{"orpha":2552,"name":"Microsporidiosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare parasitic disease characterized by chronic diarrhea leading to severe weight loss caused by microsporidia contamination (most commonly by Encephalitozoon or Enterocytozoon). Contamination can occur through ingesting spores present in water or food or via direct human-to-human contact. Immunodeficient patients (such as individuals with HIV, and patients who have undergone a bone marrow or organ transplant) may be severely affected. These protozoan parasites mainly develop in intestinal cells, but can also be found in adipocytes, epithelial cells and blood cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2552/","orphanet_url":"https://www.orpha.net/en/disease/detail/2552","names":{"fr":{"name":"Microsporidiose","definition":"La microsporidiose est une parasitose due à l'infection par un protozoaire, la microsporidie."},"de":{"name":"Mikrosporidiose","definition":"Eine seltene parasitäre Erkrankung, die durch chronischen Durchfall gekennzeichnet ist, der zu schwerem Gewichtsverlust führt und durch eine Kontamination mit Mikrosporidien (am häufigsten durch <i>Encephalitozoon</i> oder <i>Enterocytozoon</i>) verursacht wird. Die Kontamination kann durch die Aufnahme von Sporen aus Wasser oder Nahrung oder durch direkten Kontakt von Mensch zu Mensch erfolgen. Immunsupprimierte Patienten (wie HIV-Infizierte und Patienten, die sich einer Knochenmark- oder Organtransplantation unterzogen haben) können schwer betroffen sein. Diese protozoischen Parasiten entwickeln sich hauptsächlich in Darmzellen, können aber auch in Adipozyten, Epithelzellen und Blutzellen gefunden werden."},"es":{"name":"Microsporidiosis","definition":"Es una enfermedad parasitaria poco frecuente caracterizada por diarrea crónica que provoca pérdida de peso grave, causada por la contaminación por microsporidios (comúnmente por <i>Encephalitozoon</i> y <i>Enterocytozoon</i>). La contaminación probablemente ocurre tras la ingestión de esporas presentes en el agua o alimentos o por contacto directo entre personas. Los pacientes inmunodeprimidos (personas con VIH o sometidas a trasplantes de médula ósea u otros órganos) son el principal grupo de riesgo. Estos parásitos protozoarios se desarrollan principalmente en las células intestinales, pero también se pueden encontrar en adipocitos, células epiteliales y células sanguíneas."},"it":{"name":"Microsporidiosi"},"nl":{"name":"Microsporidiose","definition":"Een zeldzame parasitaire aandoening, gekenmerkt door chronische diarree die leidt tot ernstig gewichtsverlies, en veroorzaakt door besmetting met Microsporidia (meestal Encephalitozoon of Enterocytozoon). Contaminatie kan gebeuren via inname van sporen die aanwezig zijn in water of voedsel, of via direct contact tussen mensen. Immuundeficiënte patiënten (zoals individuen met HIV, en patiënten die beenmerg- of orgaantransplantatie ondergingen) kunnen ernstig getroffen worden. Deze parasitaire protozoën ontwikkelen hoofdzakelijk in darmcellen, maar kunnen ook aangetroffen worden in adipocyten, epitheelcellen en bloedcellen."},"pt":{"name":"Microsporidiose"},"pl":{"name":"Mikrosporydioza"},"cs":{"name":"Mikrosporidóza"},"uk":{"name":"Мікроспоридіоз","definition":"Microsporidiosis is a parasitosis caused by microsporidia (protozoan parasites)."},"zh":{"name":"微孢子虫病"},"tr":{"name":"Mikrosporidioz"}},"xrefs":[{"source":"ICD-10","code":"B60.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"1F58","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1021483422"},{"source":"MONDO","code":"0005846","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016881","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085407","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3655","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053982","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":163588,"name":"Rare parasitic disease","classifications":[203]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-25","source":"20702053[PMID]_24829239[PMID]_26004651[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032218","label":"Decreased proportion of CD4-positive T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002254","label":"Intermittent diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011277","label":"Abnormality of the urinary system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012387","label":"Bronchitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012384","label":"Rhinitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002778","label":"Abnormal trachea morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008777","label":"Abnormal vocal cord morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030126","label":"Abnormality of the endometrium","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011027","label":"Abnormality of the fallopian tube","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000828","label":"Abnormality of the parathyroid gland","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001743","label":"Abnormality of the spleen","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000849","label":"Adrenocortical abnormality","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001080","label":"Biliary tract abnormality","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030049","label":"Brain abscess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011950","label":"Bronchiolitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030151","label":"Cholangitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100584","label":"Endocarditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000206","label":"Glossitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001096","label":"Keratoconjunctivitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002840","label":"Lymphadenitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000123","label":"Nephritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002586","label":"Peritonitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025439","label":"Pharyngitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000024","label":"Prostatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0500006","label":"Urethritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very rare (<4-1%)","criteria":null}]}}