MODY1
MCID: MTR018
MIFTS: 64

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

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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 hypoglycemia and diabetes mellitus. 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 HIF-1-alpha transcription factor network and Dichloroethylene metabolism. The drugs insulin and insulin, aspart, human and the compounds chromium picolinate and proglucagon have been mentioned in the context of this disorder. Related mouse phenotypes are adipose tissue and renal/urinary system.

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

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49Orphanet, 43NIH Rare Diseases, 62UMLS, 20GeneTests, 22GTR, 47OMIM, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



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 62
type 1 maturity-onset diabetes of the young 43 20 22
diabetes mellitus, non-insulin-dependent 62
diabetes mellitus, insulin-dependent 62
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
SNOMED-CT via Orphanet59 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 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, Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia30.9HNF4A, INS, ABCC8, GCK, KCNJ11
2diabetes mellitus30.9KCNJ11, INS, PAX4, HNF1A, ABCC8, PDX1
3hyperinsulinemic hypoglycemia30.9INS, ABCC8
4maturity-onset diabetes of the young30.7GCK, PDX1, HNF4A, HNF1A, NEUROD1, PAX4
5type 1 diabetes mellitus30.7INS, GCK, HNF4A, HNF1A
6diabetic ketoacidosis30.6INS
7insulin resistance30.5HNF1A, GCK, HNF4A, ABCC8, PAX4, INS
8obesity30.5INS, HNF1A, GCK, HNF4A, ABCC8, KCNJ11
9type 2 diabetes mellitus30.5GCK, PDX1, ABCC8, KCNJ11, INS, PAX4
10permanent neonatal diabetes mellitus30.4ABCC8, INS, KCNJ11
11hyperinsulinism30.4GCK, INS, KCNJ11, ABCC8
12gestational diabetes30.3HNF1A, ABCC8, KCNJ11, GCK, HNF4A, INS
13hyperglycemia30.1PDX1, HNF4A, ABCC8, KCNJ11, INS, PAX4
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 510.8
18maturity-onset diabetes of the young, type 810.8
19maturity-onset diabetes of the young, type 610.7
20maturity-onset diabetes of the young, type 710.7
21maturity-onset diabetes of the young, type 910.7
22maturity-onset diabetes of the young, type 410.7
23hepatitis10.7
24maturity-onset diabetes of the young type1010.6
25maturity-onset diabetes of the young type1110.5
26maturity-onset diabetes of the young, type 1110.5
27maturity-onset diabetes of the young, type 1010.5
28diabetic nephropathy10.3
29duodenitis10.3
30necrobiosis lipoidica10.3
31granuloma annulare10.3
32proliferative diabetic retinopathy10.3
33colorectal cancer10.3
34diabetic retinopathy10.3
35thyroiditis10.3
36monogenic diabetes10.3
37transient neonatal diabetes mellitus10.3
38renal dysplasia10.3
39pancreatic agenesis10.1PDX1
40exocrine pancreatic insufficiency10.1CEL
41hepatoblastoma10.0HNF4A, HNF1A
42leukemia10.0
43myeloid leukemia10.0
44hyperuricemia10.0INS, GCK
45diabetes mellitus, noninsulin-dependent10.0NEUROD1, HNF4A, ABCC8
46familial hyperinsulinism10.0ABCC8, GCK, KCNJ11
47hyperammonemia multi-gene panels10.0KCNJ11, GCK, ABCC8
48glucose intolerance10.0GCK, PDX1, INS, PAX4
49metabolic syndrome x10.0ABCC8, INS, GCK, HNF4A
50primary hyperoxaluria10.0HNF1A, INS, HNF4A

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

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

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47OMIM
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Symptoms by clinical synopsis from OMIM:

125850

Clinical features from OMIM:

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

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

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-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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37MGI
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MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.6CEL, INS, KCNJ11, HNF1A
2MP:00053678.6NEUROD1, INS, HNF1A, GCK, PDX1
3MP:00053708.5INS, GCK, PDX1, HNF4A, HNF1A, CEL
4MP:00053818.2PDX1, HNF1A, CEL, NEUROD1, INS
5MP:00030128.0INS, ABCC8, KCNJ11, HNF1A, PDX1
6MP:00028737.9BLK, INS, PAX4, HNF4A, KLF11, PDX1
7MP:00107687.4HNF4A, GCK, KCNJ11, INS, PAX4, NEUROD1
8MP:00053797.2GCK, ABCC8, KCNJ11, INS, PAX4, NEUROD1
9MP:00053787.1GCK, INS, PAX4, NEUROD1, CEL, HNF1A
10MP:00053767.0ABCC8, KCNJ11, INS, NEUROD1, CEL, HNF1A

