Maturity-onset diabetes of the young type 4

MONDO:0011667

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.

Also known as: MODY, type IV, MODY4, PDX1 maturity-onset diabetes of the young (disease), PDX1-associated monogenic diabetes, maturity onset diabetes of the Young, type 4, maturity-onset diabetes of the young (disease) caused by mutation in PDX1, MODY insulin promoter factor-1 related, MODY, type 4

36 clinical trials for this condition and its sub-types, 1 tagged with Maturity-onset diabetes of the young type 4 itself.

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Where it sits in the disease tree

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Including sub-types (36) Tagged with Maturity-onset diabetes of the young type 4 (1)

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Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Maturity-onset diabetes of the young type 4

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth