{"orpha":71526,"name":"Obesity due to pro-opiomelanocortin deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["POMC deficiency"],"definition":"Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71526/","orphanet_url":"https://www.orpha.net/en/disease/detail/71526","names":{"fr":{"name":"Obésité par déficit en pro-opiomélanocortine","synonyms":["Déficit en POMC"],"definition":"Le déficit en pro-opiomélanocortine (POMC) est une forme d'obésité monogénique entraînant une obésité à début précoce, une insuffisance surrénale, des cheveux roux et une peau pâle."},"de":{"name":"Adipositas durch Proopiomelanocortin-Mangel","definition":"Der Pro-Opiomelanocortin-Mangel ist eine Form von monogen vererbter Adipositas mit schwerer Ausprägung und frühem Beginn. Die Patienten haben eine Nebenniereninsuffizienz, rote Haare und blasse Haut."},"es":{"name":"Obesidad por deficiencia de pro-opiomelanocortin","definition":"La deficiencia de proopiomelanocortina (POMC) es una forma de obesidad monogénica que provoca obesidad grave de aparición temprana, insuficiencia suprarrenal, pelo rojo y piel pálida."},"it":{"name":"Obesità da deficit di pro-opiomelanocortina","synonyms":["Deficit di POMC"]},"nl":{"name":"Obesitas door deficiëntie van pro-opiomelanocortine","synonyms":["POMC-deficiëntie"],"definition":"Deficiëntie van pro-opiomelanocortine (POMC) is een vorm van monogene obesitas die resulteert in ernstige, vroeg optredende obesitas, bijnierinsufficiëntie, rood haar, en bleke huid."},"pt":{"name":"Obesidade por deficiência de pro-opiomelanocortina","synonyms":["Deficiência de POMC"]},"pl":{"name":"Otyłość spowodowana niedoborem proopiomelanokortyny","synonyms":["Niedobór POMC"]},"cs":{"name":"Obezita způsobená deficitem proopiomelanokortinu","synonyms":["Deficit POMC"]},"uk":{"name":"Ожиріння через дефіцит проопіомеланокортину","synonyms":["Дефіцит POMC"],"definition":"Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin."},"zh":{"name":"前阿黑皮素缺乏所致肥胖症","synonyms":["POMC缺乏"]},"tr":{"name":"Pro-opiomelanokortin eksikliğine bağlı obezite","synonyms":["POMC eksikliği"]}},"xrefs":[{"source":"OMIM","code":"601665","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609734","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E66.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5B81.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"530374033"},{"source":"MONDO","code":"0012335","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565726","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857854","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10823","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083937","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":179490,"name":"Obesity due to congenital leptin resistance","classifications":[156,193]}],"children":[],"genes":[{"symbol":"POMC","name":"proopiomelanocortin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24354022[PMID]","hgnc":"9201","ensembl":"ENSG00000115138","omim":"176830","loci":["2p23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"16150380[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":"2017-03-01","source":"27468060[PMID]_16936203[PMID]_14557433[PMID]_9620771[PMID]_9771698[PMID]_15703762[PMID]","terms":[{"hpo":"HP:0009126","label":"Increased adipose tissue","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011734","label":"Central adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008915","label":"Childhood-onset truncal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002297","label":"Red hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008213","label":"Gonadotropin deficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002173","label":"Hypoglycemic seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Occasional (29-5%)","criteria":null}]}}