MODY4
MCID: MTR021
MIFTS: 40

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 57 53 29 6
Mody4 57 12 53 75
Mody Type 4 12 53 75
Maturity-Onset Diabetes of the Young Type 4 12 15
Mody, Type Iv 57 13
Diabetes of the Young, Maturity-Onset, Type 4 40
Maturity-Onset Diabetes of the Young, Type Iv 73
Type 4 Maturity-Onset Diabetes of the Young 53
Mody Insulin Promoter Factor-1 Related 53
Maturity-Onset Diabetes of the Young 4 75
Diabetes Mellitus Mody Type 4 53
Mody, Type 4 57
Mody-4 75

Characteristics:

HPO:

32
maturity-onset diabetes of the young, type 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 606392
Disease Ontology 12 DOID:0111103
MedGen 42 C1833382
MeSH 44 D003924
SNOMED-CT via HPO 69 263681008 609561005 44054006
UMLS 73 C1833382

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

UniProtKB/Swiss-Prot : 75 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 diabetes mellitus. 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 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 30.9 GCK HNF1A HNF1B HNF4A PDX1
2 diabetes mellitus 29.3 GCK HNF1A HNF1B HNF4A PDX1
3 intestinal atresia 10.0 GCK PDX1
4 diabetes mellitus, permanent neonatal 10.0 GCK PDX1
5 hyperinsulinemic hypoglycemia 10.0 GCK HNF4A
6 maturity-onset diabetes of the young, type 14 10.0 GCK HNF1A
7 chromophobe renal cell carcinoma 10.0 HNF1A HNF1B
8 aminoaciduria 9.9 HNF1A HNF4A
9 insulinoma 9.9 GCK PDX1
10 polycystic kidney disease 4 with or without polycystic liver disease 9.9 HNF1A HNF1B
11 autosomal genetic disease 9.9 GCK HNF1A
12 neonatal diabetes mellitus 9.9 GCK HNF1B PDX1
13 gestational diabetes 9.9 GCK HNF4A
14 hyperglycemia 9.8 GCK HNF1A PDX1
15 diabetes mellitus, insulin-dependent 9.8 GCK HNF1A PDX1
16 maturity-onset diabetes of the young, type 13 9.8 GCK HNF1A HNF4A
17 hyperinsulinism 9.8 GCK HNF4A
18 pancreatic agenesis 9.8 GCK HMX1 PDX1
19 monogenic diabetes 9.6 GCK HNF1A HNF4A PDX1
20 maturity-onset diabetes of the young, type 2 9.5 GCK HNF1A HNF1B HNF4A PDX1
21 maturity-onset diabetes of the young, type 3 9.5 GCK HNF1A HNF1B HNF4A PDX1
22 renal cysts and diabetes syndrome 9.5 GCK HNF1A HNF1B HNF4A PDX1
23 maturity-onset diabetes of the young, type 6 9.5 GCK HNF1A HNF1B HNF4A PDX1
24 maturity-onset diabetes of the young, type 1 9.5 GCK HNF1A HNF1B HNF4A PDX1
25 diabetes mellitus, noninsulin-dependent 9.5 GCK HNF1A HNF1B HNF4A PDX1
26 maturity-onset diabetes of the young, type 7 9.2 GCK HMX1 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

Clinical features from OMIM:

606392

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

32
# Description HPO Frequency HPO Source Accession
1 type ii diabetes mellitus 32 HP:0005978
2 maturity-onset diabetes of the young 32 HP:0004904

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

26
# 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:

46
# 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 29 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:

41
Liver, Kidney

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

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

# Title Authors Year
1
Genetically Targeted Dipeptidyl Peptidase-4 Inhibitor Use in a Patient with a Novel Mutation of MODY type 4. ( 26543388 )
2015
2
Pdx1 (MODY4) regulates pancreatic beta cell susceptibility to ER stress. ( 19855005 )
2009
3
A novel locus, Mody4, distal to D7Mit189 on chromosome 7 determines early-onset NIDDM in nonobese C57BL/6 (Akita) mutant mice. ( 9133560 )
1997

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 33)
# 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.725C> T (p.Pro242Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922358 GRCh37 Chromosome 13, 28498711: 28498711
25 PDX1 NM_000209.3(PDX1): c.725C> T (p.Pro242Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922358 GRCh38 Chromosome 13, 27924574: 27924574
26 PDX1 NM_000209.3(PDX1): c.726_728dupGCC (p.Pro244_Gly245insPro) duplication Conflicting interpretations of pathogenicity rs193922357 GRCh37 Chromosome 13, 28498712: 28498714
27 PDX1 NM_000209.3(PDX1): c.726_728dupGCC (p.Pro244_Gly245insPro) duplication Conflicting interpretations of pathogenicity rs193922357 GRCh38 Chromosome 13, 27924575: 27924577
28 PDX1 NM_000209.3(PDX1): c.773A> G (p.Glu258Gly) single nucleotide variant Likely pathogenic rs193922360 GRCh37 Chromosome 13, 28498759: 28498759
29 PDX1 NM_000209.3(PDX1): c.773A> G (p.Glu258Gly) single nucleotide variant Likely pathogenic rs193922360 GRCh38 Chromosome 13, 27924622: 27924622
30 PDX1 NM_000209.3(PDX1): c.97C> A (p.Pro33Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs192902098 GRCh37 Chromosome 13, 28494372: 28494372
31 PDX1 NM_000209.3(PDX1): c.97C> A (p.Pro33Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs192902098 GRCh38 Chromosome 13, 27920235: 27920235
32 PDX1 NM_000209.3(PDX1): c.502A> C (p.Asn168His) single nucleotide variant Likely pathogenic GRCh37 Chromosome 13, 28498488: 28498488
33 PDX1 NM_000209.3(PDX1): c.502A> C (p.Asn168His) single nucleotide variant Likely pathogenic 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 transcription by RNA polymerase II GO:0006366 9.76 HNF1A HNF4A PDX1
6 liver development GO:0001889 9.61 HNF1A HNF1B 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 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.58 HNF1A HNF4A PDX1
3 DNA-binding transcription factor activity GO:0003700 9.56 HNF1A HNF1B HNF4A PDX1
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.37 HNF1B HNF4A
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 HMX1 HNF1A HNF1B HNF4A PDX1
6 transcription regulatory region DNA binding GO:0044212 9.33 HNF1A HNF1B HNF4A
7 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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