MODY4
MCID: MTR021
MIFTS: 41

Maturity-Onset Diabetes of the Young, Type 4 (MODY4)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 4

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 4:

Name: Maturity-Onset Diabetes of the Young, Type 4 58 54 30 6
Mody4 58 12 54 76
Mody Type 4 12 54 76
Maturity-Onset Diabetes of the Young Type 4 12 15
Mody, Type Iv 58 13
Diabetes of the Young, Maturity-Onset, Type 4 41
Maturity-Onset Diabetes of the Young, Type Iv 74
Type 4 Maturity-Onset Diabetes of the Young 54
Mody Insulin Promoter Factor-1 Related 54
Maturity-Onset Diabetes of the Young 4 76
Diabetes Mellitus Mody Type 4 54
Mody, Type 4 58
Mody-4 76

Characteristics:

HPO:

33
maturity-onset diabetes of the young, type 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111103
OMIM 58 606392
MeSH 45 D003924
MedGen 43 C1833382
SNOMED-CT via HPO 70 263681008 44054006 609561005
UMLS 74 C1833382

Summaries for Maturity-Onset Diabetes of the Young, Type 4

UniProtKB/Swiss-Prot : 76 Maturity-onset diabetes of the young 4: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 4, also known as mody4, is related to maturity-onset diabetes of the young and maturity-onset diabetes of the young, type 3. An important gene associated with Maturity-Onset Diabetes of the Young, Type 4 is PDX1 (Pancreatic And Duodenal Homeobox 1), and among its related pathways/superpathways are Developmental Biology and Glucose / Energy Metabolism. Affiliated tissues include liver, pancreatic islet and kidney, and related phenotypes are type ii diabetes mellitus and maturity-onset diabetes of the young

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in mutation in the PDX1 gene on chromosome 13q12.2.

Description from OMIM: 606392

Related Diseases for Maturity-Onset Diabetes of the Young, Type 4

Diseases in the Maturity-Onset Diabetes of the Young family:

Maturity-Onset Diabetes of the Young, Type 1 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 10
Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type 13
Maturity-Onset Diabetes of the Young, Type 14

Diseases related to Maturity-Onset Diabetes of the Young, Type 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 30.6 GCK HNF1A HNF1B HNF4A PDX1
2 maturity-onset diabetes of the young, type 3 28.9 GCK HNF1A HNF1B HNF4A PDX1
3 diabetes mellitus 28.9 GCK HNF1A HNF1B HNF4A PDX1
4 maturity-onset diabetes of the young, type 7 28.2 GCK HMX1 HNF1A HNF1B HNF4A PDX1
5 pancreas, dorsal, agenesis of 10.1
6 intestinal atresia 10.1 GCK PDX1
7 diabetes mellitus, permanent neonatal 10.0 GCK PDX1
8 hyperinsulinemic hypoglycemia 10.0 GCK HNF4A
9 maturity-onset diabetes of the young, type 14 9.9 GCK HNF1A
10 chromophobe renal cell carcinoma 9.9 HNF1A HNF1B
11 aminoaciduria 9.9 HNF1A HNF4A
12 insulinoma 9.9 GCK PDX1
13 polycystic kidney disease 4 with or without polycystic liver disease 9.9 HNF1A HNF1B
14 autosomal genetic disease 9.8 GCK HNF1A
15 neonatal diabetes mellitus 9.8 GCK HNF1B PDX1
16 gestational diabetes 9.8 GCK HNF4A
17 hyperglycemia 9.7 GCK HNF1A PDX1
18 hyperinsulinism 9.7 GCK HNF4A
19 maturity-onset diabetes of the young, type 13 9.7 GCK HNF1A HNF4A
20 pancreatic agenesis 9.6 GCK HMX1 PDX1
21 monogenic diabetes 9.4 GCK HNF1A HNF4A PDX1
22 maturity-onset diabetes of the young, type 2 9.2 GCK HNF1A HNF1B HNF4A PDX1
23 renal cysts and diabetes syndrome 9.2 GCK HNF1A HNF1B HNF4A PDX1
24 maturity-onset diabetes of the young, type 6 9.2 GCK HNF1A HNF1B HNF4A PDX1
25 maturity-onset diabetes of the young, type 1 9.2 GCK HNF1A HNF1B HNF4A PDX1
26 diabetes mellitus, noninsulin-dependent 9.2 GCK HNF1A HNF1B HNF4A PDX1

