{"orpha":90154,"name":"Mandibuloacral dysplasia with type B lipodystrophy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Mandibuloacral dysplasia","url":"https://raremap.alftech.space/d/ORPHA-90154/","orphanet_url":"https://www.orpha.net/en/disease/detail/90154","names":{"fr":{"name":"Dysplasie mandibulo-acrale avec lipodystrophie de type B"},"de":{"name":"Mandibuloakrale Dysplasie mit Lipodystrophie Typ B"},"es":{"name":"Displasia mandibuloacral con lipodistrofia tipo B"},"it":{"name":"Displasia mandiboloacrale con lipodistrofia tipo B"},"nl":{"name":"Mandibuloacrale dysplasie met type B-lipodystrofie"},"pt":{"name":"Displasia mandibuloacral com lipodistrofia tipo B"},"pl":{"name":"Dysplazja żuchwowo-obojczykowa z lipodystrofią typu B"},"cs":{"name":"Mandibuloakrální dysplázie s lipodystrofií typu B"},"uk":{"name":"Мандибулоакральна дисплазія з ліподистрофією, тип В"},"zh":{"name":"下颌末端发育不良伴脂肪代谢障碍B型"},"tr":{"name":"Tip B lipodistrofi ile seyreden mandibuloakral displazi"}},"xrefs":[{"source":"OMIM","code":"608612","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":"1199517264"},{"source":"MONDO","code":"0012074","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535706","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837756","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9989","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":2457,"name":"Mandibuloacral dysplasia","classifications":[147,156,187,189,193,199]}],"children":[],"genes":[{"symbol":"ZMPSTE24","name":"zinc metallopeptidase STE24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12913070[PMID]_18435794[PMID]","hgnc":"12877","ensembl":"ENSG00000084073","omim":"606480","loci":["1p34.2"]}],"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:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001870","label":"Acroosteolysis of distal phalanges (feet)","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:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","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:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001211","label":"Abnormal fingertip morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003761","label":"Calcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009064","label":"Generalized lipodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null}]}}