{"Name":"Xanthoma disseminatum","DiseaseID__c":"GARD:0013186","id":13186,"encodedName":"xanthoma-disseminatum","IsDeleted":false,"Disease_Name_Full__c":"Xanthoma disseminatum","Xref_IDs__c":"399970005; C0043322; MEDGEN:12178; MONDO:0015535; ORPHA:158003","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:158003","Disease_Description__c":"A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision.","GARD_Name__c":"Xanthoma disseminatum","GARD_Synonym__c":"diffuse xanthoma; disseminated xanthosiderohistiocytosis; montgomery syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Xanthoma disseminatum is a rare disease that affects multiple areas of the body. It causes yellowish-red or brown bumps on the skin and inside the mouth and nose. Sometimes, it can also affect organs and parts of the brain like the pituitary gland and hypothalamus which release hormones in the body to regulate various body functions. This can cause problems like diabetes insipidus (which makes you very thirsty and causes you to  urinate a lot), difficulty swallowing, breathing problems, hoarseness, and blurry vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:158003","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015535","ORPHANET_ID__c":"ORPHA:158003","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Xantoma diseminado","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"xantoma diseminado","Spanish_GARD_Synonym__c":"síndrome de montgomery","Category_Linearization__c":"ORPHA:89826","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":"Xanthoma disseminatum is a rare disease that affects multiple areas of the body. It causes yellowish-red or brown bumps on the skin and inside the mouth and nose. Sometimes, it can also affect organs and parts of the brain like the pituitary gland and hypothalamus which release hormones in the body to regulate various body functions. This can cause problems like diabetes insipidus (which makes you very thirsty and causes you to  urinate a lot), difficulty swallowing, breathing problems, hoarseness, and blurry vision.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"diffuse xanthoma; disseminated xanthosiderohistiocytosis; montgomery syndrome","Name":"Xanthoma disseminatum","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:158003"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:158003"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:158003"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0043322","Source__c":"C0043322","Xref__c":"C0043322"},{"URL__c":"https://www.orpha.net/en/disease/detail/158003","Source__c":"C0043322; MONDO:0015535; ORPHA:158003","Xref__c":"ORPHA:158003"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=399970005","Source__c":"C0043322; MONDO:0015535","Xref__c":"399970005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=12178","Source__c":"C0043322","Xref__c":"MEDGEN:12178"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015535","Source__c":"GARD:0013186","Xref__c":"MONDO:0015535"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:158003","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002797","HPO_Synonym__c":"Breakdown of bone; Increased bone resorption; Osteolytic defects of bones","HPO_Name__c":"Osteolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158003","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000159","HPO_Synonym__c":"Abnormal lip; Abnormality of the lip; Lip abnormality","HPO_Name__c":"Abnormal lip morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158003","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000600","HPO_Name__c":"Abnormality of the pharynx","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000873","HPO_Name__c":"Diabetes insipidus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158003","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025426","HPO_Synonym__c":"Abnormality of the bronchi","HPO_Name__c":"Abnormal bronchus morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158003","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the larynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001600","HPO_Synonym__c":"Laryngeal abnormalities; Laryngeal anomalies","HPO_Name__c":"Abnormality of the larynx","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Rheumatology","Dermatology","Pediatrics"],"Account":["Dermatology"],"Disease Category":["Dermatology"]},"synonyms":["diffuse xanthoma"," disseminated xanthosiderohistiocytosis"," montgomery syndrome"]}