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

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52PubMed
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Articles related to Maturity-Onset Diabetes of the Young, Type 1:

idTitleAuthorsYear
1
Detection and characterization of two novel mutations in the HNF4A gene in maturity-onset diabetes of the young type 1 in two Japanese families. (23652628)
2013
2
Maturity-onset diabetes of the young Type 1 (MODY1)-associated mutations R154X and E276Q in hepatocyte nuclear factor 4alpha (HNF4alpha) gene impair recruitment of p300, a key transcriptional co-activator. (11435618)
2001
3
Functional properties of the R154X HNF-4alpha protein generated by a mutation associated with maturity-onset diabetes of the young, type 1. (10940385)
2000

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

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 1:

64
id Symbol AA change Variation ID SNP ID
1HNF4Ap.Arg136TrpVAR_004668rs137853336
2HNF4Ap.Glu285GlnVAR_010601

Clinvar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1HNF4ANM_000457.4(HNF4A): c.829C> T (p.Gln277Ter)single nucleotide variantPathogenicrs137853334GRCh37Chr 20, 43048453: 43048453
2HNF4ANM_000457.4(HNF4A): c.487C> T (p.Arg163Ter)single nucleotide variantPathogenicrs137853335GRCh37Chr 20, 43042435: 43042435
3HNF4ANM_000457.4(HNF4A): c.406C> T (p.Arg136Trp)single nucleotide variantPathogenicrs137853336GRCh37Chr 20, 43042354: 43042354
4HNF4AHNF4A, 1-BP DEL, PHE75TdeletionPathogenic
5HNF4AHNF4A, IVS5, DEL A, -2deletionPathogenic
6HNF4ANM_000457.4(HNF4A): c.1118T> G (p.Met373Arg)single nucleotide variantPathogenicrs137853338GRCh37Chr 20, 43052883: 43052883

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

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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, 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:
50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN, 55Reactome, 51PharmGKB, 12EMD Millipore, 5Cell Signaling Technology, 30KEGG
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Pathways related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9HNF4A, GCK
29.9HNF4A, HNF1A
39.8NEUROD1, HNF4A
4
Show member pathways
9.3ABCC8, KCNJ11
59.3KCNJ11, ABCC8
69.3KCNJ11, ABCC8
79.3PDX1, INS, HNF1A
89.1BLK, INS
9
Show member pathways
9.0GCK, INS, NEUROD1, HNF4A
10
Show member pathways
8.8ABCC8, KCNJ11, INS
118.6NEUROD1, HNF1A, PDX1, HNF4A, INS
12
Show member pathways
8.2ABCC8, INS, PDX1, KCNJ11, GCK
13
Show member pathways
8.2INS, KCNJ11, GCK, ABCC8, CEL
14
Show member pathways
7.9GCK, PDX1, HNF4A, HNF1A, NEUROD1, PAX4
15
Show member pathways
7.9PDX1, PAX4, INS, NEUROD1, HNF1A, GCK
167.6ABCC8, KCNJ11, INS, HNF1A, HNF4A, GCK
17
Show member pathways
7.2GCK, ABCC8, KCNJ11, NEUROD1, HNF1A, HNF4A

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

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45Novoseek, 11DrugBank, 51PharmGKB, 29IUPHAR, 24HMDB, 61Tocris Bioscience, 3BitterDB
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Compounds related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards/GeneDecks:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1chromium picolinate4510.1GCK, INS
2proglucagon4510.0PDX1, GCK
3phosphoenolpyruvate45 1110.9GCK, HNF1A, HNF4A
4meglitinide459.8ABCC8, INS
5mitiglinide45 1110.8INS, ABCC8
6preproinsulin459.8INS, GCK, PDX1
7i-app459.8PDX1, GCK, INS
8incretin459.8GCK, INS, PDX1
9streptozotocin459.7GCK, PDX1, INS
10cibenzoline459.7ABCC8, KCNJ11
11sterol459.7HNF1A, HNF4A, GCK
12glipizide45 51 1111.7INS, ABCC8
13nicorandil45 2910.7ABCC8, KCNJ11
14chlorpropamide45 51 1111.7ABCC8, INS
15mgadp459.7ABCC8, KCNJ11
16pyruvate459.7HNF1A, GCK, PDX1, HNF4A
17myristic acid45 24 1111.6HNF4A, INS, CEL
18orlistat45 61 1111.6CEL, INS
19cromakalim45 2910.6ABCC8, KCNJ11
20minoxidil45 29 1111.5KCNJ11, ABCC8
21nateglinide45 51 1111.5ABCC8, INS
22digitonin459.5BLK, GCK
23chloramphenicol45 3 51 1112.4HNF1A, HNF4A, PDX1
24glycerol45 24 1111.4INS, GCK, CEL, HNF4A
25oligonucleotide459.3CEL, PDX1, GCK, HNF4A, HNF1A
26gliclazide45 51 1111.2ABCC8, KCNJ11, INS
27glutamine459.2HNF4A, KCNJ11, GCK, HNF1A
28glimepiride45 51 1111.2INS, ABCC8, KCNJ11
29glycogen45 2410.2INS, GCK, HNF4A, ABCC8
30glibenclamide45 29 51 6112.2ABCC8, KCNJ11, INS
31retinoic acid45 2410.1NEUROD1, HNF1A, HNF4A, GCK, PDX1
32potassium45 24 1111.0KCNJ11, HNF1A, GCK, ABCC8
33diazoxide45 61 29 1112.0INS, ABCC8, KCNJ11, GCK
34metformin45 51 1111.0GCK, INS, KCNJ11, ABCC8
35leucine458.8ABCC8, HNF4A, HNF1A, KCNJ11, GCK
36dexamethasone45 51 29 1111.8HNF4A, HNF1A, GCK, INS
37katp458.6GCK, PDX1, INS, KCNJ11, ABCC8
38tolbutamide45 29 51 1111.6KCNJ11, HNF1A, GCK, ABCC8, INS
39arginine458.6INS, HNF4A, KCNJ11, ABCC8, GCK
40fatty acid458.6GCK, HNF4A, CEL, INS, ABCC8, HNF1A
41glutamate458.6GCK, ABCC8, KCNJ11, INS, HNF4A
42cholesterol45 29 24 1111.6ABCC8, INS, CEL, HNF1A, HNF4A, GCK
43c-peptide458.6GCK, HNF4A, HNF1A, INS, KCNJ11, PDX1
44lipid458.5INS, GCK, HNF4A, HNF1A, CEL, ABCC8
45phosphatidylinositol458.5PDX1, BLK, INS, HNF4A
46serine458.5GCK, PDX1, ABCC8, HNF4A, CEL, INS
47repaglinide51 45 1110.4NEUROD1, ABCC8, KCNJ11, INS, PAX4
48sulfonylurea458.3HNF1A, PDX1, INS, KCNJ11, ABCC8, GCK
49calcium45 51 24 1110.3ABCC8, PDX1, GCK, HNF4A, CEL, NEUROD1
50glucose456.9KLF11, HNF1A, ABCC8, NEUROD1, 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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Cellular components related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056549.1GCK, HNF4A, NEUROD1, PAX4

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1detection of glucoseGO:05159410.2GCK, PDX1
2signal transduction involved in regulation of gene expressionGO:02301910.0NEUROD1, HNF4A
3nitric oxide mediated signal transductionGO:0072639.9PDX1, NEUROD1
4negative regulation of gluconeogenesisGO:0457219.9GCK, INS
5positive regulation of glycolytic processGO:0458219.9GCK, INS
6positive regulation of glycogen biosynthetic processGO:0457259.9INS, GCK
7insulin secretionGO:0300739.7NEUROD1, HNF1A, PDX1
8glucose transportGO:0157589.7INS, GCK
9cellular response to glucose stimulusGO:0713339.5KCNJ11, NEUROD1
10response to glucoseGO:0097499.5HNF4A, NEUROD1
11negative regulation of cell proliferationGO:0082859.5HNF4A, KLF11, PDX1
12positive regulation of cell differentiationGO:0455979.4INS, PAX4, NEUROD1
13positive regulation of insulin secretionGO:0320249.4GCK, BLK, PDX1
14potassium ion transmembrane transportGO:0718059.3KCNJ11, ABCC8
15glucose metabolic processGO:0060069.3PDX1, KCNJ11, INS
16positive regulation of transcription from RNA polymerase II promoterGO:0459449.2NEUROD1, HNF1A, HNF4A, PDX1
17energy reserve metabolic processGO:0061129.1INS, KCNJ11, ABCC8
18response to drugGO:0424939.0PAX4, PDX1, NEUROD1, KCNJ11
19glucose homeostasisGO:0425938.7HNF4A, INS, NEUROD1, PDX1, HNF1A, GCK
20endocrine pancreas developmentGO:0310188.6GCK, HNF4A, NEUROD1, PDX1, PAX4, INS
21small molecule metabolic processGO:0442818.3KCNJ11, GCK, CEL, INS, ABCC8
22regulation of insulin secretionGO:0507968.2INS, GCK, HNF4A, NEUROD1, ABCC8, KCNJ11

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
2transcription regulatory region DNA bindingGO:0442129.5HNF4A, HNF1A, KLF11
3protein heterodimerization activityGO:0469829.4PDX1, HNF1A, NEUROD1
4sequence-specific DNA bindingGO:0435659.0PAX4, NEUROD1, HNF4A, HNF1A
5sequence-specific DNA binding transcription factor activityGO:0037008.4NEUROD1, KLF11, PDX1, HNF4A, HNF1A, 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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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