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 4:



Diseases related to Maturity-Onset Diabetes of the Young, Type 4

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 4

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 4:

33
# Description HPO Frequency HPO Source Accession
1 type ii diabetes mellitus 33 HP:0005978
2 maturity-onset diabetes of the young 33 HP:0004904

Clinical features from OMIM:

606392

GenomeRNAi Phenotypes related to Maturity-Onset Diabetes of the Young, Type 4 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.62 HNF1A HNF4A

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 4:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 GCK HMX1 HNF1A HNF1B HNF4A PDX1
2 liver/biliary system MP:0005370 9.55 GCK HNF1A HNF1B HNF4A PDX1
3 mortality/aging MP:0010768 9.43 GCK HMX1 HNF1A HNF1B HNF4A PDX1
4 renal/urinary system MP:0005367 8.92 GCK HNF1A HNF1B PDX1

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 4

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 4

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 4

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 4:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 4 30 PDX1

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 4

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 4:

42
Liver, Pancreatic Islet, Kidney

Publications for Maturity-Onset Diabetes of the Young, Type 4

Articles related to Maturity-Onset Diabetes of the Young, Type 4:

(show all 15)
# Title Authors Year
1
Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )
2016
2
Genetically Targeted Dipeptidyl Peptidase-4 Inhibitor Use in a Patient with a Novel Mutation of MODY type 4. ( 26543388 )
2015
3
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. ( 20621032 )
2010
4
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. ( 19496967 )
2009
5
MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cells. ( 19843526 )
2009
6
Pdx1 (MODY4) regulates pancreatic beta cell susceptibility to ER stress. ( 19855005 )
2009
7
IPF-1/MODY4 gene missense mutation in an Italian family with type 2 and gestational diabetes. ( 16092045 )
2005
8
Identification of PCIF1, a POZ domain protein that inhibits PDX-1 (MODY4) transcriptional activity. ( 15121856 )
2004
9
Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family. ( 14764823 )
2004
10
Functional consequences of mutations in the MODY4 gene (IPF1) and coexistence with MODY3 mutations. ( 11270685 )
2001
11
Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein. ( 9649577 )
1998
12
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. ( 8988180 )
1997
13
A novel locus, Mody4, distal to D7Mit189 on chromosome 7 determines early-onset NIDDM in nonobese C57BL/6 (Akita) mutant mice. ( 9133560 )
1997
14
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. ( 9326926 )
1997
15
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. ( 8506821 )
1993

Variations for Maturity-Onset Diabetes of the Young, Type 4

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 4:

6 (show all 29)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDX1 PDX1, 1-BP DEL, 188C deletion Pathogenic
2 PDX1 NM_000209.3(PDX1): c.226G> A (p.Asp76Asn) single nucleotide variant risk factor rs137852783 GRCh37 Chromosome 13, 28494501: 28494501
3 PDX1 NM_000209.3(PDX1): c.226G> A (p.Asp76Asn) single nucleotide variant risk factor rs137852783 GRCh38 Chromosome 13, 27920364: 27920364
4 PDX1 NM_000209.3(PDX1): c.670G> A (p.Glu224Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137852787 GRCh37 Chromosome 13, 28498656: 28498656
5 PDX1 NM_000209.3(PDX1): c.670G> A (p.Glu224Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137852787 GRCh38 Chromosome 13, 27924519: 27924519
6 PDX1 NM_000209.3(PDX1): c.188delC (p.Pro63Argfs) deletion Pathogenic rs193929377 GRCh37 Chromosome 13, 28494463: 28494463
7 PDX1 NM_000209.3(PDX1): c.188delC (p.Pro63Argfs) deletion Pathogenic rs193929377 GRCh38 Chromosome 13, 27920326: 27920326
8 PDX1 NM_000209.3(PDX1): c.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs387906777 GRCh37 Chromosome 13, 28498519: 28498519
9 PDX1 NM_000209.3(PDX1): c.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs387906777 GRCh38 Chromosome 13, 27924382: 27924382
10 PDX1 NM_000209.3(PDX1): c.-18C> T single nucleotide variant Conflicting interpretations of pathogenicity rs193922351 GRCh37 Chromosome 13, 28494258: 28494258
11 PDX1 NM_000209.3(PDX1): c.-18C> T single nucleotide variant Conflicting interpretations of pathogenicity rs193922351 GRCh38 Chromosome 13, 27920121: 27920121
12 PDX1 NM_000209.3(PDX1): c.-29_-23dupCTCCCGG duplication Uncertain significance rs193922352 GRCh37 Chromosome 13, 28494247: 28494253
13 PDX1 NM_000209.3(PDX1): c.-29_-23dupCTCCCGG duplication Uncertain significance rs193922352 GRCh38 Chromosome 13, 27920110: 27920116
14 PDX1 NM_000209.3(PDX1): c.162G> A (p.Leu54=) single nucleotide variant Benign/Likely benign rs28509441 GRCh37 Chromosome 13, 28494437: 28494437
15 PDX1 NM_000209.3(PDX1): c.162G> A (p.Leu54=) single nucleotide variant Benign/Likely benign rs28509441 GRCh38 Chromosome 13, 27920300: 27920300
16 PDX1 NM_000209.3(PDX1): c.318G> T (p.Pro106=) single nucleotide variant Likely benign rs193922354 GRCh37 Chromosome 13, 28494593: 28494593
17 PDX1 NM_000209.3(PDX1): c.318G> T (p.Pro106=) single nucleotide variant Likely benign rs193922354 GRCh38 Chromosome 13, 27920456: 27920456
18 PDX1 NM_000209.3(PDX1): c.442C> G (p.Arg148Gly) single nucleotide variant Likely pathogenic rs193922355 GRCh37 Chromosome 13, 28498428: 28498428
19 PDX1 NM_000209.3(PDX1): c.442C> G (p.Arg148Gly) single nucleotide variant Likely pathogenic rs193922355 GRCh38 Chromosome 13, 27924291: 27924291
20 PDX1 NM_000209.3(PDX1): c.543C> T (p.Val181=) single nucleotide variant Conflicting interpretations of pathogenicity rs75498935 GRCh37 Chromosome 13, 28498529: 28498529
21 PDX1 NM_000209.3(PDX1): c.543C> T (p.Val181=) single nucleotide variant Conflicting interpretations of pathogenicity rs75498935 GRCh38 Chromosome 13, 27924392: 27924392
22 PDX1 NM_000209.3(PDX1): c.571A> C (p.Lys191Gln) single nucleotide variant Likely pathogenic rs193922356 GRCh37 Chromosome 13, 28498557: 28498557
23 PDX1 NM_000209.3(PDX1): c.571A> C (p.Lys191Gln) single nucleotide variant Likely pathogenic rs193922356 GRCh38 Chromosome 13, 27924420: 27924420
24 PDX1 NM_000209.3(PDX1): c.726_728dupGCC (p.Pro244_Gly245insPro) duplication Conflicting interpretations of pathogenicity rs193922357 GRCh37 Chromosome 13, 28498712: 28498714
25 PDX1 NM_000209.3(PDX1): c.726_728dupGCC (p.Pro244_Gly245insPro) duplication Conflicting interpretations of pathogenicity rs193922357 GRCh38 Chromosome 13, 27924575: 27924577
26 PDX1 NM_000209.3(PDX1): c.773A> G (p.Glu258Gly) single nucleotide variant Likely pathogenic rs193922360 GRCh37 Chromosome 13, 28498759: 28498759
27 PDX1 NM_000209.3(PDX1): c.773A> G (p.Glu258Gly) single nucleotide variant Likely pathogenic rs193922360 GRCh38 Chromosome 13, 27924622: 27924622
28 PDX1 NM_000209.3(PDX1): c.502A> C (p.Asn168His) single nucleotide variant Likely pathogenic rs1555241857 GRCh37 Chromosome 13, 28498488: 28498488
29 PDX1 NM_000209.3(PDX1): c.502A> C (p.Asn168His) single nucleotide variant Likely pathogenic rs1555241857 GRCh38 Chromosome 13, 27924351: 27924351

Expression for Maturity-Onset Diabetes of the Young, Type 4

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 4.

Pathways for Maturity-Onset Diabetes of the Young, Type 4

Pathways related to Maturity-Onset Diabetes of the Young, Type 4 according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 GCK HNF1A HNF1B HNF4A PDX1
2 12.12 HNF1A HNF4A PDX1
3
Show member pathways
12.05 HNF1A HNF1B HNF4A
4 11.98 HNF1A HNF1B HNF4A
5
Show member pathways
11.65 GCK HNF1A HNF1B HNF4A PDX1
6 11.63 HNF1B PDX1
7
Show member pathways
11.58 HNF1A HNF1B HNF4A
8
Show member pathways
11.35 GCK HNF1A HNF1B HNF4A PDX1
9 11.31 GCK HNF4A
10 11.2 GCK HNF1A HNF4A PDX1
11
Show member pathways
11 GCK HNF1A HNF1B HNF4A PDX1
12 10.22 HNF1A HNF4A

GO Terms for Maturity-Onset Diabetes of the Young, Type 4

Cellular components related to Maturity-Onset Diabetes of the Young, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.1 GCK HMX1 HNF1A HNF1B HNF4A PDX1

Biological processes related to Maturity-Onset Diabetes of the Young, Type 4 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.88 HMX1 HNF1A HNF4A PDX1
2 regulation of transcription by RNA polymerase II GO:0006357 9.86 HNF1A HNF1B HNF4A PDX1
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.84 HNF1A HNF1B HNF4A PDX1
4 positive regulation of transcription, DNA-templated GO:0045893 9.8 HNF1A HNF1B HNF4A PDX1
5 liver development GO:0001889 9.61 HNF1A HNF1B PDX1
6 transcription by RNA polymerase II GO:0006366 9.58 HNF1A PDX1
7 response to glucose GO:0009749 9.58 HNF1A HNF1B HNF4A
8 glucose metabolic process GO:0006006 9.57 GCK PDX1
9 SMAD protein signal transduction GO:0060395 9.55 HNF1A HNF4A
10 regulation of insulin secretion GO:0050796 9.54 GCK HNF1A HNF4A
11 regulation of Wnt signaling pathway GO:0030111 9.52 HNF1A HNF1B
12 endocrine pancreas development GO:0031018 9.51 HNF1A PDX1
13 hepatocyte differentiation GO:0070365 9.48 HNF1B HNF4A
14 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.46 HNF1A HNF1B
15 insulin secretion GO:0030073 9.33 HNF1A HNF1B PDX1
16 detection of glucose GO:0051594 9.32 GCK PDX1
17 regulation of pronephros size GO:0035565 9.26 HNF1A HNF1B
18 pancreas development GO:0031016 9.13 HNF1A HNF1B PDX1
19 glucose homeostasis GO:0042593 8.92 GCK HNF1A HNF4A PDX1

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.72 HMX1 HNF1A HNF1B HNF4A PDX1
2 DNA-binding transcription factor activity GO:0003700 9.56 HNF1A HNF1B HNF4A PDX1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.54 HNF1A HNF4A PDX1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 HMX1 HNF1A HNF1B HNF4A PDX1
5 transcription regulatory region DNA binding GO:0044212 9.33 HNF1A HNF1B HNF4A
6 sequence-specific DNA binding GO:0043565 9.02 HMX1 HNF1A HNF1B HNF4A PDX1

Sources for Maturity-Onset Diabetes of the Young, Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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