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
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
Search interest in APPL1
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 United States.
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 United States.
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 Germany.
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 Spain.
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 Spain.
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 Germany.
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