intestinal obstruction | Mõnikord (5–29%) |
| Malabsorption | Mõnikord (5–29%) |
| Pancreatic inflammation | Mõnikord (5–29%) |
| Vomiting | Mõnikord (5–29%) |
| Chronic constipation | Harva (1–4%) |
| Enlarged liver | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Inflammation of blood vessel | Väga sageli (80–99%) |
| Redness of skin or mucous membrane | Sageli (30–79%) |
| Small vessel vasculitis | Sageli (30–79%) |
| Abnormal heart rate | Mõnikord (5–29%) |
| Abnormal myocardium morphology | Mõnikord (5–29%) |
| Aortic regurgitation | Mõnikord (5–29%) |
| Blood clot in artery of lung | Mõnikord (5–29%) |
| Disruption of blood oxygen supply to brain | Mõnikord (5–29%) |
| Endocarditis | Mõnikord (5–29%) |
| Heart attack | Mõnikord (5–29%) |
| Increased spleen size | Mõnikord (5–29%) |
| Inflammation of heart muscle | Mõnikord (5–29%) |
| Mitral regurgitation | Mõnikord (5–29%) |
| Stretched and thinned heart muscle | Mõnikord (5–29%) |
| Swelling or irritation of membrane around heart | Mõnikord (5–29%) |
| Swollen lymph nodes | Mõnikord (5–29%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Episodic fever | Alati |
| High urine protein levels | Alati |
| Elevated circulating C-reactive protein concentration | Väga sageli (80–99%) |
| Fever | Väga sageli (80–99%) |
| Joint swelling | Väga sageli (80–99%) |
| High ESR | Sageli (30–79%) |
| Non-periodic recurrent fever | Sageli (30–79%) |
| Renal amyloidosis | Sageli (30–79%) |
| AA amyloidosis | Mõnikord (5–29%) |
| Abnormal drug response | Mõnikord (5–29%) |
| Amyloid deposition | Mõnikord (5–29%) |
| Fluid around lungs | Mõnikord (5–29%) |
| Elevated circulating serum amyloid A concentration | Pole registreeritud |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Blood clot in vein | Sageli (30–79%) |
| Elevated white blood count | Sageli (30–79%) |
| Gastrointestinal bleeding | Sageli (30–79%) |
| Hyperfibrinogenemia | Sageli (30–79%) |
| Increased blood neutrophil counts | Sageli (30–79%) |
| Low number of red blood cells or hemoglobin | Sageli (30–79%) |
| Superficial thrombophlebitis | Sageli (30–79%) |
| Acute myeloid leukemia | Mõnikord (5–29%) |
| Blood clot in artery | Mõnikord (5–29%) |
| Blood tumor | Mõnikord (5–29%) |
| Chronic lymphatic leukemia | Harva (1–4%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Inflammation of testicles | Väga sageli (80–99%) |
| Genital ulcers | Sageli (30–79%) |
| Renal failure | Sageli (30–79%) |
| Epididymitis | Mõnikord (5–29%) |
| Glomerulopathy | Mõnikord (5–29%) |
| Increased calcium level in kidney | Mõnikord (5–29%) |
| Kidney damage | Mõnikord (5–29%) |
| Nephrotic syndrome | Mõnikord (5–29%) |
| Stage 5 chronic kidney disease | Mõnikord (5–29%) |
| Glomerulonephritis | Harva (1–4%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Erythematous papule | Väga sageli (80–99%) |
| Erythematous plaque | Väga sageli (80–99%) |
| Firm lump under the skin | Väga sageli (80–99%) |
| Papule | Väga sageli (80–99%) |
| Pyoderma gangrenosum | Väga sageli (80–99%) |
| Skin nodule | Väga sageli (80–99%) |
| Abnormal blistering of the skin | Sageli (30–79%) |
| Positive pathergy test | Sageli (30–79%) |
| Skin vesicle | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Extreme sensitivity of the eyes to light | Väga sageli (80–99%) |
| Nongranulomatous uveitis | Sageli (30–79%) |
| Panuveitis | Sageli (30–79%) |
| Blindness | Mõnikord (5–29%) |
| Clouding of the lens of the eye | Mõnikord (5–29%) |
| Noninflammatory retina disease | Mõnikord (5–29%) |
| Optic neuritis | Mõnikord (5–29%) |
| Retrobulbar optic neuritis | Mõnikord (5–29%) |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Mouth sore | Väga sageli (80–99%) |
| Recurrent canker sores | Väga sageli (80–99%) |
| Abnormality of the face | Sageli (30–79%) |
| Abnormality of the neck | Sageli (30–79%) |
| Oral white patch | Sageli (30–79%) |
| Canker sore | Mõnikord (5–29%) |
| Dry eye syndrome | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Polyarticular arthritis | Alati |
| Arthritis | Väga sageli (80–99%) |
| Death of bone due to decreased blood supply | Mõnikord (5–29%) |
| Degenerative joint disease | Mõnikord (5–29%) |
| Lumbago | Mõnikord (5–29%) |
| Oligoarthritis | Mõnikord (5–29%) |
| Calcium deposits in joints | Harva (1–4%) |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Joint pain | Alati |
| Muscle ache | Alati |
| Fatigue | Väga sageli (80–99%) |
| Pain | Väga sageli (80–99%) |
| Chest pain | Sageli (30–79%) |
| Lack of energy and strength | Sageli (30–79%) |
| Death of body tissue due to lack of blood flow or infection | Mõnikord (5–29%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the hand | Sageli (30–79%) |
| Abnormality of the knee | Sageli (30–79%) |
| Fluid accumulation in lower limbs | Mõnikord (5–29%) |
| Knee joint over-flexibility | Mõnikord (5–29%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Inflammation of tissues lining lungs and chest | Väga sageli (80–99%) |
| Coughing up blood | Mõnikord (5–29%) |
| Lung infiltrates | Mõnikord (5–29%) |
Abnormal tissue mass
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal tissue mass | Mõnikord (5–29%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Breast cancer | Harva (1–4%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Dizziness | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Weight loss | Mõnikord (5–29%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga MEFV seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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