MODY
MCID: MTR004
MIFTS: 65

Maturity-Onset Diabetes of the Young (MODY) malady

Genetic diseases, Rare diseases, Endocrine diseases, Liver diseases, Nephrological diseases, Fetal diseases, Neuronal diseases categories
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Summaries for Maturity-Onset Diabetes of the Young

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8Disease Ontology, 65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Maturity onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes caused... more...

MalaCards: Maturity-Onset Diabetes of the Young, also known as MODY, is related to hypoglycemia and diabetes mellitus. An important gene associated with Maturity-Onset Diabetes of the Young is GCK (glucokinase (hexokinase 4)), and among its related pathways are Regulation of Glucokinase by Glucokinase Regulatory Protein and FOXA1 transcription factor network. The drugs acetohexamide and chlorpropamide and the compounds mannitol-1-phosphate and mannoheptulose have been mentioned in the context of this disorder. Affiliated tissues include testes, kidney and liver, and related mouse phenotypes are adipose tissue and renal/urinary system.

Disease Ontology:8 A genetic disease that has material basis in mutations in the mody genes disrupting insulin production.

Description from OMIM:47 606392, 612225, 137920, 613375, 613370 125851, 609812, 125850, 610508, 606394, 600496 more

Aliases & Classifications for Maturity-Onset Diabetes of the Young

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8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 10DISEASES, 62UMLS, 47OMIM
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Classifications:



Aliases & Descriptions:

maturity-onset diabetes of the young 8 43 20 10
mody 8 43
maturity onset diabetes mellitus in young 62
diabetes mellitus, non-insulin-dependent 62
mason-type diabetes 8
mason type diabetes 43


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Disease Ontology8 DOID:0050524

Related Diseases for Maturity-Onset Diabetes of the Young

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17GeneCards, 18GeneDecks
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Diseases in the Maturity-Onset Diabetes of the Young, Type 1 family:

maturity-onset diabetes of the young Maturity-Onset Diabetes of the Young, Type 2
Maturity-Onset Diabetes of the Young, Type 3 Maturity-Onset Diabetes of the Young, Type 4
Maturity-Onset Diabetes of the Young, Type 5 Maturity-Onset Diabetes of the Young, Type 6
Maturity-Onset Diabetes of the Young, Type 7 Maturity-Onset Diabetes of the Young, Type 8
Maturity-Onset Diabetes of the Young, Type 9 Maturity-Onset Diabetes of the Young, Type 11
Maturity-Onset Diabetes of the Young, Type 10

Diseases related to Maturity-Onset Diabetes of the Young via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia31.0INS, GCK, GCKR
2diabetes mellitus31.0INS, ISL1, HNF1A, PDX1, GCKR, GCK
3hyperinsulinemic hypoglycemia30.9GCK, INS
4type 1 diabetes mellitus30.7HNF1A, INS, GCK
5insulin resistance30.6HNF1A, FOXA2, GCK, INS
6permanent neonatal diabetes mellitus30.5GCK, INS
7hyperinsulinism30.5INS, GCK
8gestational diabetes30.5GCK, HNF1A, INS
9type 2 diabetes mellitus30.5ISL1, INS, GCK, GCKR, PDX1, HNF1A
10obesity30.4INS, ISL1, FOXA2, HNF1A, GCKR, GCK
11hyperglycemia30.3GCK, INS, HNF1A, PDX1, GCKR
12neonatal diabetes mellitus30.2INS, GCK, PDX1
13pancreatic agenesis30.1PDX1
14maturity-onset diabetes of the young, type 210.9
15maturity-onset diabetes of the young, type 310.9
16pancreatitis10.8
17maturity-onset diabetes of the young, type 110.8
18maturity-onset diabetes of the young, type 510.8
19maturity-onset diabetes of the young, type 810.8
20maturity-onset diabetes of the young, type 610.7
21maturity-onset diabetes of the young, type 710.7
22maturity-onset diabetes of the young, type 910.7
23maturity-onset diabetes of the young, type 410.7
24hepatitis10.7
25maturity-onset diabetes of the young type1010.6
26maturity-onset diabetes of the young type1110.5
27maturity-onset diabetes of the young, type 1110.5
28maturity-onset diabetes of the young, type 1010.5
29diabetic nephropathy10.3
30diabetic ketoacidosis10.3
31duodenitis10.3
32necrobiosis lipoidica10.3
33granuloma annulare10.3
34proliferative diabetic retinopathy10.3
35colorectal cancer10.3
36diabetic retinopathy10.3
37thyroiditis10.3
38monogenic diabetes10.3
39transient neonatal diabetes mellitus10.3
40renal dysplasia10.3
41familial hyperinsulinism10.1GCK
42hyperuricemia10.0INS, GCK
43hypercholesterolemia10.0INS, PDX1
44glucose intolerance10.0INS, GCK, HNF1A
45insulinoma10.0INS, HNF1A, PDX1, GCK
46greig cephalopolysyndactyly syndrome10.0
47pancreatic cancer9.9INS, KLF11, PDX1

