APPL1 gene related symptoms and diseases

All the information presented here about the APPL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to APPL1 gene

Symptoms // Phenotype % Cases
Diabetes mellitus Very Common - Between 80% and 100% cases
Maturity-onset diabetes of the young Very Common - Between 80% and 100% cases
Hypertension Uncommon - Between 30% and 50% cases
Retinopathy Uncommon - Between 30% and 50% cases
Type II diabetes mellitus Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with APPL1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Insulin resistance
  • Overweight
  • Flushing
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Rare diseases associated to APPL1 gene

Here you will find a list of rare diseases related to the APPL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14; MODY14


Most common symptoms of MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14; MODY14

  • Diabetes mellitus
  • Maturity-onset diabetes of the young


More info about MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14; MODY14

SOURCES: OMIM

MODY


Alternate names

MODY Is also known as maturity-onset diabetes of the young, mason-type diabetes

Description

MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.

Most common symptoms of MODY

  • Hypertension
  • Diabetes mellitus
  • Retinopathy
  • Type II diabetes mellitus
  • Insulin resistance


More info about MODY

SOURCES: OMIM ORPHANET


Potential gene panels for APPL1 gene

APPL1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the APPL1 gene.

More info about this panel

MODY Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago MODY Deletion/Duplication Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL APPL1 GCK HNF4A ABCC8 INS

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

MODY Panel Panel

United States.

By Genetic Services Laboratory University of Chicago MODY Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL APPL1 GCK HNF4A ABCC8 INS

More info about this panel

MODY14 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the APPL1 gene.

More info about this panel

Maturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Maturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection that also includes the following genes: BLK HNF1A HNF1B KLF11 APPL1 GCK HNF4A ABCC8 INS PDX1

More info about this panel

Maturity Onset Diabetes of the Young (MODY) via APPL1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the APPL1 gene.

More info about this panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 14 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the APPL1 gene.

More info about this panel

DIABETES MODY & NEONATAL DIABETES : NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DIABETES MODY & NEONATAL DIABETES : NGS PANEL that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 NEUROG3 IER3IP1 ZFP57 RFX6 PTF1A

More info about this panel

Maturity-onset diabetes of the young, type 14 Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the APPL1 gene.

More info about this panel


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