{"orpha":71529,"name":"Obesity due to melanocortin 4 receptor deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MC4R deficiency"],"definition":"Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71529/","orphanet_url":"https://www.orpha.net/en/disease/detail/71529","names":{"fr":{"name":"Obésité par déficit du récepteur de la mélanocortine 4","synonyms":["Déficit en MC4R"],"definition":"Le déficit en récepteur de la mélanocortine 4 (MC4R) est la forme la plus fréquente d'obésité monogénique identifiée à ce jour. Le déficit en MC4R est caractérisé par une obésité sévère, une augmentation de la masse corporelle maigre et de la densité osseuse, une augmentation de la croissance linéaire dans la petite enfance, une hyperphagie débutant dans la première année de vie et une hyperinsulinémie sévère. La fonction reproductive est préservée."},"de":{"name":"Adipositas durch Melanokortin-4 Rezeptor-Mangel","synonyms":["MC4R-Mangel"],"definition":"Der Melanocortin-4-Rezeptor (MC4R)-Mangel ist die häufigste bisher identifizierte Ursache einer monogen vererbten Adipositas. Der MC4R-Mangel ist gekennzeichnet durch eine schwere Adipositas, eine erhöhte Magermasse (lean body mass), erhöhte Knochenmineraldichte, erhöhte Wachstums-Geschwindigkeit in der frühen Kindheit, im ersten Lebensjahr einsetzende Hyperphagie und schwere Hyperinsulinämie bei erhaltener Fortpflanzungsfunktion."},"es":{"name":"Obesidad por deficiencia del receptor de melanocortina-4","synonyms":["Deficiencia de MC4R"],"definition":"La deficiencia en el receptor de la melanocortina 4 (MC4R) es la forma más común de obesidad monogénica identificada hasta ahora. La deficiencia de MC4R se caracteriza por: obesidad grave, con incremento en la masa corporal magra y la densidad mineral ósea, aumento en el crecimiento lineal en la primera infancia, hiperfagia a partir del primer año de vida e hiperinsulinemia grave, con conservación de la función reproductora."},"it":{"name":"Obesità da deficit del recettore della melanocortina 4","synonyms":["Deficit di MC4R"]},"nl":{"name":"Obesitas door deficiëntie van melanocortine 4-receptor","synonyms":["MC4R-deficiëntie"],"definition":"Deficiëntie van melanocortine 4-receptor (MC4R) is de meest gangbare vorm van monogene obesitas die tot op heden werd geïdentificeerd. MC4R-deficiëntie wordt gekenmerkt door ernstige obesitas, toename van vetvrije lichaamsmassa en botmineraaldichtheid, verhoogde lineaire groei in de vroege kindertijd, hyperfagie die aanvangt in het eerste levensjaar, en ernstige hyperinsulinemie, in aanwezigheid van gehandhaafde voortplantingsfunctie."},"pt":{"name":"Obesidade por deficiência de recetores da melacortina-4","synonyms":["Deficiência de MC4R"]},"pl":{"name":"Otyłość spowodowana niedoborem receptora melanokortyny 4","synonyms":["Niedobór MC4R"]},"cs":{"name":"Obezita způsobená deficitem receptoru pro melanokortin 4","synonyms":["Deficit MC4R"]},"uk":{"name":"Ожиріння через дефіцит рецепторів меланокортину 4","synonyms":["Дефіцит MC4R"],"definition":"Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function."},"zh":{"name":"黑皮素4受体缺乏所致肥胖症","synonyms":["MC4R缺乏"]},"tr":{"name":"Melanokortin 4 reseptör eksikliğine bağlı obezite","synonyms":["MC4R eksikliği"]}},"xrefs":[{"source":"OMIM","code":"601665","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618406","qualifier":"NTBT","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":"132077929"},{"source":"MONDO","code":"0019115","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273958","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":"MC4R","name":"melanocortin 4 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10903343[PMID]","hgnc":"6932","ensembl":"ENSG00000166603","omim":"155541","loci":["18q21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":50.0,"area":"France","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-22","source":"9771698[PMID]_15703762[PMID]_11443223[PMID]_14764818[PMID]_9771698[PMID]_15486053[PMID]_15126516[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:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008915","label":"Childhood-onset truncal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}