{"Name":"Roch-Leri mesosomatous lipomatosis","DiseaseID__c":"GARD:0004733","id":4733,"encodedName":"roch-leri-mesosomatous-lipomatosis","IsDeleted":false,"Disease_Name_Full__c":"Roch-Leri mesosomatous lipomatosis","Xref_IDs__c":"716772007; C4274284; MEDGEN:896565; MONDO:0018884; ORPHA:529","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0018884","Disease_Description__c":"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.","GARD_Name__c":"Roch-Leri mesosomatous lipomatosis","GARD_Synonym__c":"roch leri mesosomatous lipomatosis","Curated_Disease_Description_Source__c":"MONDO:0018884","Curated_Disease_Description__c":"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:529","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018884","ORPHANET_ID__c":"ORPHA:529","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lipomatosis mesosomática de roch-leri","Spanish_Description_Source__c":"ORPHA:529","Spanish_Description__c":"La lipomatosis mesosomática de Roch-Leri es una proliferación benigna y rara del tejido adiposo transmitida con un patrón autosómico dominante, caracterizada por la presencia de múltiples lipomas de pequeño tamaño, de 2 a 5 cm de diámetro, localizados en el tercio medio del cuerpo (antebrazos, tronco y muslos). Las lesiones son habitualmente indoloras y pueden eliminarse fácilmente bajo anestesia local, siempre que no sean confluentes o demasiado numerosas. Desde el año 1984 no se descrito ninguna caso adicional.","Spanish_Disease_Name__c":"lipomatosis mesosomática de roch-leri","Spanish_GARD_Synonym__c":null,"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":"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.","Curated_Disease_Description_Source__c":"MONDO:0018884","GARD_Synonym__c":"roch leri mesosomatous lipomatosis","Name":"Roch-Leri mesosomatous lipomatosis","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:529"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274284","Source__c":"C4274284","Xref__c":"C4274284"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716772007","Source__c":"C4274284; MONDO:0018884","Xref__c":"716772007"},{"URL__c":"https://www.orpha.net/en/disease/detail/529","Source__c":"C4274284; MONDO:0018884; ORPHA:529","Xref__c":"ORPHA:529"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=896565","Source__c":"C4274284","Xref__c":"MEDGEN:896565"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018884","Source__c":"GARD:0004733","Xref__c":"MONDO:0018884"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:529","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:529","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:529","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000979","HPO_Synonym__c":"Red or purple spots on the skin","HPO_Name__c":"Purpura","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:529","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of multiple lipomas (a type of benign tissue made of fatty tissue).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001012","HPO_Synonym__c":"Lipomata; Multiple fatty lumps","HPO_Name__c":"Multiple lipomas","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology"]},"synonyms":["roch leri mesosomatous lipomatosis"]}