{"orpha":90153,"name":"Mandibuloacral dysplasia with type A lipodystrophy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MADA"],"definition":null,"note":"This disease is described under Mandibuloacral dysplasia","url":"https://raremap.alftech.space/d/ORPHA-90153/","orphanet_url":"https://www.orpha.net/en/disease/detail/90153","names":{"fr":{"name":"Dysplasie mandibulo-acrale avec lipodystrophie de type A","synonyms":["MADA"]},"de":{"name":"Mandibuloakrale Dysplasie mit Lipodystrophie Typ A","synonyms":["MADA"]},"es":{"name":"Displasia mandibuloacral con lipodistrofia tipo A","synonyms":["MADA"]},"it":{"name":"Displasia mandiboloacrale con lipodistrofia tipo A","synonyms":["MADA"]},"nl":{"name":"Mandibuloacrale dysplasie met lipodystrofie type A","synonyms":["MADA"]},"pt":{"name":"Displasia mandibuloacral com lipodistrofia tipo A","synonyms":["MADA"]},"pl":{"name":"Dysplazja żuchwowo-obojczykowa z lipodystrofią typu A","synonyms":["MADA"]},"cs":{"name":"Mandibuloakrální dysplázie s lipodystrofií typu A","synonyms":["MADA"]},"uk":{"name":"Мандибулоакральна дисплазія з ліподистрофією, тип А","synonyms":["МАДА"]},"zh":{"name":"下颌末端发育不良伴脂肪代谢障碍A型"},"tr":{"name":"Tip A lipodistrofi ile seyreden mandibuloakral displazi"}},"xrefs":[{"source":"OMIM","code":"248370","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.6Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1756335062"},{"source":"MONDO","code":"0009557","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535705","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5399785","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3374","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":300763,"name":"Laminopathy with lipodystrophy","classifications":[156]},{"orpha":2457,"name":"Mandibuloacral dysplasia","classifications":[147,156,187,189,193,199]}],"children":[],"genes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12075506[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001870","label":"Acroosteolysis of distal phalanges (feet)","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006710","label":"Aplasia/Hypoplasia of the clavicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009839","label":"Osteolytic defects of the distal phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100783","label":"Breast aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Occasional (29-5%)","criteria":null}]}}