MCID: MTR021
MIFTS: 22

Maturity-Onset Diabetes of the Young, Type 4

Categories: Genetic diseases, Rare diseases, Liver diseases, Endocrine diseases, Neuronal 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
Mody, Type Iv 57 13
Diabetes of the Young, Maturity-Onset, Type 4 40
Maturity-Onset Diabetes of the Young, Type Iv 73
Maturity-Onset Diabetes of the Young Type 4 12
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). Related phenotypes are maturity-onset diabetes of the young and type ii diabetes mellitus

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

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 maturity-onset diabetes of the young 32 HP:0004904
2 type ii diabetes mellitus 32 HP:0005978

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

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

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 15)
# 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.188delC (p.Pro63Argfs) deletion Pathogenic rs193929377 GRCh37 Chromosome 13, 28494463: 28494463
5 PDX1 NM_000209.3(PDX1): c.188delC (p.Pro63Argfs) deletion Pathogenic rs193929377 GRCh38 Chromosome 13, 27920326: 27920326
6 PDX1 NM_000209.3(PDX1): c.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs387906777 GRCh37 Chromosome 13, 28498519: 28498519
7 PDX1 NM_000209.3(PDX1): c.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs387906777 GRCh38 Chromosome 13, 27924382: 27924382
8 PDX1 NM_000209.3(PDX1): c.442C> G (p.Arg148Gly) single nucleotide variant Likely pathogenic rs193922355 GRCh37 Chromosome 13, 28498428: 28498428
9 PDX1 NM_000209.3(PDX1): c.442C> G (p.Arg148Gly) single nucleotide variant Likely pathogenic rs193922355 GRCh38 Chromosome 13, 27924291: 27924291
10 PDX1 NM_000209.3(PDX1): c.571A> C (p.Lys191Gln) single nucleotide variant Likely pathogenic rs193922356 GRCh37 Chromosome 13, 28498557: 28498557
11 PDX1 NM_000209.3(PDX1): c.571A> C (p.Lys191Gln) single nucleotide variant Likely pathogenic rs193922356 GRCh38 Chromosome 13, 27924420: 27924420
12 PDX1 NM_000209.3(PDX1): c.773A> G (p.Glu258Gly) single nucleotide variant Likely pathogenic rs193922360 GRCh37 Chromosome 13, 28498759: 28498759
13 PDX1 NM_000209.3(PDX1): c.773A> G (p.Glu258Gly) single nucleotide variant Likely pathogenic rs193922360 GRCh38 Chromosome 13, 27924622: 27924622
14 PDX1 NM_000209.3(PDX1): c.502A> C (p.Asn168His) single nucleotide variant Likely pathogenic GRCh37 Chromosome 13, 28498488: 28498488
15 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

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

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

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69 SNOMED-CT via HPO
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