Details of Disease

General Information of Disease (ID: DISN46VD)

Disease Name Maturity-onset diabetes of the young type 4
Synonyms
MODY, type 4; diabetes mellitus MODY type 4; type 4 maturity-onset diabetes of the young; maturity-onset diabetes of the young, type 4; MODY insulin promoter factor-1 related; maturity-onset diabetes of the young (disease) caused by mutation in PDX1; PDX1-associated monogenic diabetes; maturity onset diabetes of the Young, type 4; MODY type 4; MODY, type IV; MODY4; PDX1 maturity-onset diabetes of the young (disease)
Definition Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.
Disease Hierarchy
DISG75M5: Maturity-onset diabetes of the young
DISN46VD: Maturity-onset diabetes of the young type 4
Disease Identifiers
MONDO ID
MONDO_0011667
MESH ID
C563451
UMLS CUI
C1833382
OMIM ID
606392
MedGen ID
318863
SNOMED CT ID
609571007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDX1 TT8SGZK Disputed Biomarker [1]
PDX1 TT8SGZK Definitive Autosomal dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDHX OTG7O271 Definitive Genetic Variation [3]
PDX1 OTX1DKRA Definitive Autosomal dominant [2]
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References

1 PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.Clin Genet. 2018 Feb;93(2):382-386. doi: 10.1111/cge.13044. Epub 2017 Jul 19.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 Pancreas duodenum homeobox-1 regulates pancreas development during embryogenesis and islet cell function in adulthood.Eur J Endocrinol. 2002 Feb;146(2):129-41. doi: 10.1530/eje.0.1460129.