{"orpha":1979,"name":"Lipodystrophy due to peptidic growth factors deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency","Hoepffner-Dreyer-Reimers syndrome","Werner-like syndrome due to combined growth factor deficiency"],"definition":"A rare genetic lipodystrophy characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1979/","orphanet_url":"https://www.orpha.net/en/disease/detail/1979","names":{"fr":{"name":"Lipodystrophie par déficit en facteurs de croissance peptidiques","synonyms":["Déficit combiné en insuline, facteur de croissance IGF1, facteur de croissance épidermique EGF","Syndrome de Hoepffner-Dreyer-Reimers","Syndrome de type Werner par déficit en facteurs de croissance"],"definition":"Lipodystrophie génétique rare caractérisée par une perte des couches adipeuses sous-cutanées des membres, une lipodystrophie de la face et du thorax et des anomalies cutanées rappelant la sclérodermie (peau épaissie au niveau des paumes et des plantes des pieds et anomalies de la pigmentation au niveau des membres et du thorax). Les autres signes cliniques sont une contracture articulaire, un poids corporel réduit, un nez en bec d'oiseau et une micrognathie. Un diabète sucré résistant à l'insuline a également été observé chez un des frères."},"de":{"name":"Lipodystrophie durch peptidischen Wachstumsfaktormangel","synonyms":["Hoepffner-Dreyer-Reimers-Syndrom","Kombinierter Mangel an Insulin, IGF1 (insulin-like growth factor 1) und EGF (epidermal growth factor)","Werner-ähnliches Syndrom durch kombinierten Wachstumsfaktormangel"],"definition":"Eine seltene genetisch bedingte Lipodystrophie, die durch den Verlust subkutaner Fettschichten an den Gliedmaßen, Lipodystrophie im Gesicht und am Rumpf sowie sklerodermieähnliche Hautveränderungen (verdickte Haut an Handflächen und Fußsohlen sowie Hautpigmentveränderungen an den Gliedmaßen und am Rumpf) gekennzeichnet ist. Weitere klinische Anzeichen sind Gelenkkontrakturen, vermindertes relatives Körpergewicht, vogelähnliches Gesicht mit Schnabelnase, Mikrognathie und insulinresistenter Diabetes mellitus."},"es":{"name":"Lipodistrofia por deficiencia de factores de crecimiento peptídicos","synonyms":["Deficiencia combinada de insulina, factor de crecimiento insulímico tipo 1 (IGF1) y factor de crecimiento epidérmico (EGF)","Síndrome de Hoepffner-Dreyer-Reimers","Síndrome tipo Werner por deficiencia combinada de factores de crecimiento"],"definition":"Es una lipodistrofia genética poco frecuente caracterizada por la pérdida de capas de grasa subcutánea en las extremidades, lipodistrofia en la cara y el tronco y alteraciones cutáneas similares a la esclerodermia (engrosamiento de la piel palmoplantar y cambios en la pigmentación de la piel en las extremidades y el tronco). Otros signos clínicos adicionales incluyen contracturas articulares, reducción del peso corporal relativo, perfil facial ''de pájaro'' (con nariz con forma de pico), micrognatia y diabetes mellitus resistente a la insulina."},"it":{"name":"Lipodistrofia da deficit dei fattori di crescita peptidici","synonyms":["Deficit combinato dell'insulina, del fattore di crescita epidermico (EGF) e del fattore 1 di crescita insulino-simile (IGF1)","Sindrome Werner-simile da deficit combinato dei fattori di crescita","Sindrome di Hoepffner-Dreyer-Reimers"]},"nl":{"name":"Lipodystrofie door deficiëntie van peptidische groeifactoren","synonyms":["Gecombineerde deficiëntie van insuline, insulineachtige groeifactor 1 (IGF1) en epidermale groeifactor (EGF)","Syndroom van Hoepffner-Dreyer-Reimers","Werner-achtig syndroom door gecombineerde deficiëntie van groeifactoren"],"definition":"Een zeldzame, genetische lipodystrofie, gekarakteriseerd door verlies van subcutane vetlagen van ledematen, lipodystrofie van aangezicht en romp, en sclerodermie-achtige huidaandoeningen (verdikte huid op handpalmen en voetzolen, en verandering van huidpigmentatie van ledematen en romp). Bijkomende klinische tekenen zijn onder meer gewrichtscontracturen, verminderd relatief lichaamsgewicht, vogelachtig gelaat met snavelvormige neus, micrognathie, en insulineresistente diabetes mellitus."},"pt":{"name":"Lipodistrofia devida a deficiência de fatores de crecimento peptídicos","synonyms":["Síndrome Hoepffner-Dreyer-Reimers"],"definition":"Lipodistrofia genética rara, caracterizada pela perda de camadas subcutâneas de gordura nos membros, lipodistrofia na face e no tronco e doenças dermatológicas escleroderma-like (pele espessada nas palmas e plantas dos pés e mãos e alterações pigmentares dos membros e do tronco). Sinais clínicos adicionais incluem contraturas articulares, baixo peso relativo, face semelhante a uma ave com nariz bicudo, micrognatia e diabetes mellitus resistente à insulina."},"pl":{"name":"Lipodystrofia z powodu niedoboru peptydowego czynnika wzrostu","synonyms":["Mieszany Niedobór insuliny, insulinopodobnego czynnika wzrostu (IGF1) i czynnika wzrostu naskórka (EGF)","Zespół Hoepffnera, Dreyera i Reimersa","Zespół podobny do zespołu Wernera spowodowany mieszanym niedoborem czynnika wzrostu"]},"cs":{"name":"Lipodystrofie způsobená deficitem peptidových růstových faktorů","synonyms":["Kombinovaný deficit inzulinu, růstového faktoru 1 podobného inzulinu (IGF1) a epidermálního růstového faktoru (EGF)","Hoepffnerův-Dreyerův-Reimersův syndrom","Syndrom podobný Wernerovu způsobený kombinovaným deficitem růstového faktoru","Hoepffner-Dreyer-Reimersův syndrom"]},"uk":{"name":"Ліподистрофія внаслідок дефіциту пептидних факторів росту","synonyms":["Комбінований дефіцит інсуліну, інсуліноподібного фактора росту 1 (IGF1) та епідермального фактора росту (EGF)","Синдром Гепфнера-Дрейєра-Реймерса","Синдром Вернера внаслідок комбінованого дефіциту фактора росту"],"definition":"A rare genetic lipodystrophy characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus."},"zh":{"name":"肽生长因子缺乏所致脂质营养不良","synonyms":["胰岛素、胰岛素样生长因子1（IGF1）和表皮生长因子（EGF）联合缺乏"]},"tr":{"name":"Peptit büyüme faktörleri eksikliğine bağlı lipodistrofi","synonyms":["Hoepffner-Dreyer-Reimers sendromu","Kombine büyüme faktörü eksikliğine bağlı Werner benzeri sendrom","Kombine insülin, insülin benzeri büyüme faktörü 1 (IGF1) ve epidermal büyüme faktörü (EGF) eksikliği"]}},"xrefs":[{"source":"OMIM","code":"233805","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.6Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1235390174"},{"source":"MONDO","code":"0009312","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931279","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":98305,"name":"Genetic lipodystrophy","classifications":[156,187,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"2477323[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2477323[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","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:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003758","label":"Reduced subcutaneous adipose tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010980","label":"Hyperlipoproteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null}]}}