MODY1
MCID: MTR018
MIFTS: 60

Maturity-Onset Diabetes of the Young, Type 1 (MODY1) malady

Endocrine diseases category

Summaries for Maturity-Onset Diabetes of the Young, Type 1

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46OMIM, 32MalaCards
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MalaCards: Maturity-Onset Diabetes of the Young, Type 1, also known as type 1 maturity-onset diabetes of the young, is related to type 1 diabetes and hypoglycemia. An important gene associated with Maturity-Onset Diabetes of the Young, Type 1 is HNF4A (hepatocyte nuclear factor 4, alpha), and among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells. The drugs insulin and insulin, aspart, human and the compounds minoxidil and meglitinide have been mentioned in the context of this disorder. Related mouse phenotypes are adipose tissue and normal.

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 1

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
maturity-onset diabetes of the young:
Inheritance: Autosomal dominant; Age of onset: Adulthood


Aliases & Descriptions:

maturity-onset diabetes of the young, type 1 42 60
type 1 maturity-onset diabetes of the young 42 20 22
diabetes mellitus, non-insulin-dependent 60
maturity-onset diabetes of the young 48
diabetes mellitus, insulin-dependent 60
diabetes mellitus mody type 1 42
mody hnf4a related 42
mody syndrome 48
mody, type i 46
mody type 1 42
mody1 42


External Ids:

ICD10 via Orphanet26 E11.8
SNOMED-CT via Orphanet57 28453007

Related Diseases for Maturity-Onset Diabetes of the Young, Type 1

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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 8
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 6
Maturity-Onset Diabetes of the Young, Type 7 Maturity-Onset Diabetes of the Young, Type 9
Maturity-Onset Diabetes of the Young, Type 5 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, Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1type 1 diabetes31.3GCK, HNF1A, HNF4A, INS
2hypoglycemia30.9KCNJ11, GCK, HNF4A, INS, ABCC8
3hepatitis30.9HNF4A
4maturity-onset diabetes of the young30.9PAX4, INS, NEUROD1, PDX1, HNF4A, HNF1A
5type 2 diabetes mellitus30.8PAX4, ABCC8, INS, NEUROD1, PDX1, HNF4A
6hyperinsulinemic hypoglycemia30.7ABCC8, INS
7obesity30.6KCNJ11, GCK, HNF1A, HNF4A, INS, ABCC8
8diabetic ketoacidosis30.4INS
9permanent neonatal diabetes mellitus30.4GCK, INS, ABCC8
10familial hyperinsulinism30.4KCNJ11, GCK, ABCC8
11hyperinsulinism30.4KCNJ11, GCK, INS, ABCC8
12gestational diabetes30.3KCNJ11, GCK, HNF1A, HNF4A, INS, ABCC8
13hyperglycemia30.3KCNJ11, GCK, HNF1A, HNF4A, PDX1, NEUROD1
14pancreatitis30.0CEL, INS
15diabetes mellitus29.9KCNJ11, GCK, HNF1A, HNF4A, PDX1, NEUROD1
16maturity-onset diabetes of the young, type 810.7
17maturity-onset diabetes of the young, type 610.7
18maturity-onset diabetes of the young, type 710.7
19maturity-onset diabetes of the young, type 910.7
20maturity-onset diabetes of the young, type 210.7
21maturity-onset diabetes of the young, type 310.7
22maturity-onset diabetes of the young, type 410.7
23hepatitis a10.6
24renal cysts and diabetes syndrome10.5
25maturity-onset diabetes of the young type1010.5
26diabetic nephropathy10.4
27type 1 diabetes mellitus10.4
28maturity-onset diabetes of the young, type 510.4
29maturity-onset diabetes of the young type1110.4
30maturity-onset diabetes of the young, type 1110.4
31maturity-onset diabetes of the young, type 1010.4
32wolfram syndrome10.4
33epiphyseal dysplasia multiple with early-onset diabetes mellitus10.4
34diabetes mellitus, insulin-dependent, 1910.4
35diabetes mellitus, insulin-dependent, 710.4
36diabetes mellitus, insulin-dependent, 1310.4
37diabetes mellitus, insulin-dependent, 2210.4
38diabetes mellitus, insulin-dependent, 2310.4
39diabetes mellitus, insulin-dependent, 1810.4
40diabetes mellitus, insulin-dependent, neonatal10.4
41diabetes mellitus, insulin-dependent, 1510.4
42diabetes mellitus, insulin-dependent, 2110.4
43diabetes mellitus, insulin-dependent, 510.4
44diabetes mellitus, insulin-dependent, 810.4
45diabetes, mellitus, insulin-dependent 1010.4
46diabetes mellitus, insulin-dependent, 2410.4
47diabetes mellitus, insulin-dependent, 1710.4
48diabetes mellitus, insulin-dependent, 210.4
49diabetes mellitus, insulin-dependent, 410.4
50diabetes mellitus, insulin-dependent, 2010.4

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 1:



Diseases related to maturity-onset diabetes of the young, type 1

Clinical Features for Maturity-Onset Diabetes of the Young, Type 1

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Sources:
46OMIM
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Clinical features from OMIM:

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

Clinical synopsis from OMIM:

125850

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Genetic Tests for Maturity-Onset Diabetes of the Young, Type 1

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20GeneTests, 22GTR
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Genetic tests related to Maturity-Onset Diabetes of the Young, Type 1:

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Type 120 HNF4A
2 Maturity-Onset Diabetes of the Young, Type 122

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 1

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Animal Models for Maturity-Onset Diabetes of the Young, Type 1 or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.5CEL, INS, HNF1A, KCNJ11
2MP:00028738.3INS, BLK, PDX1, HNF4A, KLF11, PAX4
3MP:00053818.1HNF1A, CEL, INS, NEUROD1, PDX1
4MP:00053678.1INS, NEUROD1, PDX1, HNF1A, GCK
5MP:00053708.1INS, PDX1, HNF4A, HNF1A, GCK, CEL
6MP:00030127.9ABCC8, HNF1A, INS, PDX1, KCNJ11
7MP:00053796.9NEUROD1, INS, ABCC8, PAX4, PDX1, HNF1A
8MP:00107686.8KCNJ11, PDX1, INS, PAX4, HNF4A, HNF1A
9MP:00053766.6KCNJ11, CEL, ABCC8, INS, NEUROD1, HNF4A
10MP:00053786.6CEL, PAX4, INS, NEUROD1, KCNJ11, PDX1

Publications for Maturity-Onset Diabetes of the Young, Type 1

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Genetic Variations for Maturity-Onset Diabetes of the Young, Type 1

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Maturity-Onset Diabetes of the Young, Type 1:

62
id Symbol AA change Variation ID SNP ID
1HNF4Ap.Arg136TrpVAR_004668rs137853336
2HNF4Ap.Glu285GlnVAR_010601

Expression for genes affiliated with Maturity-Onset Diabetes of the Young, Type 1

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Maturity-Onset Diabetes of the Young, Type 1

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 1.

Pathways for genes affiliated with Maturity-Onset Diabetes of the Young, Type 1

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Sources:
51QIAGEN, 53Reactome, 12EMD Millipore, 4Cell Signaling Technology, 29KEGG, 37NCBI BioSystems Database, 49PharmGKB
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Compounds for genes affiliated with Maturity-Onset Diabetes of the Young, Type 1

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1minoxidil44 28 1112.4ABCC8
2meglitinide4410.2ABCC8, INS
3mitiglinide44 1111.2INS, ABCC8
4glipizide44 1111.2ABCC8, INS
5chlorpropamide44 1111.2INS, ABCC8
6nateglinide44 49 1112.0ABCC8, INS
7myristic acid44 11 2411.9CEL, INS, HNF4A
8chromium picolinate449.9GCK, INS
9cibenzoline449.8KCNJ11, ABCC8
10nicorandil44 2810.7ABCC8, KCNJ11
11orlistat44 59 1111.7CEL, INS
12mgadp449.7ABCC8, KCNJ11
13cromakalim44 2810.7KCNJ11, ABCC8
14digitonin449.6GCK, BLK
15proglucagon449.6PDX1, GCK
16preproinsulin449.5GCK, INS, PDX1
17i-app449.5GCK, PDX1, INS
18incretin449.5INS, PDX1, GCK
19glimepiride44 49 1111.4KCNJ11, INS, ABCC8
20gliclazide44 49 1111.4ABCC8, KCNJ11, INS
21streptozotocin449.4PDX1, INS, GCK
22phosphoenolpyruvate44 1110.4HNF1A, GCK, HNF4A
23glibenclamide44 28 49 5912.4ABCC8, KCNJ11, INS
24Glyburide119.4ABCC8, KCNJ11
25glycerol44 11 2411.3CEL, HNF4A, GCK, INS
26glycogen44 2410.3ABCC8, INS, HNF4A, GCK
27sterol449.1HNF1A, GCK, HNF4A
28pyruvate449.0GCK, HNF1A, HNF4A, PDX1
29chloramphenicol44 2 1110.9HNF1A, PDX1, HNF4A
30diazoxide44 59 28 1111.8INS, ABCC8, KCNJ11, GCK
31metformin44 49 1110.8KCNJ11, GCK, INS, ABCC8
32repaglinide44 49 1110.7PAX4, ABCC8, INS, NEUROD1, KCNJ11
33dexamethasone44 49 28 1111.7HNF1A, HNF4A, INS, GCK
34oligonucleotide448.7GCK, HNF1A, HNF4A, PDX1, CEL
35fatty acid448.6CEL, ABCC8, HNF1A, INS, HNF4A, GCK
36cholesterol44 28 11 2411.5CEL, ABCC8, INS, GCK, HNF1A, HNF4A
37potassium44 11 2410.5ABCC8, HNF1A, GCK, KCNJ11
38glutamine448.5GCK, HNF4A, KCNJ11, HNF1A
39lipid448.5HNF4A, HNF1A, GCK, INS, ABCC8, CEL
40arginine448.5GCK, HNF4A, INS, KCNJ11, ABCC8
41serine448.4CEL, INS, PDX1, HNF4A, GCK, ABCC8
42glutamate448.4KCNJ11, ABCC8, GCK, HNF4A, INS
43katp448.4GCK, KCNJ11, INS, ABCC8, PDX1
44retinoic acid44 249.4HNF4A, PDX1, NEUROD1, HNF1A, GCK
45leucine448.4ABCC8, HNF4A, HNF1A, GCK, KCNJ11
46tolbutamide44 49 28 1111.3INS, ABCC8, GCK, KCNJ11, HNF1A
47c-peptide447.9KCNJ11, PDX1, HNF1A, GCK, HNF4A, INS
48sulfonylurea447.9INS, ABCC8, PDX1, HNF1A, GCK, KCNJ11
49calcium44 49 11 2410.3NEUROD1, PDX1, HNF4A, GCK, CEL, ABCC8
50glucose446.4HNF1A, KLF11, KCNJ11, ABCC8, PAX4, INS

GO Terms for genes affiliated with Maturity-Onset Diabetes of the Young, Type 1

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16Gene Ontology
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Biological processes related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1signal transduction involved in regulation of gene expressionGO:0230199.9NEUROD1, HNF4A
2SMAD protein signal transductionGO:0603959.8HNF1A, HNF4A
3negative regulation of gluconeogenesisGO:0457219.8GCK, INS
4nitric oxide mediated signal transductionGO:0072639.8PDX1, NEUROD1
5positive regulation of glycolysisGO:0458219.7INS, GCK
6positive regulation of cell differentiationGO:0455979.7NEUROD1, PAX4, INS
7detection of glucoseGO:0515949.7GCK, PDX1
8positive regulation of glycogen biosynthetic processGO:0457259.7GCK, INS
9response to glucose stimulusGO:0097499.6HNF1A, NEUROD1, HNF4A
10insulin secretionGO:0300739.4HNF1A, PDX1, NEUROD1
11positive regulation of insulin secretionGO:0320249.3BLK, PDX1, GCK
12potassium ion transmembrane transportGO:0718059.3KCNJ11, ABCC8
13energy reserve metabolic processGO:0061129.2KCNJ11, INS, ABCC8
14glucose metabolic processGO:0060069.1PDX1, KCNJ11, INS
15positive regulation of transcription from RNA polymerase II promoterGO:0459448.8HNF1A, HNF4A, PDX1, NEUROD1
16response to drugGO:0424938.7PAX4, PDX1, KCNJ11, NEUROD1
17negative regulation of transcription from RNA polymerase II promoterGO:0001228.7PDX1, HNF1A, KLF11, PAX4
18glucose homeostasisGO:0425938.2INS, PDX1, HNF4A, HNF1A, GCK, NEUROD1
19endocrine pancreas developmentGO:0310187.9NEUROD1, HNF1A, HNF4A, PDX1, GCK, PAX4
20small molecule metabolic processGO:0442817.8KCNJ11, CEL, ABCC8, INS, GCK
21regulation of insulin secretionGO:0507967.5NEUROD1, INS, ABCC8, HNF1A, KCNJ11, GCK

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II activating transcription factor bindingGO:0011029.5HNF4A, NEUROD1
2double-stranded DNA bindingGO:0036909.3HNF1A, NEUROD1, PAX4
3transcription factor bindingGO:0081349.1HNF1A, PDX1, NEUROD1
4transcription regulatory region DNA bindingGO:0442129.1HNF1A, HNF4A, KLF11
5sequence-specific DNA bindingGO:0435659.0HNF1A, HNF4A, NEUROD1, PAX4
6sequence-specific DNA binding transcription factor activityGO:0037008.1KLF11, HNF1A, HNF4A, PDX1, NEUROD1, PAX4

Products for genes affiliated with Maturity-Onset Diabetes of the Young, Type 1

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Sources for Maturity-Onset Diabetes of the Young, Type 1

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet