{"Name":"Multiple symmetric lipomatosis","DiseaseID__c":"GARD:0006957","id":6957,"encodedName":"multiple-symmetric-lipomatosis","IsDeleted":false,"Disease_Name_Full__c":"Multiple symmetric lipomatosis","Xref_IDs__c":"238902007; C0023804; C4392; DOID:14116; MEDGEN:7349; MONDO:0007908; OMIM:151800; ORPHA:2398","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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":4,"Description_Source__c":"MONDO:0007908","Disease_Description__c":"A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).","GARD_Name__c":"Multiple symmetric lipomatosis","GARD_Synonym__c":"benign symmetrical lipomatosis; cephalothoracic lipodystrophy; cervical symmetrical lipomatosis; familial benign cervical lipomatosis; launois bensaude lipomatosis; launois-bensaude lipomatosis; launois-bensaude syndrome; launois-bensaude's lipomatosis; lipodystrophy, cephalothoracic; lipomatosis, familial benign cervical; lms - multiple symmetrical lipomatosis; madelung disease; madelung neck; madelung's disease; madelung's neck; multiple symmetrical lipomatosis","Curated_Disease_Description_Source__c":"GARD:0006957","Curated_Disease_Description__c":"Multiple symmetric lipomatosis is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. Non-alcoholics and women can also be affected. The signs and symptoms vary greatly from person to person. Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain. The lipomas can cause physical deformity and peripheral neuropathy, when they compress a nerve. In the majority of cases, the condition does not lead to cancer; however, lipomas can become cancerous in rare circumstances. The exact cause of the condition is unknown, but it may be associated with genetic changes in mitochondrial DNA.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2398","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007908","ORPHANET_ID__c":"ORPHA:2398","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lipomatosis simétrica múltiple","Spanish_Description_Source__c":"ORPHA:2398","Spanish_Description__c":"Es una enfermedad del tejido subcutáneo poco frecuente caracterizada por el crecimiento de masas simétricas no encapsuladas de tejido adiposo, principalmente alrededor de la cara y el cuello, con repercusiones clínicas variables (p. ej. reducción de la movilidad del cuello, compresión de las estructuras respiratorias).","Spanish_Disease_Name__c":"lipomatosis simétrica múltiple","Spanish_GARD_Synonym__c":"enfermedad de madelung; lipodistrofia cefalotorácica; lipomatosis cervical familiar benigna; lipomatosis de launois-bensaude","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":"Multiple symmetric lipomatosis is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. Non-alcoholics and women can also be affected. The signs and symptoms vary greatly from person to person. Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain. The lipomas can cause physical deformity and peripheral neuropathy, when they compress a nerve. In the majority of cases, the condition does not lead to cancer; however, lipomas can become cancerous in rare circumstances. The exact cause of the condition is unknown, but it may be associated with genetic changes in mitochondrial DNA.","Curated_Disease_Description_Source__c":"GARD:0006957","GARD_Synonym__c":"benign symmetrical lipomatosis; cephalothoracic lipodystrophy; cervical symmetrical lipomatosis; familial benign cervical lipomatosis; launois bensaude lipomatosis; launois-bensaude lipomatosis; launois-bensaude syndrome; launois-bensaude's lipomatosis; lipodystrophy, cephalothoracic; lipomatosis, familial benign cervical; lms - multiple symmetrical lipomatosis; madelung disease; madelung neck; madelung's disease; madelung's neck; multiple symmetrical lipomatosis","Name":"Multiple symmetric lipomatosis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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/"},{"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":"Elderly","Provided_By__c":"ORPHA:2398"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2398"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2398"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2398"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006957","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/2398","Source__c":"C0023804; MONDO:0007908; ORPHA:2398","Xref__c":"ORPHA:2398"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7349","Source__c":"C0023804","Xref__c":"MEDGEN:7349"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023804","Source__c":"C0023804","Xref__c":"C0023804"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14116","Source__c":"MONDO:0007908","Xref__c":"DOID:14116"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4392","Source__c":"C0023804; MONDO:0007908","Xref__c":"C4392"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238902007","Source__c":"C0023804; MONDO:0007908","Xref__c":"238902007"},{"URL__c":"https://www.omim.org/entry/151800","Source__c":"C0023804; MONDO:0007908; ORPHA:2398","Xref__c":"OMIM:151800"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007908","Source__c":"GARD:0006957","Xref__c":"MONDO:0007908"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008069","Source__c":"C0023804","Xref__c":"D008069"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3193","Source__c":"C0023804","Xref__c":"C3193"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MFN2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mfn2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant","Mitochondrial inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2398","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009124","HPO_Synonym__c":"Abnormality of adipose tissue; Abnormality of fat tissue; Abnormality of fatty tissue","HPO_Name__c":"Abnormal adipose tissue morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2398","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2398","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000855","HPO_Synonym__c":"Body fails to respond to insulin","HPO_Name__c":"Insulin resistance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2398","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2398","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2398","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:2398","HPO_Frequency__c":"Frequent (30-79%)","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:2398","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2398","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2398","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["benign symmetrical lipomatosis"," cephalothoracic lipodystrophy"," cervical symmetrical lipomatosis"," familial benign cervical lipomatosis"," launois bensaude lipomatosis"," launois-bensaude lipomatosis"," launois-bensaude syndrome"," launois-bensaude's lipomatosis"," lipodystrophy, cephalothoracic"," lipomatosis, familial benign cervical"," lms - multiple symmetrical lipomatosis"," madelung disease"," madelung neck"," madelung's disease"," madelung's neck"," multiple symmetrical lipomatosis"],"spanishId":13182,"spanishName":"lipomatosis-simetrica-multiple"}