Maturity-onset Diabetes Of The Young, Type 4; Mody4

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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.

Genes related to Maturity-onset Diabetes Of The Young, Type 4; Mody4

PDX1
PLUT

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Clinical Features

Phenotypes and symptoms related to Maturity-onset Diabetes Of The Young, Type 4; Mody4

Type II diabetes mellitus
Maturity-onset diabetes of the young

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Maturity-onset Diabetes Of The Young, Type 4; Mody4 Is also known as mody, type 4.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Maturity-onset Diabetes Of The Young, Type 4; Mody4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neonatal Diabetes Mellitus Evaluation. By Athena Diagnostics Inc (United States). GCK, ABCC8, INS, PDX1, KCNJ11 Specificity 20 % Genes 50 %
Monogenic Diabetes (MODY) Five Gene Evaluation (GCK,HNF1A,HNF1B,HNF4A,IPF1). By Athena Diagnostics Inc (United States). HNF1A, HNF1B, GCK, HNF4A, PDX1 Specificity 20 % Genes 50 %
IPF1 (MODY4) DNA Sequencing Test. By Athena Diagnostics Inc (United States). PDX1 Specificity 100 % Genes 50 %
IPF1 (NDM) DNA Sequencing Test. By Athena Diagnostics Inc (United States). PDX1 Specificity 100 % Genes 50 %
Maturity-Onset Diabetes of the Young. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). BLK, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, NEUROG3, IER3IP1, RFX6, CP, PTF1A, CISD2, GLIS3, EIF2AK3, AKT2, GATA6, GCK, HNF4A, ABCC8, INS , (...) View the complete list with 5 more genes Panel complete gene list BLK, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, NEUROG3, IER3IP1, RFX6, CP, PTF1A, CISD2, GLIS3, EIF2AK3, AKT2, GATA6, GCK, HNF4A, ABCC8, INS, FOXP3, PDX1, KCNJ11, NEUROD1, PAX4 Specificity 4 % Genes 50 %
Maturity-onset Diabetes of the Young Panel. By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States). BLK, HNF1A, HNF1B, KLF11, CEL, AKT2, GCK, HNF4A, ABCC8, INS, INSR, PDX1, KCNJ11, NEUROD1, PAX4 Specificity 7 % Genes 50 %
PDX1 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). PDX1 Specificity 100 % Genes 50 %
PDX1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). PDX1 Specificity 100 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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