{"Name":"Congenital generalized lipodystrophy type 1","DiseaseID__c":"GARD:0000084","id":84,"encodedName":"congenital-generalized-lipodystrophy-type-1","IsDeleted":false,"Disease_Name_Full__c":"Congenital generalized lipodystrophy type 1","Xref_IDs__c":"C1720862; DOID:0111135; MEDGEN:318592; MONDO:0012071; OMIM:608594; ORPHA:696189","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:0012071","Disease_Description__c":"Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.","GARD_Name__c":"Congenital generalized lipodystrophy type 1","GARD_Synonym__c":"agpat2 congenital generalised lipodystrophy (disease); agpat2 congenital generalized lipodystrophy (disease); berardinelli-seip congenital lipodystrophy type 1; berardinelli-seip congenital lipodystrophy, type 1; brunzell syndrome agpat2-related; brunzell syndrome, agpat2-related; bscl1; cgl1; congenital generalised lipodystrophy (disease) caused by mutation in agpat2; congenital generalized lipodystrophy (disease) caused by mutation in agpat2","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is a rare genetic disease that affects how the body stores fat. People with CGL have very little fat from birth or early infancy, and their bodies have trouble using insulin properly. This can lead to high blood sugar levels and diabetes. Other symptoms of CGL include dark, thickened patches of skin, enlarged liver, and high levels of triglycerides in the blood. CGL type 1 is caused by changes in the AGPAT2 gene. This gene plays a role in how the body processes fat. CGL type 1 follows an autosomal recessive pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:608594","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012071","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lipodistrofia congénita generalizada tipo 1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"lipodistrofia congénita generalizada tipo 1","Spanish_GARD_Synonym__c":"bscl tipo 1; cgl1; lcg1; síndrome de berardinelli-seip tipo 1","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 (CGL), also known as Berardinelli-Seip syndrome, is a rare genetic disease that affects how the body stores fat. People with CGL have very little fat from birth or early infancy, and their bodies have trouble using insulin properly. This can lead to high blood sugar levels and diabetes. Other symptoms of CGL include dark, thickened patches of skin, enlarged liver, and high levels of triglycerides in the blood. CGL type 1 is caused by changes in the AGPAT2 gene. This gene plays a role in how the body processes fat. CGL type 1 follows an autosomal recessive pattern of inheritance.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"agpat2 congenital generalised lipodystrophy (disease); agpat2 congenital generalized lipodystrophy (disease); berardinelli-seip congenital lipodystrophy type 1; berardinelli-seip congenital lipodystrophy, type 1; brunzell syndrome agpat2-related; brunzell syndrome, agpat2-related; bscl1; cgl1; congenital generalised lipodystrophy (disease) caused by mutation in agpat2; congenital generalized lipodystrophy (disease) caused by mutation in agpat2","Name":"Congenital generalized lipodystrophy type 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Lipodystrophy United","Website__c":"https://www.lipodystrophyunited.org"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000084","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1212","Source__c":"Gene Review","Xref__c":"NBK1212"},{"URL__c":"https://www.omim.org/entry/608594","Source__c":"C1720862; MONDO:0012071","Xref__c":"OMIM:608594"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111135","Source__c":"MONDO:0012071","Xref__c":"DOID:0111135"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=318592","Source__c":"C1720862","Xref__c":"MEDGEN:318592"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1720862","Source__c":"C1720862","Xref__c":"C1720862"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012071","Source__c":"GARD:0000084","Xref__c":"MONDO:0012071"},{"URL__c":"https://www.orpha.net/en/disease/detail/696189","Source__c":"MONDO:0012071","Xref__c":"ORPHA:696189"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AGPAT2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/agpat2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608594","Feature__r":{"HPO_Description__c":"Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002833","HPO_Synonym__c":"Lytic cystic lesions in appendicular bones","HPO_Name__c":"Cystic angiomatosis of bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","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":"OMIM:608594","Feature__r":{"HPO_Description__c":"An increased concentration of insulin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000842","HPO_Synonym__c":"Elevated insulin level","HPO_Name__c":"Hyperinsulinemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608594","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:608594","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000065","HPO_Synonym__c":"Enlarged vaginal lips; Enlargement of the labia; Enlargement of the vaginal lips","HPO_Name__c":"Labial hypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","Feature__r":{"HPO_Description__c":"An abnormally reduced amount of adipose tissue in the thoracic cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003809","HPO_Name__c":"Reduced intrathoracic adipose tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","Feature__r":{"HPO_Description__c":"An abnormally reduced amount of adipose tissue in the abdominal cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025128","HPO_Name__c":"Reduced intraabdominal adipose tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001176","HPO_Synonym__c":"Disproportionately large hands; large hand; Large hands","HPO_Name__c":"Large hands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","Feature__r":{"HPO_Description__c":"An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005616","HPO_Synonym__c":"Advanced bone age; Early bone maturation; Premature epiphyseal closure; Premature epiphyseal ossification; Premature fusion of the epiphyseal growth plate","HPO_Name__c":"Accelerated skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","HPO_Frequency__c":"Frequent (30-79%)","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:608594","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":"OMIM:608594","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000877","HPO_Synonym__c":"Insulin-resistant diabetes mellitus at puberty","HPO_Name__c":"Insulin-resistant diabetes mellitus at puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","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:608594","Feature__r":{"HPO_Description__c":"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000325","HPO_Synonym__c":"Face with broad temples and narrow chin; Inverted triangular face; Triangular face; Triangular facial shape; Triangular facies","HPO_Name__c":"Triangular face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003716","HPO_Name__c":"Generalized muscular appearance from birth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","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:608594","Feature__r":{"HPO_Description__c":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001537","HPO_Synonym__c":"Umbilical hernias","HPO_Name__c":"Umbilical hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","Feature__r":{"HPO_Description__c":"A acute form of pancreatitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001735","HPO_Synonym__c":"Acute pancreatic inflammation; Pancreatitis, acute","HPO_Name__c":"Acute pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","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:608594","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":"OMIM:608594","Feature__r":{"HPO_Description__c":"Increased back to front length of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001833","HPO_Synonym__c":"Disproportionately large feet; large feet; long feet; Long foot","HPO_Name__c":"Long foot","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000868","HPO_Synonym__c":"Decreased fertility in females; Reduced fertility in females","HPO_Name__c":"Decreased fertility in females","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","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":"OMIM:608594","Feature__r":{"HPO_Description__c":"A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002591","HPO_Synonym__c":"Hyperphagia; Voracious appetite","HPO_Name__c":"Polyphagia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","Feature__r":{"HPO_Description__c":"A height above that which is expected according to age and sex norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000098","HPO_Synonym__c":"Accelerated linear growth; Increased body height; Increased linear growth; Tall stature","HPO_Name__c":"Tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608594","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:608594","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; 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SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{},"synonyms":["agpat2 congenital generalised lipodystrophy (disease)"," agpat2 congenital generalized lipodystrophy (disease)"," berardinelli-seip congenital lipodystrophy type 1"," berardinelli-seip congenital lipodystrophy, type 1"," brunzell syndrome agpat2-related"," brunzell syndrome, agpat2-related"," bscl1"," cgl1"," congenital generalised lipodystrophy (disease) caused by mutation in agpat2"," congenital generalized lipodystrophy (disease) caused by mutation in agpat2"]}