{"orpha":552,"name":"MODY","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Maturity-onset diabetes of the young"],"definition":"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-552/","orphanet_url":"https://www.orpha.net/en/disease/detail/552","names":{"fr":{"name":"MODY","synonyms":["Diabète juvénile"],"definition":"Forme familiale rare, cliniquement et génétiquement hétérogène de diabète caractérisée par un jeune âge d'apparition (généralement entre 10 et 45&nbsp;ans) avec maintien de la production endogène d'insuline, absence d'auto-immunité des cellules bêta du pancréas, absence d'obésité et de résistance à l'insuline, ainsi que des manifestations extra-pancréatiques dans certains sous-types."},"de":{"name":"MODY"},"es":{"name":"MODY","synonyms":["Diabetes de la edad madura que se presenta en el joven","Diabetes del adulto de inicio juvenil","Diabetes del adulto joven"],"definition":"La diabetes tipo MODY (diabetes del adulto de inicio juvenil) es una forma familiar de diabetes, poco frecuente, clínica y genéticamente heterogénea. Se caracteriza por un inicio en la edad juvenil (por lo general de 10-45 años de edad), con mantenimiento de la producción endógena de insulina, falta de autoinmunidad dirigida contra las células beta pancreáticas, ausencia de obesidad y resistencia a insulina y manifestaciones extra pancreáticas en algunos subtipos."},"it":{"name":"MODY","synonyms":["Diabete giovanile a esordio nella maturità"]},"nl":{"name":"MODY","synonyms":["Ouderdomsdiabetes op jonge leeftijd"],"definition":"MODY (diabetes met aanvang tijdens de adolescentie) is een zeldzame, familiale, klinisch en genetisch heterogene vorm van diabetes die gekenmerkt wordt door een jonge aanvangsleeftijd (algemene leeftijd van 10-45 jaar) met behoud van endogene insulineproductie, gebrek aan pancreatische bètacelauto-immuniteit, afwezigheid van obesitas en insulineresistentie en extrapancreatische manifestaties in sommige subtypes."},"pt":{"name":"Síndrome MODY","synonyms":["Diabetes juvenil com início tardio"]},"pl":{"name":"MODY","synonyms":["Cukrzyca typu MODY"]},"cs":{"name":"MODY","synonyms":["Diabetes dospělého typu objevující se u mladých lidí"]},"uk":{"name":"МОDY","synonyms":["Цукровий діабет у молодих людей, що починається в зрілому віці"],"definition":"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes."},"zh":{"name":"青少年成人起病型糖尿病","synonyms":["年轻的成年发病型糖尿病"]},"tr":{"name":"MODY","synonyms":["Gençlerin erişkin-başlangıçlı diyabeti"]}},"xrefs":[{"source":"OMIM","code":"125850","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"125851","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600496","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606392","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606394","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609812","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610508","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612225","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613370","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613375","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616329","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616511","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E13.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A13.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"419255568"},{"source":"MONDO","code":"0018911","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562772","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342276","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181376,"name":"Rare diabetes mellitus type 2","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]}],"children":[],"genes":[{"symbol":"APPL1","name":"adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26073777[PMID]","hgnc":"24035","ensembl":"ENSG00000157500","omim":"604299","loci":["3p14.3"]},{"symbol":"ABCC8","name":"ATP binding cassette subfamily C member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21989597[PMID]","hgnc":"59","ensembl":"ENSG00000006071","omim":"600509","loci":["11p15.1"]},{"symbol":"BLK","name":"BLK proto-oncogene, Src family tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19667185[PMID]","hgnc":"1057","ensembl":"ENSG00000136573","omim":"191305","loci":["8p23.1"]},{"symbol":"CEL","name":"carboxyl ester lipase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21844708[PMID]","hgnc":"1848","ensembl":"ENSG00000170835","omim":"114840","loci":["9q34.13"]},{"symbol":"GCK","name":"glucokinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21844708[PMID]_22498247[PMID]","hgnc":"4195","ensembl":"ENSG00000106633","omim":"138079","loci":["7p13"]},{"symbol":"HNF1A","name":"HNF1 homeobox A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21844708[PMID]_22498247[PMID]","hgnc":"11621","ensembl":"ENSG00000135100","omim":"142410","loci":["12q24.31"]},{"symbol":"HNF4A","name":"hepatocyte nuclear factor 4 alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21844708[PMID]_22498247[PMID]","hgnc":"5024","ensembl":"ENSG00000101076","omim":"600281","loci":["20q13.12"]},{"symbol":"INS","name":"insulin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22498247[PMID]","hgnc":"6081","ensembl":"ENSG00000254647","omim":"176730","loci":["11p15.5"]},{"symbol":"KCNJ11","name":"potassium inwardly rectifying channel subfamily J member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22701567[PMID]","hgnc":"6257","ensembl":"ENSG00000187486","omim":"600937","loci":["11p15.1"]},{"symbol":"KLF11","name":"KLF transcription factor 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21844708[PMID]","hgnc":"11811","ensembl":"ENSG00000172059","omim":"603301","loci":["2p25.1"]},{"symbol":"NEUROD1","name":"neuronal differentiation 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21844708[PMID]_22498247[PMID]","hgnc":"7762","ensembl":"ENSG00000162992","omim":"601724","loci":["2q31.3"]},{"symbol":"PAX4","name":"paired box 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17426099[PMID]_21263211[PMID]_22521316[PMID]_25041077[PMID]","hgnc":"8618","ensembl":"ENSG00000106331","omim":"167413","loci":["7q32.1"]},{"symbol":"PDX1","name":"pancreatic and duodenal homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21844708[PMID]_22498247[PMID]","hgnc":"6107","ensembl":"ENSG00000139515","omim":"600733","loci":["13q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"United Kingdom","status":"Validated","source":"20499044[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-02","source":"15784703[PMID]_22701567[PMID]_16369531[PMID]_4212169[PMID]_11575290[PMID]_29792621[PMID]","terms":[{"hpo":"HP:0030794","label":"Abnormal C-peptide level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040214","label":"Abnormal circulating insulin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004924","label":"Abnormal oral glucose tolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040217","label":"Elevated hemoglobin A1c","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001952","label":"Glucose intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003074","label":"Hyperglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040216","label":"Hypoinsulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000825","label":"Hyperinsulinemic hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008255","label":"Transient neonatal diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012028","label":"Hepatocellular adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002594","label":"Pancreatic hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001953","label":"Diabetic ketoacidosis","frequency":"Excluded (0%)","criteria":null}]}}