{"Name":"Congenital generalized lipodystrophy type 3","DiseaseID__c":"GARD:0013389","id":13389,"encodedName":"congenital-generalized-lipodystrophy-type-3","IsDeleted":false,"Disease_Name_Full__c":"Congenital generalized lipodystrophy type 3","Xref_IDs__c":"C2675861; C567282; DOID:0111137; MEDGEN:436541; MONDO:0012923; OMIM:612526; ORPHA:696206","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012923","Disease_Description__c":"Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.","GARD_Name__c":"Congenital generalized lipodystrophy type 3","GARD_Synonym__c":"berardinelli-seip congenital lipodystrophy type 3; berardinelli-seip congenital lipodystrophy, type 3; bscl3; cav1 congenital generalised lipodystrophy (disease); cav1 congenital generalized lipodystrophy (disease); cgl3; congenital generalised lipodystrophy (disease) caused by mutation in cav1; congenital generalized lipodystrophy (disease) caused by mutation in cav1","Curated_Disease_Description_Source__c":"MEDGEN:C2675861","Curated_Disease_Description__c":"Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:612526","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012923","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lipodistrofia congénita generalizada tipo 3","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"lipodistrofia congénita generalizada tipo 3","Spanish_GARD_Synonym__c":"bscl tipo 3; cgl3; lcg3; síndrome de berardinelli-seip tipo 3","Category_Linearization__c":null,"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":"Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).","Curated_Disease_Description_Source__c":"MEDGEN:C2675861","GARD_Synonym__c":"berardinelli-seip congenital lipodystrophy type 3; berardinelli-seip congenital lipodystrophy, type 3; bscl3; cav1 congenital generalised lipodystrophy (disease); cav1 congenital generalized lipodystrophy (disease); cgl3; congenital generalised lipodystrophy (disease) caused by mutation in cav1; congenital generalized lipodystrophy (disease) caused by mutation in cav1","Name":"Congenital generalized lipodystrophy type 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Lipodystrophy United","Website__c":"https://www.lipodystrophyunited.org"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2675861"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013389","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2675861","Source__c":"C2675861","Xref__c":"C2675861"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=436541","Source__c":"C2675861","Xref__c":"MEDGEN:436541"},{"URL__c":"https://www.omim.org/entry/612526","Source__c":"C2675861; MONDO:0012923; ORPHA:696206","Xref__c":"OMIM:612526"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111137","Source__c":"MONDO:0012923","Xref__c":"DOID:0111137"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567282","Source__c":"MONDO:0012923","Xref__c":"C567282"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012923","Source__c":"GARD:0013389","Xref__c":"MONDO:0012923"},{"URL__c":"https://www.orpha.net/en/disease/detail/696206","Source__c":"MONDO:0012923","Xref__c":"ORPHA:696206"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CAV1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cav1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612526","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612526","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":"OMIM:612526","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":"OMIM:612526","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000786","HPO_Name__c":"Primary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612526","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":"OMIM:612526","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612526","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":"OMIM:612526","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001007","HPO_Synonym__c":"Excessive hairiness","HPO_Name__c":"Hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612526","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002901","HPO_Synonym__c":"Hypocalcaemia; Low blood calcium levels","HPO_Name__c":"Hypocalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:612526","Feature__r":{"HPO_Description__c":"A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003758","HPO_Synonym__c":"Decreased subcutaneous adipose tissue; Decreased subcutaneous fat; Reduced fat tissue below the skin; Reduced subcutaneous fat; Scanty adipose tissue","HPO_Name__c":"Reduced subcutaneous adipose tissue","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612526","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":"OMIM:612526","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612526","Feature__r":{"HPO_Description__c":"Generalized degenerative changes of the fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009064","HPO_Synonym__c":"Lipodystrophy, generalized","HPO_Name__c":"Generalized lipodystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612526","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":"OMIM:612526","Feature__r":{"HPO_Description__c":"An increased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003124","HPO_Synonym__c":"Elevated serum cholesterol; Elevated total cholesterol; Increased total cholesterol","HPO_Name__c":"Hypercholesterolemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:612526","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["berardinelli-seip congenital lipodystrophy type 3"," berardinelli-seip congenital lipodystrophy, type 3"," bscl3"," cav1 congenital generalised lipodystrophy (disease)"," cav1 congenital generalized lipodystrophy (disease)"," cgl3"," congenital generalised lipodystrophy (disease) caused by mutation in cav1"," congenital generalized lipodystrophy (disease) caused by mutation in cav1"]}