{"Name":"PLIN1-related familial partial lipodystrophy","DiseaseID__c":"GARD:0012601","id":12601,"encodedName":"plin1-related-familial-partial-lipodystrophy","IsDeleted":false,"Disease_Name_Full__c":"PLIN1-related familial partial lipodystrophy","Xref_IDs__c":"C5191005; DOID:0070205; MEDGEN:1675945; MONDO:0013478; OMIM:613877; ORPHA:280356","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:280356","Disease_Description__c":"A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.","GARD_Name__c":"PLIN1-related familial partial lipodystrophy","GARD_Synonym__c":"fpld4; fpld4 - familial partial lipodystrophy type 4; lipodystrophy, familial partial, associated with plin1 mutations; perilipin 1 related familial partial lipodystrophy; plin1-related fpld","Curated_Disease_Description_Source__c":"ORPHA:280356","Curated_Disease_Description__c":"A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:280356","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013478","ORPHANET_ID__c":"ORPHA:280356","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lipodistrofia parcial familiar asociada al gen plin1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"lipodistrofia parcial familiar asociada al gen plin1","Spanish_GARD_Synonym__c":"fpld asociada a plin1; fpld asociada al gen plin1; fpld4","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 loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.","Curated_Disease_Description_Source__c":"ORPHA:280356","GARD_Synonym__c":"fpld4; fpld4 - familial partial lipodystrophy type 4; lipodystrophy, familial partial, associated with plin1 mutations; perilipin 1 related familial partial lipodystrophy; plin1-related fpld","Name":"PLIN1-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":"Childhood","Provided_By__c":"ORPHA:280356"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3151268"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/613877","Source__c":"C5191005; MONDO:0013478; ORPHA:280356","Xref__c":"OMIM:613877"},{"URL__c":"https://www.orpha.net/en/disease/detail/280356","Source__c":"C5191005; MONDO:0013478; ORPHA:280356","Xref__c":"ORPHA:280356"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5191005","Source__c":"C5191005","Xref__c":"C5191005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1675945","Source__c":"C5191005","Xref__c":"MEDGEN:1675945"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070205","Source__c":"MONDO:0013478","Xref__c":"DOID:0070205"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783616005","Source__c":"C5191005","Xref__c":"783616005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013478","Source__c":"GARD:0012601","Xref__c":"MONDO:0013478"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLIN1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:280356","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000789","HPO_Synonym__c":"Infertility","HPO_Name__c":"Infertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280356","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280356","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:280356","HPO_Frequency__c":"Always (100%)","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:280356","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001395","HPO_Synonym__c":"Liver fibrosis","HPO_Name__c":"Hepatic fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280356","HPO_Frequency__c":"Always (100%)","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:280356","HPO_Frequency__c":"Very frequent (80-99%)","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:280356","HPO_Frequency__c":"Always (100%)","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:280356","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of a hormone in the blood circulation outside of normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003117","HPO_Synonym__c":"Abnormal circulating hormone level; Abnormality of circulating hormone level","HPO_Name__c":"Abnormal circulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280356","HPO_Frequency__c":"Frequent (30-79%)","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:280356","HPO_Frequency__c":"Always (100%)","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":"ORPHA:280356","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Localized loss of fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100578","HPO_Synonym__c":"Atrophy of fat; Loss of fat tissue in localized area","HPO_Name__c":"Lipoatrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280356","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:280356","HPO_Frequency__c":"Always (100%)","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":"ORPHA:280356","HPO_Frequency__c":"Frequent (30-79%)","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:280356","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Dermatology"],"Specialist":["Genetics","Endocrine","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["fpld4"," fpld4 - familial partial lipodystrophy type 4"," lipodystrophy, familial partial, associated with plin1 mutations"," perilipin 1 related familial partial lipodystrophy"," plin1-related fpld"]}