{"Name":"Familial multiple lipomatosis","DiseaseID__c":"GARD:0012925","id":12925,"encodedName":"familial-multiple-lipomatosis","IsDeleted":false,"Disease_Name_Full__c":"Familial multiple lipomatosis","Xref_IDs__c":"766888002; C1275273; D000071070; DOID:0070518; MEDGEN:698553; MONDO:0007909; OMIM:151900; ORPHA:199276","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007909","Disease_Description__c":"Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.","GARD_Name__c":"Familial multiple lipomatosis","GARD_Synonym__c":"familial multiple lipomata; fml; lipomatosis, multiple","Curated_Disease_Description_Source__c":"GARD:0012925","Curated_Disease_Description__c":"Familial multiple lipomatosis (FML) is a rare condition that is characterized by multiple lipomas on the trunk and extremities. As the name suggests, FML is diagnosed when multiple lipomatosis occurs in more than one family member, often over several generations. The lipomas associated with FML are usually painless, but may impact quality of life as they can be numerous and large. Although the condition appears to be passed down through families in an autosomal dominant manner, the underlying genetic cause is currently unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:199276","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007909","ORPHANET_ID__c":"ORPHA:199276","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lipomatosis múltiple familiar","Spanish_Description_Source__c":"ORPHA:199276","Spanish_Description__c":"Es una enfermedad cutánea benigna, de origen genético y poco frecuente, caracterizada por el desarrollo de numerosos lipomas indoloros encapsulados localizados en el tejido adiposo subcutáneo del tronco y extremidades, y en menor frecuencia en la región cervical y hombros. Se ha descrito su asociación con lipomatosis gastroduodenal, anomalías cerebrales o lipomatosis y epilepsia refractaria.","Spanish_Disease_Name__c":"lipomatosis múltiple familiar","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":"Familial multiple lipomatosis (FML) is a rare condition that is characterized by multiple lipomas on the trunk and extremities. As the name suggests, FML is diagnosed when multiple lipomatosis occurs in more than one family member, often over several generations. The lipomas associated with FML are usually painless, but may impact quality of life as they can be numerous and large. Although the condition appears to be passed down through families in an autosomal dominant manner, the underlying genetic cause is currently unknown.","Curated_Disease_Description_Source__c":"GARD:0012925","GARD_Synonym__c":"familial multiple lipomata; fml; lipomatosis, multiple","Name":"Familial multiple lipomatosis","estimateUsa":""}],"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/"},{"Account_Name__c":"Fat Disorders Research Society","Website__c":"https://www.fatdisorders.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:199276"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:199276"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:199276"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/151900","Source__c":"C1275273; MONDO:0007909; ORPHA:199276","Xref__c":"OMIM:151900"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1275273","Source__c":"C1275273","Xref__c":"C1275273"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766888002","Source__c":"C1275273; MONDO:0007909","Xref__c":"766888002"},{"URL__c":"https://www.orpha.net/en/disease/detail/199276","Source__c":"C1275273; MONDO:0007909; ORPHA:199276","Xref__c":"ORPHA:199276"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=698553","Source__c":"C1275273","Xref__c":"MEDGEN:698553"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070518","Source__c":"MONDO:0007909","Xref__c":"DOID:0070518"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000071070","Source__c":"C1275273; MONDO:0007909","Xref__c":"D000071070"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007909","Source__c":"GARD:0012925","Xref__c":"MONDO:0007909"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=404063007","Source__c":"C1275273","Xref__c":"404063007"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:199276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199276","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007618","HPO_Synonym__c":"Skin calcification","HPO_Name__c":"Subcutaneous calcification","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006773","HPO_Name__c":"Cutaneous angiolipomas","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of subcutaneous lipoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001031","HPO_Name__c":"Subcutaneous lipoma","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199276","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of multiple subcutaneous lipoma that cause pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007596","HPO_Synonym__c":"Painful noncancerous fat tissue tumor under the skin","HPO_Name__c":"Painful subcutaneous lipomas","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199276","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:199276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased body weight with a body mass index of 25-29.9 kg per square meter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025502","HPO_Name__c":"Overweight","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["familial multiple lipomata"," fml"," lipomatosis, multiple"],"spanishId":13486,"spanishName":"lipomatosis-familiar-multiple"}