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young:



Diseases related to maturity-onset diabetes of the young

Symptoms for Maturity-Onset Diabetes of the Young

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47OMIM
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Clinical features from OMIM:

606392, 612225, 137920, 613375, 613370, 125851, 609812, 125850, 610508, 606394 600496 more

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Genetic Tests for Maturity-Onset Diabetes of the Young

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20GeneTests
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Genetic tests related to Maturity-Onset Diabetes of the Young:

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Multi-Gene Panels20

Anatomical Context for Maturity-Onset Diabetes of the Young

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33MalaCards
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MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young:

33
Testes, Kidney, Liver, Pancreas, Thyroid, Uterus

Animal Models for Maturity-Onset Diabetes of the Young or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young:

37 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9FOXA2, INS, HNF1A
2MP:00053678.9INS, HNF1A, PDX1, GCK
3MP:00053708.4FOXA2, INS, HNF1A, PDX1, GCK
4MP:00030128.3PDX1, INS, ISL1, HNF1A
5MP:00053698.3ISL1, INS, HNF1A, PDX1
6MP:00053817.9HNF1A, FOXA2, ISL1, INS, PDX1
7MP:00107717.9HNF1A, ISL1, FOXA2, PDX1, INS
8MP:00028737.9PDX1, FOXA2, ISL1, INS, KLF11
9MP:00053907.8HNF1A, FOXA2, INS, ISL1
10MP:00053767.8INS, GCK, GCKR, PDX1, HNF1A, FOXA2
11MP:00053797.6FOXA2, INS, ISL1, HNF1A, PDX1, GCK
12MP:00053847.5PDX1, HNF1A, FOXA2, INS, ISL1
13MP:00053787.5ISL1, FOXA2, HNF1A, PDX1, GCK, INS
14MP:00107687.4PDX1, GCK, ISL1, HNF1A, FOXA2, INS

Publications for Maturity-Onset Diabetes of the Young

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52PubMed
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Articles related to Maturity-Onset Diabetes of the Young:

