{"Name":"Malakoplakia","DiseaseID__c":"GARD:0006960","id":6960,"encodedName":"malakoplakia","IsDeleted":false,"Disease_Name_Full__c":"Malakoplakia","Xref_IDs__c":"264545007; 50707001; 716766007; C0024525; C84833; D008287; MEDGEN:44257; MONDO:0018913; ORPHA:556","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018913","Disease_Description__c":"Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.","GARD_Name__c":"Malakoplakia","GARD_Synonym__c":"malacoplakia","Curated_Disease_Description_Source__c":"GARD:0006960","Curated_Disease_Description__c":"Malakoplakia is a rare chronic inflammatory disease. It most commonly involves the urogenital system (reproductive organs and urinary system), but may also be found in other regions of the body, including the pelvis, bones, lungs, thyroid gland, gastrointestinal (digestive) tract, skin, and kidneys. Symptoms of Malakoplakia differ depending on the involved area. For example, when the skin is affected the Malakoplakia may appear rash-like with small areas of itchy, reddened skin that may be painful and/or fluid filled. The cause of Malakoplakia is not well understood. It is thought to be related to an issue with the function of one's macrophages, which are one type of cell within the immune system that respond to foreign invaders (bacteria). E.coli is the most common type of bacteria that leads to Malakoplakia. Individuals with a compromised immune system have an elevated risk to develop Malakoplakia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:556","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018913","ORPHANET_ID__c":"ORPHA:556","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malacoplaquia","Spanish_Description_Source__c":"ORPHA:556","Spanish_Description__c":"La malacoplasia es una enfermedad inflamatoria granulomatosa multisistémica crónica caracterizada por la presencia de una o múltiples placas blandas en varios órganos del cuerpo.","Spanish_Disease_Name__c":"malacoplaquia","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97935","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Malakoplakia is a rare chronic inflammatory disease. It most commonly involves the urogenital system (reproductive organs and urinary system), but may also be found in other regions of the body, including the pelvis, bones, lungs, thyroid gland, gastrointestinal (digestive) tract, skin, and kidneys. Symptoms of Malakoplakia differ depending on the involved area. For example, when the skin is affected the Malakoplakia may appear rash-like with small areas of itchy, reddened skin that may be painful and/or fluid filled. The cause of Malakoplakia is not well understood. It is thought to be related to an issue with the function of one's macrophages, which are one type of cell within the immune system that respond to foreign invaders (bacteria). E.coli is the most common type of bacteria that leads to Malakoplakia. Individuals with a compromised immune system have an elevated risk to develop Malakoplakia.","Curated_Disease_Description_Source__c":"GARD:0006960","GARD_Synonym__c":"malacoplakia","Name":"Malakoplakia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"American Association of Kidney Patients","Website__c":"https://www.aakp.org/"},{"Account_Name__c":"The Kidney Foundation of Canada","Website__c":"https://kidney.ca/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:556"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=44257","Source__c":"C0024525","Xref__c":"MEDGEN:44257"},{"URL__c":"https://www.orpha.net/en/disease/detail/556","Source__c":"C0024525; MONDO:0018913; ORPHA:556","Xref__c":"ORPHA:556"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84833","Source__c":"C0024525; MONDO:0018913","Xref__c":"C84833"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716766007","Source__c":"C0024525; MONDO:0018913","Xref__c":"716766007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0024525","Source__c":"C0024525","Xref__c":"C0024525"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008287","Source__c":"C0024525; MONDO:0018913","Xref__c":"D008287"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=50707001","Source__c":"C0024525","Xref__c":"50707001"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=264545007","Source__c":"C0024525","Xref__c":"264545007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018913","Source__c":"GARD:0006960","Xref__c":"MONDO:0018913"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000464","HPO_Synonym__c":"Abnormality of the neck; Anomaly of the neck","HPO_Name__c":"Abnormality of the neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; Thoracic pain","HPO_Name__c":"Chest pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the ovulation cycle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000140","HPO_Synonym__c":"Abnormality of the menstrual cycle","HPO_Name__c":"Abnormality of the menstrual cycle","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficulty in beginning the process of urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000019","HPO_Synonym__c":"Difficulty with flow","HPO_Name__c":"Urinary hesitancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Urge incontinence is the strong, sudden need to urinate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000012","HPO_Synonym__c":"Overactive bladder; Urgent micturition; Urinary urgency","HPO_Name__c":"Urinary urgency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011123","HPO_Synonym__c":"Abnormal tendency to infections of the skin; Inflammatory abnormality of the skin; Skin inflammation","HPO_Name__c":"Inflammatory abnormality of the skin","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100787","HPO_Name__c":"Prostate neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000157","HPO_Synonym__c":"Abnormal tongue; Abnormality of the tongue; Glossal abnormality; Lingual abnormality; Tongue abnormality","HPO_Name__c":"Abnormality of the tongue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testicular inflammation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100796","HPO_Synonym__c":"Inflammation of testicles","HPO_Name__c":"Orchitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100273","HPO_Synonym__c":"Colon tumor","HPO_Name__c":"Neoplasm of the colon","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100577","HPO_Synonym__c":"Cystitis of the urinary bladder; Urinary bladder inflammation","HPO_Name__c":"Urinary bladder inflammation","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Painful or difficult urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100518","HPO_Synonym__c":"Painful or difficult urination","HPO_Name__c":"Dysuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002729","HPO_Name__c":"Follicular hyperplasia","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100743","HPO_Synonym__c":"Rectal tumor","HPO_Name__c":"Neoplasm of the rectum","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:556","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Gastroenterology"],"Specialist":["Gastroenterology"]},"synonyms":["malacoplakia"]}