{"Name":"CIDEC-related familial partial lipodystrophy","DiseaseID__c":"GARD:0013125","id":13125,"encodedName":"cidec-related-familial-partial-lipodystrophy","IsDeleted":false,"Disease_Name_Full__c":"CIDEC-related familial partial lipodystrophy","Xref_IDs__c":"1197749008; C3808940; DOID:0070203; MEDGEN:815270; MONDO:0014098; OMIM:615238; ORPHA:435651","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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:435651","Disease_Description__c":"A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.","GARD_Name__c":"CIDEC-related familial partial lipodystrophy","GARD_Synonym__c":"cell death inducing dffa like effector c-related familial partial lipodystrophy; cidec-related fpld; familial partial lipodystrophy 5; fpld5; fpld5 - familial partial lipodystrophy type 5; lipodystrophy, familial partial, associated with cidec mutations","Curated_Disease_Description_Source__c":"ORPHA:435651","Curated_Disease_Description__c":"A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager","SourceID__c":"ORPHA:435651","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014098","ORPHANET_ID__c":"ORPHA:435651","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lipodistrofia parcial familiar asociada a cidec","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"lipodistrofia parcial familiar asociada a cidec","Spanish_GARD_Synonym__c":"fpld5","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 preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.","Curated_Disease_Description_Source__c":"ORPHA:435651","GARD_Synonym__c":"cell death inducing dffa like effector c-related familial partial lipodystrophy; cidec-related fpld; familial partial lipodystrophy 5; fpld5; fpld5 - familial partial lipodystrophy type 5; lipodystrophy, familial partial, associated with cidec mutations","Name":"CIDEC-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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:435651"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3808940"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/435651","Source__c":"C3808940; MONDO:0014098; ORPHA:435651","Xref__c":"ORPHA:435651"},{"URL__c":"https://www.omim.org/entry/615238","Source__c":"C3808940; MONDO:0014098; ORPHA:435651","Xref__c":"OMIM:615238"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070203","Source__c":"MONDO:0014098","Xref__c":"DOID:0070203"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=815270","Source__c":"C3808940","Xref__c":"MEDGEN:815270"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3808940","Source__c":"C3808940","Xref__c":"C3808940"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014098","Source__c":"GARD:0013125","Xref__c":"MONDO:0014098"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197749008","Source__c":"C3808940","Xref__c":"1197749008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CIDEC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:435651","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:435651","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscle hypertrophy affecting the calf muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008981","HPO_Synonym__c":"Calf hypertrophy; Increased size of calf muscles; Muscular hypertrophy of the calf muscles","HPO_Name__c":"Calf muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435651","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435651","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:435651","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:435651","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:435651","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"}},{"Provided_By__c":"ORPHA:435651","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:435651","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:435651","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:435651","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Loss of normal subcutaneous fat tissue in the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000292","HPO_Synonym__c":"Decreased amount of facial adipose tissue; Decreased amount of facial fat; Decreased volume of facial adipose tissue; Loss of facial fat; Loss of facial subcutaneous adipose tissue; Loss of subcutaneous adipose tissue from face","HPO_Name__c":"Loss of facial adipose tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435651","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:435651","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:435651","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:435651","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:435651","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Dermatology"],"Specialist":["Genetics","Endocrine","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["cell death inducing dffa like effector c-related familial partial lipodystrophy"," cidec-related fpld"," familial partial lipodystrophy 5"," fpld5"," fpld5 - familial partial lipodystrophy type 5"," lipodystrophy, familial partial, associated with cidec mutations"]}