(show top 50)    (show all 251)
idTitleAuthorsYear
1
Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. (23771925)
2013
2
Exocrine pancreatic function in hepatocyte nuclear factor 1I^-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas. (23600988)
2013
3
HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response. (24299156)
2013
4
Should the negativity for islet cell autoantibodies be used in a prescreening for genetic testing in maturity-onset diabetes of the young? The case of autoimmunity-associated destruction of pancreatic I^-cells in a family of HNF1A-MODY subjects. (23548576)
2013
5
Metabolic profiling in Maturity-onset diabetes of the young (MODY) and young onset type 2 diabetes fails to detect robust urinary biomarkers. (22859960)
2012
6
A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5). (23926411)
2012
7
A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young. (21263211)
2011
8
Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene. (21677039)
2011
9
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. (21395678)
2011
10
A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2). (23926378)
2010
11
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. (19667185)
2009
12
Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3. (17989309)
2008
13
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. (17828387)
2007
14
Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5. (17440011)
2007
15
Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations. (17337496)
2007
16
Improved prandial glucose control with lower risk of hypoglycemia with nateglinide than with glibenclamide in patients with maturity-onset diabetes of the young type 3. (16443858)
2006
17
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. (16731834)
2006
18
Molecular diagnosis on indication of maturity onset diabetes of the young; results from 184 patients]. (15693590)
2005
19
Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families. (15001650)
2004
20
The G115S mutation associated with maturity-onset diabetes of the young impairs hepatocyte nuclear factor 4alpha activities and introduces a PKA phosphorylation site in its DNA-binding domain. (15233628)
2004
21
Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. (12955723)
2003
22
Regulation of pancreatic beta-cell function by the HNF transcription network: lessons from maturity-onset diabetes of the young (MODY). (14614204)
2003
23
The role of transcription factors in maturity-onset diabetes of the young. (12359128)
2002
24
Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young. (11485019)
2001
25
Prevalence of maturity-onset diabetes of the young mutations in Brazilian families with autosomal-dominant early-onset type 2 diabetes. (11315851)
2001
26
Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. (11554773)
2001
27
Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families. (10754480)
2000
28
Diagnosis of maturity-onset diabetes of the young in the pediatric diabetes clinic. (11202217)
2000
29
Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter. (10967107)
2000
30
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. (11058894)
2000
31
R127W in HNF4alpha is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family. (11043869)
2000
32
Impaired insulin secretion and increased insulin sensitivity in familial maturity-onset diabetes of the young 4 (insulin promoter factor 1 gene). (11078452)
2000
33
Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young. (10102714)
1999
34
Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia. (9713013)
1998
35
Mutations in the genes of the HNF-family cause maturity-onset diabetes of the young (MODY)]. (9780731)
1998
36
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. (9075818)
1997
37
A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. (9439666)
1997
38
Maturity-onset diabetes of the young (MODY), MODY genes and non-insulin-dependent diabetes mellitus. (9162575)
1997
39
Diabetic lipemia with maturity-onset diabetes of the young. (9260775)
1997
40
The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism. (9371825)
1997
41
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity- onset diabetes of the young (MODY1). (8945471)
1996
42
Maturity onset diabetes of the young (MODY). (8894490)
1996
43
Maturity onset diabetes of the young. (11256912)
1995
44
Administration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity-onset diabetes of the young. (8404429)
1993
45
Mapping diabetes-susceptibility genes. Lessons learned from search for DNA marker for maturity-onset diabetes of the young. (1607066)
1992
46
Maturity onset diabetes of the young in a Saudi child: Case report and review of the literature. (17590827)
1991
47
Insulin resistance in maturity onset diabetes of the young. (3301443)
1987
48
HLA and maturity onset diabetes of the young. (6884609)
1983
49
Insulin binding and insulin action in fibroblasts from patients with maturity-onset diabetes of the young. (7028547)
1981
50
Diabetic nephropathy in a patient with maturity-onset diabetes of the young. (7235789)
1981

Variations for Maturity-Onset Diabetes of the Young

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Expression for genes affiliated with Maturity-Onset Diabetes of the Young

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Maturity-Onset Diabetes of the Young

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young.

Pathways for genes affiliated with Maturity-Onset Diabetes of the Young

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 53QIAGEN, 5Cell Signaling Technology, 51PharmGKB
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Pathways related to Maturity-Onset Diabetes of the Young according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6GCK, GCKR
2
Show member pathways
FOXA transcription factor networks38
9.3FOXA2, INS
3
Show member pathways
9.2GCK, INS, PDX1
4
Show member pathways
9.1INS, ISL1
59.1HNF1A, INS, PDX1
69.0ISL1, FOXA2
7
Show member pathways
9.0FOXA2, GCK, INS
88.5ISL1, FOXA2, INS
98.5INS, PDX1, HNF1A, FOXA2
10
Show member pathways
8.1PDX1, GCK, FOXA2, INS, HNF1A
118.1PDX1, GCK, HNF1A, FOXA2, INS
12
Show member pathways
8.1FOXA2, GCK, PDX1, HNF1A, INS
13
Show member pathways
7.9HNF1A, INS, PDX1, ISL1, GCK

