{"Name":"LIPE-related familial partial lipodystrophy","DiseaseID__c":"GARD:0013126","id":13126,"encodedName":"lipe-related-familial-partial-lipodystrophy","IsDeleted":false,"Disease_Name_Full__c":"LIPE-related familial partial lipodystrophy","Xref_IDs__c":"1197751007; C4014869; DOID:0070206; MEDGEN:863306; MONDO:0014431; OMIM:615980; ORPHA:435660","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:435660","Disease_Description__c":"A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.","GARD_Name__c":"LIPE-related familial partial lipodystrophy","GARD_Synonym__c":"familial partial lipodystrophy 6; familial partial lipodystrophy associated with lipe mutations; fpld6; fpld6 - familial partial lipodystrophy type 6; lipase e, hormone sensitive type-related familial partial lipodystrophy; lipe-related fpld; lipodystrophy, familial partial, associated with lipe mutations","Curated_Disease_Description_Source__c":"ORPHA:435660","Curated_Disease_Description__c":"A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:435660","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014431","ORPHANET_ID__c":"ORPHA:435660","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lipodistrofia parcial familiar asociada al gen lipe","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"lipodistrofia parcial familiar asociada al gen lipe","Spanish_GARD_Synonym__c":"fpld asociada a lipe; fpld asociada al gen lipe; fpld6","Category_Linearization__c":"ORPHA:97978","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":"A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.","Curated_Disease_Description_Source__c":"ORPHA:435660","GARD_Synonym__c":"familial partial lipodystrophy 6; familial partial lipodystrophy associated with lipe mutations; fpld6; fpld6 - familial partial lipodystrophy type 6; lipase e, hormone sensitive type-related familial partial lipodystrophy; lipe-related fpld; lipodystrophy, familial partial, associated with lipe mutations","Name":"LIPE-related familial partial lipodystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Lipodystrophy United","Website__c":"https://www.lipodystrophyunited.org"}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Adult","Provided_By__c":"ORPHA:435660"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C4014869"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863306","Source__c":"C4014869","Xref__c":"MEDGEN:863306"},{"URL__c":"https://www.orpha.net/en/disease/detail/435660","Source__c":"C4014869; MONDO:0014431; ORPHA:435660","Xref__c":"ORPHA:435660"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4014869","Source__c":"C4014869","Xref__c":"C4014869"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070206","Source__c":"MONDO:0014431","Xref__c":"DOID:0070206"},{"URL__c":"https://www.omim.org/entry/615980","Source__c":"C4014869; MONDO:0014431; ORPHA:435660","Xref__c":"OMIM:615980"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197751007","Source__c":"C4014869","Xref__c":"1197751007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014431","Source__c":"GARD:0013126","Xref__c":"MONDO:0014431"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LIPE","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001397","HPO_Synonym__c":"Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis","HPO_Name__c":"Hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the amount of intraabdominal fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008993","HPO_Name__c":"Increased intraabdominal fat","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000147","HPO_Synonym__c":"Polycystic ovary; Sclerocystic ovaries","HPO_Name__c":"Polycystic ovaries","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009017","HPO_Synonym__c":"Loss of fat tissue below the skin in gluts","HPO_Name__c":"Loss of gluteal subcutaneous adipose tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Degenerative changes of the fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009125","HPO_Synonym__c":"Inability to make and keep healthy fat tissue","HPO_Name__c":"Lipodystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An increased amount of subcutaneous fat tissue around the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000468","HPO_Synonym__c":"Increased fat around the neck","HPO_Name__c":"Increased adipose tissue around the neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the outer labia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012881","HPO_Synonym__c":"Abnormality of the labia majora; Abnormality of vaginal lips","HPO_Name__c":"Abnormal labia majora morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008994","HPO_Synonym__c":"Muscle weakness, proximal, lower limbs; Proximal muscle weakness in lower limbs","HPO_Name__c":"Proximal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000956","HPO_Synonym__c":"Darkened and thickened skin; Keratosis nigricans","HPO_Name__c":"Acanthosis nigricans","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Very frequent (80-99%)","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:435660","HPO_Frequency__c":"Always (100%)","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:435660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000831","HPO_Synonym__c":"Insulin resistant diabetes; Insulin resistant diabetes mellitus; Insulin-resistant diabetes","HPO_Name__c":"Insulin-resistant diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008997","HPO_Synonym__c":"Proximal muscle weakness in upper limbs","HPO_Name__c":"Proximal upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030685","HPO_Name__c":"Decreased adiponectin level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the level of triglycerides in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002155","HPO_Synonym__c":"Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides","HPO_Name__c":"Hypertriglyceridemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003635","HPO_Synonym__c":"Loss of fat tissue below the skin in limbs; Loss of subcutaneous adipose tissue from extremities","HPO_Name__c":"Loss of subcutaneous adipose tissue in limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Infrequent menses (less than 6 per year or more than 35 days between cycles).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000876","HPO_Synonym__c":"Light or infrequent menstrual periods","HPO_Name__c":"Oligomenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increase in muscle size and mass not due to training.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003712","HPO_Synonym__c":"Hypertrophic muscles; Increased skeletal muscle cells; Muscle hypertrophy; Muscular hypertrophy","HPO_Name__c":"Skeletal muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of leptin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003292","HPO_Synonym__c":"Decreased serum leptin; Reduced circulating leptin level","HPO_Name__c":"Decreased serum leptin","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Dermatology"],"Specialist":["Genetics","Endocrine","Dermatology"],"Account":["Dermatology"]},"synonyms":["familial partial lipodystrophy 6"," familial partial lipodystrophy associated with lipe mutations"," fpld6"," fpld6 - familial partial lipodystrophy type 6"," lipase e, hormone sensitive type-related familial partial lipodystrophy"," lipe-related fpld"," lipodystrophy, familial partial, associated with lipe mutations"]}