{"Name":"Whipple's disease","DiseaseID__c":"GARD:0007889","id":7889,"encodedName":"whipples-disease","IsDeleted":false,"Disease_Name_Full__c":"Whipple's disease","Xref_IDs__c":"41545003; C0023788; C85228; D008061; DOID:8476; K90.81; MEDGEN:7347; MONDO:0005116; ORPHA:3452","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","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":0,"Description_Source__c":"MONDO:0005116","Disease_Description__c":"A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system.","GARD_Name__c":"Whipple's disease","GARD_Synonym__c":"intestinal lipodystrophy; intestinal lipophagic granulomatosis; intestinal whipple's disease; secondary non-tropical sprue; tropheryma whipplei caused disease or disorder; tropheryma whipplei disease or disorder; tropheryma whipplei infectious disease; wd - whipple's disease; whipple disease","Curated_Disease_Description_Source__c":"GARD:0007889","Curated_Disease_Description__c":"Whipple disease is an infectious bacterial disease that affects many different organ systems and interferes with the body's ability to process (metabolize) fats. The disease usually occurs in the gastrointestinal system, but may affect any part of the body including the heart, lungs, brain, joints, and eyes. In the gastrointestinal system, it interferes with the body's ability to absorb certain nutrients. This leads to a condition known as malabsorption. Whipple disease causes weight loss, incomplete breakdown of carbohydrates or fats, and problems with the immune system. It is caused by infection from bacteria called Tropheryma whipplei.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:3452","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0005116","ORPHANET_ID__c":"ORPHA:3452","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de whipple","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de whipple","Spanish_GARD_Synonym__c":"lipodistrofia intestinal","Category_Linearization__c":"ORPHA:68416","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":"Whipple disease is an infectious bacterial disease that affects many different organ systems and interferes with the body's ability to process (metabolize) fats. The disease usually occurs in the gastrointestinal system, but may affect any part of the body including the heart, lungs, brain, joints, and eyes. In the gastrointestinal system, it interferes with the body's ability to absorb certain nutrients. This leads to a condition known as malabsorption. Whipple disease causes weight loss, incomplete breakdown of carbohydrates or fats, and problems with the immune system. It is caused by infection from bacteria called Tropheryma whipplei.","Curated_Disease_Description_Source__c":"GARD:0007889","GARD_Synonym__c":"intestinal lipodystrophy; intestinal lipophagic granulomatosis; intestinal whipple's disease; secondary non-tropical sprue; tropheryma whipplei caused disease or disorder; tropheryma whipplei disease or disorder; tropheryma whipplei infectious disease; wd - whipple's disease; whipple disease","Name":"Whipple's disease","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Infectious Disease","Tag_Category__c":"Disease Category;Specialist","category_description":"Infectious diseases are caused by bacteria, viruses, fungi, or parasites entering the body, multiplying, and spreading illness.","curated_tag_name":"Infectious diseases"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"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"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Rare Bacterial Infectious Disease","Tag_Category__c":"Cause","curated_tag_name":"Bacterial Infectious Disease"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:3452"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007889","Source__c":"RareSource"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/K90.81","Source__c":"MONDO:0005116","Xref__c":"K90.81"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=41545003","Source__c":"C0023788; MONDO:0005116","Xref__c":"41545003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008061","Source__c":"C0023788; MONDO:0005116","Xref__c":"D008061"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023788","Source__c":"C0023788","Xref__c":"C0023788"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7347","Source__c":"C0023788","Xref__c":"MEDGEN:7347"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8476","Source__c":"MONDO:0005116","Xref__c":"DOID:8476"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85228","Source__c":"C0023788; MONDO:0005116","Xref__c":"C85228"},{"URL__c":"https://www.orpha.net/en/disease/detail/3452","Source__c":"C0023788; MONDO:0005116; ORPHA:3452","Xref__c":"ORPHA:3452"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005116","Source__c":"GARD:0007889","Xref__c":"MONDO:0005116"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3452","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100639","HPO_Synonym__c":"Abnormal erection; 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This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3452","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:3452","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006824","HPO_Synonym__c":"Cranial nerve palsies; Cranial nerve palsy; Cranial nerve paresis","HPO_Name__c":"Cranial nerve paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3452","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3452","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:3452","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100829","HPO_Synonym__c":"Galactorrhoea; Spontaneous milk flow from breast","HPO_Name__c":"Galactorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3452","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Infectious Disease","Genetics","Neurology","Gastroenterology"],"Specialist":["Infectious Disease","Genetics","Neurology","Immunology","Gastroenterology"],"Cause":["Genetics","Rare Bacterial Infectious Disease"],"Account":["Primary Immune Deficiencies"]},"synonyms":["intestinal lipodystrophy"," intestinal lipophagic granulomatosis"," intestinal whipple's disease"," secondary non-tropical sprue"," tropheryma whipplei caused disease or disorder"," tropheryma whipplei disease or disorder"," tropheryma whipplei infectious disease"," wd - whipple's disease"," whipple disease"],"spanishId":13253,"spanishName":"enfermedad-de-whipple"}