Compounds for genes affiliated with Maturity-Onset Diabetes of the Young

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45Novoseek, 24HMDB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB
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Compounds related to Maturity-Onset Diabetes of the Young according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1mannitol-1-phosphate4510.0GCK, GCKR
2mannoheptulose4510.0GCK, GCKR
3chromium picolinate4510.0GCK, INS
4fructose 1-phosphate45 2411.0GCKR, GCK
5phosphoenolpyruvate45 1111.0HNF1A, GCK
6fructose-6-phosphate45 1111.0GCKR, GCK
7Alpha-D-Glucose249.9GCK, GCKR
8D-Glucose249.9GCKR, GCK
9Beta-D-Glucose24 1110.9GCK, GCKR
10diazoxide45 61 29 1112.9INS, GCK
11aicar45 24 1111.9INS, GCK
12leptomycin b45 6110.9GCK, GCKR
132-deoxyglucose45 1110.8INS, GCK
14metformin45 51 1111.8GCK, INS
15nicotinamide45 1110.8PDX1, INS
16n-acetylglucosamine459.7GCKR, GCK
17glucose 6-phosphate45 2410.7GCK, GCKR
18pyruvate459.6HNF1A, PDX1, GCK
19tolbutamide45 29 51 1112.6INS, HNF1A, GCK
20uric acid45 2410.6GCKR, INS
21preproinsulin459.6PDX1, INS, GCK
22i-app459.6INS, PDX1, GCK
23incretin459.5INS, PDX1, GCK
24streptozotocin459.5GCK, PDX1, INS
25creatinine459.4HNF1A, INS, GCK
26mannitol45 1110.3GCK, GCKR
27proglucagon459.2PDX1, ISL1, GCK
28cholesterol45 29 24 1112.2GCK, HNF1A, INS
29dexamethasone45 51 29 1112.2HNF1A, INS, GCK
30oligonucleotide459.2GCK, HNF1A, PDX1
31sulfonylurea459.2GCK, PDX1, HNF1A, INS
32lipid458.9GCK, INS, HNF1A, GCKR
33katp458.9GCK, PDX1, INS, FOXA2
34fatty acid458.9GCK, INS, FOXA2, HNF1A
35glycogen45 249.8GCK, INS, FOXA2, GCKR
36c-peptide458.5INS, FOXA2, GCK, PDX1, HNF1A
37glucose456.8PDX1, INS, ISL1, FOXA2, KLF11, GCKR

GO Terms for genes affiliated with Maturity-Onset Diabetes of the Young

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16Gene Ontology
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Biological processes related to Maturity-Onset Diabetes of the Young according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1detection of glucoseGO:05159410.0GCK, PDX1
2negative regulation of gluconeogenesisGO:0457219.9INS, GCK
3cellular glucose homeostasisGO:0016789.9GCKR, GCK
4positive regulation of glycolytic processGO:0458219.9GCK, INS
5positive regulation of glycogen biosynthetic processGO:0457259.8GCK, INS
6regulation of glucose transportGO:0108279.8GCKR, GCK
7insulin secretionGO:0300739.8PDX1, HNF1A
8hexose transportGO:0086459.7GCKR, GCK
9negative regulation of glucokinase activityGO:0331329.6GCKR, FOXA2
10glucose metabolic processGO:0060069.5INS, PDX1
11glucose transportGO:0157589.4GCK, GCKR, INS
12positive regulation of DNA bindingGO:0433889.4PDX1, ISL1
13regulation of insulin secretionGO:0507969.3GCK, INS
14neuron fate specificationGO:0486659.3FOXA2, ISL1
15positive regulation of insulin secretionGO:0320249.2PDX1, ISL1, GCK
16negative regulation of neuron differentiationGO:0456659.1ISL1, FOXA2
17transcription from RNA polymerase II promoterGO:0063669.0KLF11, FOXA2, PDX1
18endocrine pancreas developmentGO:0310188.9GCK, INS, FOXA2, PDX1
19positive regulation of cell proliferationGO:0082848.6ISL1, PDX1, INS
20negative regulation of transcription from RNA polymerase II promoterGO:0001228.5PDX1, KLF11, ISL1, FOXA2
21glucose homeostasisGO:0425938.5GCK, FOXA2, INS, HNF1A, PDX1
22positive regulation of transcription from RNA polymerase II promoterGO:0459448.4FOXA2, PDX1, HNF1A, ISL1

Molecular functions related to Maturity-Onset Diabetes of the Young according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.1KLF11, HNF1A, FOXA2
2sequence-specific DNA binding transcription factor activityGO:0037007.5KLF11, PDX1, HNF1A, FOXA2, ISL1

Products for genes affiliated with Maturity-Onset Diabetes of the Young

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Sources for Maturity-Onset Diabetes of the Young

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet