Human Phenotype Ontology 
Grandparent Node:
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Abnormal glucose homeostasis (HP:0011014)help
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Diabetes mellitus (HP:0000819)help
..Starting node
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Maturity-onset diabetes of the young (HP:0004904)help
Term ID: 4904
Name: Maturity-onset diabetes of the young
Synonym: Maturity onset diabetes of the young; MODY
Definition: The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells.
Comments:
Reference: HP:0004904
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDiabetic ketoacidosis (HP:0001953) help
..expandInsulin-resistant diabetes mellitus (HP:0000831) help
..expandMaternal diabetes (HP:0009800) help
..expandType I diabetes mellitus (HP:0100651) help
..expandType II diabetes mellitus (HP:0005978) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004904HP:0004904Maturity-onset diabetes of the young0ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent245
HP:0004904HP:0004904Maturity-onset diabetes of the young0APPL1 CL E G H2606024035OMIM:616511Maturity-onset diabetes of the young, type 14.2
HP:0004904HP:0004904Maturity-onset diabetes of the young0BLK CL E G H6401057OMIM:613375Maturity-onset diabetes of the young, type 11.75
HP:0004904HP:0004904Maturity-onset diabetes of the young0CEL CL E G H10561848OMIM:609812Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction.25
HP:0004904HP:0004904Maturity-onset diabetes of the young0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0004904HP:0004904Maturity-onset diabetes of the young0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0004904HP:0004904Maturity-onset diabetes of the young0GCK CL E G H26454195OMIM:125851Maturity-onset diabetes of the young, type II.237
HP:0004904HP:0004904Maturity-onset diabetes of the young0HNF1A CL E G H692711621OMIM:142330Hepatic adenomas, familial.161
HP:0004904HP:0004904Maturity-onset diabetes of the young0HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040282 - Frequent161
HP:0004904HP:0004904Maturity-onset diabetes of the young0HNF1A CL E G H692711621OMIM:600496Maturity-onset diabetes of the young, type III.161
HP:0004904HP:0004904Maturity-onset diabetes of the young0HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome90
HP:0004904HP:0004904Maturity-onset diabetes of the young0HNF4A CL E G H31725024OMIM:125850Maturity-onset diabetes of the young, type 1.138
HP:0004904HP:0004904Maturity-onset diabetes of the young0HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent
HP:0004904HP:0004904Maturity-onset diabetes of the young0INS CL E G H36306081OMIM:613370MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY1062
HP:0004904HP:0004904Maturity-onset diabetes of the young0KCNJ11 CL E G H37676257OMIM:616329Maturity-onset diabetes of the young, type 13.127
HP:0004904HP:0004904Maturity-onset diabetes of the young0KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent127
HP:0004904HP:0004904Maturity-onset diabetes of the young0KLF11 CL E G H846211811OMIM:610508MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY778
HP:0004904HP:0004904Maturity-onset diabetes of the young0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0004904HP:0004904Maturity-onset diabetes of the young0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0004904HP:0004904Maturity-onset diabetes of the young0NEUROD1 CL E G H47607762OMIM:606394MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY632
HP:0004904HP:0004904Maturity-onset diabetes of the young0PAX4 CL E G H50788618OMIM:612225MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY955
HP:0004904HP:0004904Maturity-onset diabetes of the young0PCBD1 CL E G H50928646ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiencyHP:0040284 - Very rare24
HP:0004904HP:0004904Maturity-onset diabetes of the young0PDX1 CL E G H36516107OMIM:606392Maturity-onset diabetes of the young, type 4.30
HP:0004904HP:0004904Maturity-onset diabetes of the young0PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent
HP:0004904HP:0004904Maturity-onset diabetes of the young0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0004904HP:0004904Maturity-onset diabetes of the young0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional
HP:0004904HP:0004904Maturity-onset diabetes of the young0ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent30


Genes (21) :ABCC8 APPL1 BLK CEL DLK1 GCK HNF1A HNF1B HNF4A HYMAI INS KCNJ11 KLF11 MEG3 NEUROD1 PAX4 PCBD1 PDX1 PLAGL1 RTL1 ZFP57

Diseases (19) :ORPHA:99886 OMIM:616511 OMIM:613375 OMIM:609812 ORPHA:96184 ORPHA:254531 OMIM:125851 OMIM:142330 ORPHA:324575 OMIM:600496 OMIM:137920 OMIM:125850 OMIM:613370 OMIM:616329 OMIM:610508 OMIM:606394 OMIM:612225 ORPHA:1578 OMIM:606392
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.