MODY
MCID: MTR004
MIFTS: 70

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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Wikipedia:65 Maturity onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes caused... more...

MalaCards based summary: Maturity-Onset Diabetes of the Young, also known as MODY, is related to hypoglycemia and hyperinsulinemic hypoglycemia. 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.

Descriptions from OMIM:46 125850, 613375, 137920, 600496, 609812 125851, 606391, 606394, 612225, 606392, 613370, 610508 more

Aliases & Classifications for Maturity-Onset Diabetes of the Young

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Maturity-Onset Diabetes of the Young, Aliases & Descriptions:

Name: Maturity-Onset Diabetes of the Young 8 42 20 22 10
Mody 8 42
Maturity Onset Diabetes Mellitus in Young 62
 
Diabetes Mellitus, Non-Insulin-Dependent 62
Mason-Type Diabetes 8
Mason Type Diabetes 42


Classifications:



External Ids:

Disease Ontology8 DOID:0050524

Related Diseases for Maturity-Onset Diabetes of the Young

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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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia31.0INS, GCK, GCKR
2hyperinsulinemic hypoglycemia31.0GCK, INS
3permanent neonatal diabetes mellitus30.8GCK, INS
4type 1 diabetes mellitus30.8HNF1A, INS, GCK
5pancreatic agenesis30.6PDX1
6hyperinsulinism30.6INS, GCK
7gestational diabetes30.5GCK, HNF1A, INS
8insulin resistance30.3HNF1A, FOXA2, GCK, INS
9neonatal diabetes mellitus30.2INS, GCK, PDX1
10diabetes mellitus30.2INS, ISL1, HNF1A, PDX1, GCKR, GCK
11hyperglycemia29.9GCK, INS, HNF1A, PDX1, GCKR
12obesity29.5INS, ISL1, FOXA2, HNF1A, GCKR, GCK
13type 2 diabetes mellitus29.4ISL1, INS, GCK, GCKR, PDX1, HNF1A
14maturity-onset diabetes of the young, type 211.0
15maturity-onset diabetes of the young, type 311.0
16maturity-onset diabetes of the young, type 110.8
17maturity-onset diabetes of the young, type 510.8
18pancreatitis10.8
19maturity-onset diabetes of the young, type 810.8
20maturity-onset diabetes of the young, type 410.7
21maturity-onset diabetes of the young, type 610.7
22maturity-onset diabetes of the young, type 710.7
23maturity-onset diabetes of the young, type 910.7
24hepatitis10.7
25maturity-onset diabetes of the young, type 1110.6
26maturity-onset diabetes of the young, type 1010.6
27duodenitis10.5
28maturity-onset diabetes of the young type1010.5
29maturity-onset diabetes of the young type1110.5
30fanconi renotubular syndrome 4, with maturity-onset diabetes of the young10.5
31familial hyperinsulinism10.4GCK
32colorectal cancer10.3
33diabetic nephropathy10.3
34diabetic retinopathy10.3
35granuloma annulare10.3
36diabetic ketoacidosis10.3
37proliferative diabetic retinopathy10.3
38necrobiosis lipoidica10.3
39kidney disease10.3
40thyroiditis10.3
41monogenic diabetes10.3
42transient neonatal diabetes mellitus10.3
43fanconi renotubular syndrome 210.3
44blindness10.3
45renal dysplasia10.3
46hyperuricemia10.1INS, GCK
47hypercholesterolemia10.0INS, PDX1
48glucose intolerance10.0INS, GCK, HNF1A
49greig cephalopolysyndactyly syndrome10.0
50insulinoma9.8INS, HNF1A, PDX1, GCK

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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Clinical features from OMIM:

125850, 613375, 137920, 600496, 609812, 125851, 606391, 606394, 612225, 606392 613370, 610508 more

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young

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Genetic Tests for Maturity-Onset Diabetes of the Young

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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
2 Maturity Onset Diabetes Mellitus in Young22

Anatomical Context for Maturity-Onset Diabetes of the Young

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

32
Testes, Kidney, Liver, Pancreas, Thyroid, Uterus

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

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

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

Publications for Maturity-Onset Diabetes of the Young

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Articles related to Maturity-Onset Diabetes of the Young:

(show top 50)    (show all 266)
idTitleAuthorsYear
1
Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients. (24804978)
2014
2
Incretin effect and glucagon responses to oral and intravenous glucose in patients with maturity-onset diabetes of the young--type 2 and type 3. (24677712)
2014
3
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
4
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
5
HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response. (24299156)
2013
6
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
7
Metabolic profiling in Maturity-onset diabetes of the young (MODY) and young onset type 2 diabetes fails to detect robust urinary biomarkers. (22859960)
2012
8
A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5). (23926411)
2012
9
A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young. (21263211)
2011
10
Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene. (21677039)
2011
11
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. (21395678)
2011
12
Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations. (20724646)
2010
13
A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2). (23926378)
2010
14
Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3. (17989309)
2008
15
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. (17828387)
2007
16
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
17
Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations. (17337496)
2007
18
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
19
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. (16731834)
2006
20
Molecular diagnosis on indication of maturity onset diabetes of the young; results from 184 patients]. (15693590)
2005
21
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
22
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
23
Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. (12955723)
2003
24
Regulation of pancreatic beta-cell function by the HNF transcription network: lessons from maturity-onset diabetes of the young (MODY). (14614204)
2003
25
The role of transcription factors in maturity-onset diabetes of the young. (12359128)
2002
26
Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young. (11485019)
2001
27
Prevalence of maturity-onset diabetes of the young mutations in Brazilian families with autosomal-dominant early-onset type 2 diabetes. (11315851)
2001
28
Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families. (10754480)
2000
29
Diagnosis of maturity-onset diabetes of the young in the pediatric diabetes clinic. (11202217)
2000
30
Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter. (10967107)
2000
31
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. (11058894)
2000
32
R127W in HNF4alpha is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family. (11043869)
2000
33
Impaired insulin secretion and increased insulin sensitivity in familial maturity-onset diabetes of the young 4 (insulin promoter factor 1 gene). (11078452)
2000
34
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
35
Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia. (9713013)
1998
36
Mutations in the genes of the HNF-family cause maturity-onset diabetes of the young (MODY)]. (9780731)
1998
37
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
38
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
39
Maturity-onset diabetes of the young (MODY), MODY genes and non-insulin-dependent diabetes mellitus. (9162575)
1997
40
Diabetic lipemia with maturity-onset diabetes of the young. (9260775)
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
Administration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity-onset diabetes of the young. (8404429)
1993
44
Identification of genetic markers flanking the locus for maturity-onset diabetes of the young on human chromosome 20. (1345781)
1992
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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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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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 networks37
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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Compounds related to Maturity-Onset Diabetes of the Young according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1mannitol-1-phosphate4410.0GCKR, GCK
2mannoheptulose4410.0GCKR, GCK
3chromium picolinate4410.0GCK, INS
4fructose 1-phosphate44 2411.0GCK, GCKR
5phosphoenolpyruvate44 1111.0HNF1A, GCK
6fructose-6-phosphate44 1111.0GCK, GCKR
7Alpha-D-Glucose249.9GCKR, GCK
8D-Glucose249.9GCK, GCKR
9Beta-D-Glucose24 1110.9GCK, GCKR
10diazoxide44 61 28 1112.9INS, GCK
11aicar44 24 1111.9GCK, INS
12leptomycin b44 6110.9GCK, GCKR
132-deoxyglucose44 1110.8GCK, INS
14metformin44 50 1111.8GCK, INS
15nicotinamide44 1110.8PDX1, INS
16n-acetylglucosamine449.8GCK, GCKR
17glucose 6-phosphate44 2410.7GCKR, GCK
18pyruvate449.6GCK, PDX1, HNF1A
19tolbutamide44 28 50 1112.6INS, HNF1A, GCK
20preproinsulin449.6GCK, PDX1, INS
21i-app449.6INS, PDX1, GCK
22incretin449.5GCK, PDX1, INS
23uric acid44 2410.5GCKR, INS
24streptozotocin449.5GCK, PDX1, INS
25creatinine449.4INS, HNF1A, GCK
26mannitol44 1110.3GCK, GCKR
27proglucagon449.2GCK, PDX1, ISL1
28cholesterol44 28 24 1112.2GCK, HNF1A, INS
29dexamethasone44 50 28 1112.2GCK, HNF1A, INS
30oligonucleotide449.2HNF1A, PDX1, GCK
31sulfonylurea449.2GCK, PDX1, HNF1A, INS
32lipid448.9INS, HNF1A, GCKR, GCK
33katp448.9INS, FOXA2, PDX1, GCK
34fatty acid448.9INS, FOXA2, HNF1A, GCK
35glycogen44 249.8INS, FOXA2, GCKR, GCK
36c-peptide448.5INS, FOXA2, HNF1A, PDX1, GCK
37glucose446.8GCK, INS, ISL1, FOXA2, HNF1A, PDX1

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

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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:05159410.0PDX1, GCK
2negative regulation of gluconeogenesisGO:0457219.9INS, GCK
3positive regulation of glycolytic processGO:0458219.9INS, GCK
4cellular glucose homeostasisGO:0016789.9GCKR, GCK
5positive regulation of glycogen biosynthetic processGO:0457259.9GCK, INS
6insulin secretionGO:0300739.8HNF1A, PDX1
7regulation of glucose transportGO:0108279.8GCKR, GCK
8hexose transportGO:0086459.7GCK, GCKR
9negative regulation of glucokinase activityGO:0331329.6GCKR, FOXA2
10glucose metabolic processGO:0060069.5PDX1, INS
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:0320249.2GCK, PDX1, ISL1
16negative regulation of neuron differentiationGO:0456659.1FOXA2, ISL1
17transcription from RNA polymerase II promoterGO:0063669.0FOXA2, PDX1, KLF11
18endocrine pancreas developmentGO:0310188.9INS, FOXA2, PDX1, GCK
19positive regulation of cell proliferationGO:0082848.6PDX1, ISL1, INS
20negative regulation of transcription from RNA polymerase II promoterGO:0001228.5KLF11, PDX1, FOXA2, ISL1
21glucose homeostasisGO:0425938.5GCK, PDX1, HNF1A, FOXA2, INS
22positive regulation of transcription from RNA polymerase II promoterGO:0459448.4ISL1, FOXA2, HNF1A, PDX1

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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  • Antibodies
  • Proteins
  • Lysates

Sources for Maturity-Onset Diabetes of the Young

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet