MODY1
MCID: MTR018
MIFTS: 54

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

Endocrine category

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

Sources:
47OMIM, 33MalaCards
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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 maturity-onset diabetes of the young 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:47 125850, 125851, 600496, 606391, 606392 606394, 609812, 610508, 612225, 613370, 613375 more

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

Sources:
49Orphanet, 43NIH Rare Diseases, 61UMLS, 20GeneTests, 22GTR, 47OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
maturity-onset diabetes of the young:
Inheritance: Autosomal dominant; Age of onset: Adulthood


Aliases & Descriptions:

maturity-onset diabetes of the young, type 1 43 61
type 1 maturity-onset diabetes of the young 43 20 22
diabetes mellitus, non-insulin-dependent 61
diabetes mellitus, insulin-dependent 61
maturity-onset diabetes of the young 49
diabetes mellitus mody type 1 43
mody hnf4a related 43
mody syndrome 49
mody, type i 47
mody type 1 43
mody1 43


External Ids:

ICD10 via Orphanet26 E11.8

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

Sources:
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 86)
idRelated DiseaseScoreTop Affiliating Genes
1maturity-onset diabetes of the young31.0PAX4, INS, NEUROD1, PDX1, HNF4A, HNF1A
2hypoglycemia31.0KCNJ11, GCK, HNF4A, INS, ABCC8
3type 1 diabetes30.9GCK, HNF1A, HNF4A, INS
4hyperinsulinemic hypoglycemia30.8ABCC8, INS
5type 2 diabetes mellitus30.8PAX4, ABCC8, INS, NEUROD1, PDX1, HNF4A
6adenoma30.6INS, HNF4A, HNF1A
7insulin resistance30.6GCK, HNF1A, HNF4A, INS, ABCC8, PAX4
8diabetic ketoacidosis30.4INS
9permanent neonatal diabetes mellitus30.4GCK, INS, ABCC8
10familial hyperinsulinism30.4KCNJ11, GCK, ABCC8
11hyperinsulinism30.4KCNJ11, GCK, INS, ABCC8
12gestational diabetes30.4KCNJ11, GCK, HNF1A, HNF4A, INS, ABCC8
13diabetes mellitus, noninsulin-dependent30.3ABCC8, NEUROD1, HNF4A
14maturity-onset diabetes of the young, type 810.7
15maturity-onset diabetes of the young, type 610.7
16maturity-onset diabetes of the young, type 710.7
17maturity-onset diabetes of the young, type 910.7
18maturity-onset diabetes of the young, type 310.7
19maturity-onset diabetes of the young, type 410.7
20maturity-onset diabetes of the young, type 210.6
21type 1 diabetes mellitus10.5
22renal cysts and diabetes syndrome10.5
23maturity-onset diabetes of the young type1010.5
24young syndrome10.4
25maturity-onset diabetes of the young, type 510.4
26monogenic diabetes10.4
27maturity-onset diabetes of the young type1110.4
28maturity-onset diabetes of the young, type 1110.4
29maturity-onset diabetes of the young, type 1010.4
30diabetes, permanent neonatal10.4
31diabetes mellitus, insulin-dependent, 1910.4
32diabetes mellitus, insulin-dependent, 710.4
33diabetes mellitus, insulin-dependent, 1310.4
34diabetes mellitus, insulin-dependent, 2210.4
35diabetes mellitus, insulin-dependent, 2310.4
36diabetes mellitus, insulin-dependent, 1810.4
37diabetes mellitus, insulin-dependent, neonatal10.4
38diabetes mellitus, insulin-dependent, 1510.4
39diabetes mellitus, insulin-dependent, 2110.4
40diabetes mellitus, insulin-dependent, 510.4
41diabetes mellitus, insulin-dependent, 810.4
42diabetes, mellitus, insulin-dependent 1010.4
43diabetes mellitus, insulin-dependent, 2410.4
44diabetes mellitus, insulin-dependent, 1710.4
45diabetes mellitus, insulin-dependent, 210.4
46diabetes mellitus, insulin-dependent, 410.4
47diabetes mellitus, insulin-dependent, 2010.4
48diabetes mellitus, insulin-dependent, 1110.4
49diabetes mellitus, insulin-dependent, 310.4
50diabetes mellitus, insulin-dependent, 610.4

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

Sources:
47OMIM
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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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Genetic Tests for Maturity-Onset Diabetes of the Young, Type 1

Sources:
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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Maturity-Onset Diabetes of the Young, Type 1

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Maturity-Onset Diabetes of the Young, Type 1:

63
id Symbol AA change Variation SNP ID
1HNF4Ap.Arg136TrpVAR_004668rs137853336
2HNF4Ap.Glu285GlnVAR_010601

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 54Reactome, 12EMD Millipore, 4Cell Signaling Technology, 30KEGG, 38NCBI BioSystems Database, 50PharmGKB
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Compounds for genes affiliated with Maturity-Onset Diabetes of the Young, Type 1

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB, 60Tocris 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
1minoxidil45 29 1112.4ABCC8
2meglitinide4510.2ABCC8, INS
3mitiglinide45 1111.2INS, ABCC8
4glipizide45 1111.2INS, ABCC8
5chlorpropamide45 1111.2ABCC8, INS
6nateglinide45 50 1112.0ABCC8, INS
7myristic acid45 11 2411.9CEL, INS, HNF4A
8chromium picolinate459.9INS, GCK
9cibenzoline459.8ABCC8, KCNJ11
10nicorandil45 2910.7KCNJ11, ABCC8
11orlistat45 60 1111.7CEL, INS
12mgadp459.7ABCC8, KCNJ11
13cromakalim45 2910.7ABCC8, KCNJ11
14digitonin459.6BLK, GCK
15proglucagon459.6GCK, PDX1
16preproinsulin459.5GCK, PDX1, INS
17i-app459.5GCK, PDX1, INS
18incretin459.5INS, PDX1, GCK
19glimepiride45 50 1111.4KCNJ11, INS, ABCC8
20gliclazide45 50 1111.4ABCC8, INS, KCNJ11
21streptozotocin459.4GCK, PDX1, INS
22phosphoenolpyruvate45 1110.4HNF4A, HNF1A, GCK
23glibenclamide45 29 50 6012.4ABCC8, INS, KCNJ11
24Glyburide119.4ABCC8, KCNJ11
25glycerol45 11 2411.3GCK, HNF4A, INS, CEL
26glycogen45 2410.3GCK, HNF4A, INS, ABCC8
27sterol459.1GCK, HNF1A, HNF4A
28pyruvate459.0GCK, HNF1A, HNF4A, PDX1
29chloramphenicol45 2 1110.9HNF1A, HNF4A, PDX1
30diazoxide45 60 29 1111.8ABCC8, INS, GCK, KCNJ11
31metformin45 50 1110.8ABCC8, INS, GCK, KCNJ11
32repaglinide45 50 1110.7KCNJ11, NEUROD1, INS, ABCC8, PAX4
33dexamethasone45 50 29 1111.7INS, HNF4A, HNF1A, GCK
34oligonucleotide458.7GCK, HNF1A, HNF4A, PDX1, CEL
35fatty acid458.6GCK, HNF1A, HNF4A, INS, ABCC8, CEL
36cholesterol45 29 11 2411.5GCK, HNF1A, HNF4A, INS, ABCC8, CEL
37potassium45 11 2410.5KCNJ11, GCK, HNF1A, ABCC8
38glutamine458.5KCNJ11, GCK, HNF1A, HNF4A
39lipid458.5GCK, HNF1A, HNF4A, INS, ABCC8, CEL
40arginine458.5KCNJ11, GCK, HNF4A, INS, ABCC8
41serine458.4GCK, HNF4A, PDX1, INS, ABCC8, CEL
42glutamate458.4KCNJ11, GCK, HNF4A, INS, ABCC8
43katp458.4KCNJ11, GCK, PDX1, INS, ABCC8
44retinoic acid45 249.4GCK, HNF1A, HNF4A, PDX1, NEUROD1
45leucine458.4ABCC8, HNF4A, HNF1A, GCK, KCNJ11
46tolbutamide45 50 29 1111.3KCNJ11, GCK, HNF1A, INS, ABCC8
47c-peptide457.9KCNJ11, GCK, HNF1A, HNF4A, PDX1, INS
48sulfonylurea457.9ABCC8, INS, PDX1, HNF1A, GCK, KCNJ11
49calcium45 50 11 2410.3KCNJ11, GCK, HNF4A, PDX1, NEUROD1, BLK
50glucose456.4KLF11, KCNJ11, GCK, HNF1A, HNF4A, PDX1

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

Sources:
16Gene Ontology
See all sources

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

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:0036909.3PAX4, NEUROD1, HNF1A
3transcription factor bindingGO:0081349.1NEUROD1, PDX1, HNF1A
4transcription regulatory region DNA bindingGO:0442129.1HNF4A, HNF1A, KLF11
5sequence-specific DNA bindingGO:0435659.0HNF1A, HNF4A, NEUROD1, PAX4
6sequence-specific DNA binding transcription factor activityGO:0037008.1PAX4, KLF11, HNF1A, HNF4A, PDX1, NEUROD1

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

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  • Proteins
  • Lysates
  • Antibodies

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet