MODY4
MCID: MTR021
MIFTS: 21

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

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MalaCards based summary: Maturity-Onset Diabetes of the Young, Type 4, also known as type 4 maturity-onset diabetes of the young, is related to diabetes mellitus and pancreatitis, and has symptoms including An important gene associated with Maturity-Onset Diabetes of the Young, Type 4 is PDX1 (pancreatic and duodenal homeobox 1).

Description from OMIM:46 606392

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

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Maturity-Onset Diabetes of the Young, Type 4, Aliases & Descriptions:

Name: Maturity-Onset Diabetes of the Young, Type 4 42 62
Type 4 Maturity-Onset Diabetes of the Young 42 20 22
Maturity-Onset Diabetes of the Young, Type Iv 62
Mody Insulin Promoter Factor-1 Related 42
 
Diabetes Mellitus Mody Type 4 42
Mody, Type Iv 46
Mody Type 4 42
Mody4 42


Classifications:



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

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

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Clinical features from OMIM:

606392

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

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 type ii diabetes mellitus HP:0005978

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

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Drug clinical trials:

Search ClinicalTrials for Maturity-Onset Diabetes of the Young, Type 4

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

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

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

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Type 420 PDX1
2 Maturity-Onset Diabetes of the Young, Type 422

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

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Animal Models for Maturity-Onset Diabetes of the Young, Type 4 or affiliated genes

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

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

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UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 4:

64
id Symbol AA change Variation ID SNP ID
1PDX1p.Cys18ArgVAR_009309
2PDX1p.Gln59LeuVAR_009310
3PDX1p.Arg197HisVAR_009312

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

6
id Gene Name Type Significance SNP ID Assembly Location
1PDX1NM_000209.3(PDX1): c.442C> G (p.Arg148Gly)single nucleotide variantLikely pathogenicrs193922355GRCh37Chr 13, 28498428: 28498428
2PDX1NM_000209.3(PDX1): c.571A> C (p.Lys191Gln)single nucleotide variantLikely pathogenicrs193922356GRCh37Chr 13, 28498557: 28498557
3PDX1NM_000209.3(PDX1): c.725C> T (p.Pro242Leu)single nucleotide variantLikely pathogenicrs193922358GRCh37Chr 13, 28498711: 28498711
4PDX1NM_000209.3(PDX1): c.773A> G (p.Glu258Gly)single nucleotide variantLikely pathogenicrs193922360GRCh37Chr 13, 28498759: 28498759
5PDX1PDX1, 1-BP DEL, 188CdeletionPathogenic
6PDX1NM_000209.3(PDX1): c.226G> A (p.Asp76Asn)single nucleotide variantrisk factorrs137852783GRCh37Chr 13, 28494501: 28494501

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

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Expression patterns in normal tissues for genes affiliated with 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 genes affiliated with Maturity-Onset Diabetes of the Young, Type 4

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Compounds for genes affiliated with Maturity-Onset Diabetes of the Young, Type 4

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

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Products for genes affiliated with Maturity-Onset Diabetes of the Young, Type 4

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  • Antibodies
  • Proteins
  • Lysates

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet