{"orpha":280365,"name":"Autosomal semi-dominant severe lipodystrophic laminopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280365/","orphanet_url":"https://www.orpha.net/en/disease/detail/280365","names":{"fr":{"name":"Laminopathie lipodystrophique sévère autosomique semi-dominante","definition":"Lipodystrophie partielle familiale rare, caractérisée par une lipoatrophie partielle sévère affectant les membres, le tronc et l'abdomen, ainsi que par une accumulation faciocervicale de tissu adipeux. Les autres manifestations comprennent le diabète, l'acanthosis nigricans, la stéatose hépatique et l'hypertriglycéridémie, ainsi que de faibles taux sériques de leptine et d'adiponectine. Des troubles sévères du rythme et de la conduction cardiaques ont également été rapportés."},"de":{"name":"Laminopathie, lipodystrophe, schwere, autosomal-dominante","definition":"Eine seltene familiäre Form der Lipodystrophie, die durch eine schwere partielle Lipoatrophie der Gliedmaßen, des Rumpfes und des Abdomens sowie eine faziozervikale Fettansammlung gekennzeichnet ist. Weitere Symptome sind Diabetes, Acanthosis nigricans, Lebersteatose und Hypertriglyceridämie sowie niedrige Leptin- und Adiponektinwerte im Serum. Es wurde auch über schwere Herzrhythmus- und Reizleitungsstörungen berichtet."},"es":{"name":"Laminopatía lipodistrófica grave autosómica semidominante","definition":"Es una lipodistrofia parcial familiar poco frecuente caracterizada por lipoatrofia parcial grave que afecta a las extremidades, al tronco y al abdomen, acompañado de un acúmulo de grasa faciocervical. Otras manifestaciones adicionales incluyen diabetes, acantosis nigricans, esteatosis hepática e hipertrigliceridemia, así como niveles bajos de leptina y adiponectina en suero. También se ha descrito graves alteraciones del ritmo y la conducción cardíacos."},"it":{"name":"Laminopatia lipodistrofica grave autosomica semi-dominante"},"nl":{"name":"Autosomaal semidominante ernstige lipodystrofische laminopathie","definition":"Een zeldzame familiale partiële lipodystrofie, gekenmerkt door ernstige partiële lipoatrofie die ledematen, romp en abdomen aantast, in combinatie met faciocervicale accumulatie van vet. Bijkomende manifestaties zijn onder meer diabetes, acanthosis nigricans, leversteatose, en hypertriglyceridemie, alsook lage gehaltes van leptine en adiponectine in serum. Ernstige hartritmestoornissen en hartgeleidingsstoornissen werden ook reeds gerapporteerd."},"pt":{"name":"Laminopatia lipodistrófica grave autossómica semi-dominante"},"pl":{"name":"Autosomalna semidominująca ciężka laminopatia lipodystroficzna"},"cs":{"name":"Autozomálně-semidominantní těžká lipodystrofická laminopatie"},"uk":{"name":"Аутосомна напівдомінантна важка ліподистрофічна ламінопатія","definition":"A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported."},"zh":{"name":"常染色体半显性重度脂肪营养不良性椎板病"},"tr":{"name":"Otozomal yarı-dominant ağır lipodistrofik laminopati"}},"xrefs":[{"source":"ICD-10","code":"E88.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A44","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017230","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680783","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":98306,"name":"Familial partial lipodystrophy","classifications":[156,187,193]},{"orpha":300763,"name":"Laminopathy with lipodystrophy","classifications":[156]},{"orpha":181368,"name":"Rare insulin-resistance syndrome","classifications":[156,193]}],"children":[],"genes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21346069[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Semi-dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"21346069[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-19","source":"21346069[PMID]_25819867[PMID]_20421363[PMID]","terms":[{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003717","label":"Minimal subcutaneous fat","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000418","label":"Narrow nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003758","label":"Reduced subcutaneous adipose tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000991","label":"Xanthomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004943","label":"Accelerated atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001870","label":"Acroosteolysis of distal phalanges (feet)","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030685","label":"Decreased adiponectin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003292","label":"Decreased serum leptin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000468","label":"Increased adipose tissue around the neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000287","label":"Increased facial adipose tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008993","label":"Increased intraabdominal fat","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003635","label":"Loss of subcutaneous adipose tissue in limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008968","label":"Muscle hypertrophy of the lower extremities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009771","label":"Osteolytic defects of the phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004416","label":"Precocious atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040266","label":"Proximal upper limb muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005150","label":"Abnormal atrioventricular conduction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100607","label":"Dysmenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005115","label":"Supraventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004308","label":"Ventricular arrhythmia","frequency":"Very rare (<4-1%)","criteria":null}]}}