Maturity-onset Diabetes Of The Young, Type 1; Mody1

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 gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.

Genes related to Maturity-onset Diabetes Of The Young, Type 1; Mody1

HNF4A

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Clinical Features

Phenotypes and symptoms related to Maturity-onset Diabetes Of The Young, Type 1; Mody1

Diabetes mellitus
Hypoglycemia
Type II diabetes mellitus
Hyperglycemia
Glycosuria
Flushing
Maturity-onset diabetes of the young
Beta-cell dysfunction

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 1; Mody1 Is also known as mild juvenile diabetes mellitus, mody, type 1.

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 1; Mody1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 100 %
HNF4A (MODY1) Sequencing and Deletion Test. By Athena Diagnostics Inc (United States). HNF4A Specificity 100 % Genes 100 %
Monogenic Diabetes (MODY) Four Gene Evaluation (GCK,HNF1A, HNF1B, HNF4A). By Athena Diagnostics Inc (United States). HNF1A, HNF1B, GCK, HNF4A Specificity 25 % Genes 100 %
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 100 %
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 100 %
MODY Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). BLK, HNF1A, HNF1B, KLF11, CEL, APPL1, GCK, HNF4A, ABCC8, INS, PDX1, KCNJ11, NEUROD1, PAX4 Specificity 8 % Genes 100 %
Comprehensive Familial Hyperinsulinism Panel. By Genetic Services Laboratory University of Chicago (United States). SLC16A1, HNF1A, UCP2, KDM6A, GCK, GLUD1, HADH, HNF4A, ABCC8, INSR, KCNJ11, KMT2D, PGM1, PMM2 Specificity 8 % Genes 100 %
MODY Panel. By Genetic Services Laboratory University of Chicago (United States). BLK, HNF1A, HNF1B, KLF11, CEL, APPL1, GCK, HNF4A, ABCC8, INS, PDX1, KCNJ11, NEUROD1, PAX4 Specificity 8 % Genes 100 %

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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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