All the information presented here about the AAAS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE.
Symptoms // Phenotype | % Cases |
---|---|
Autosomal recessive inheritance | Very Common - Between 80% and 100% cases |
Ectopic kidney | Very Common - Between 80% and 100% cases |
Palmoplantar keratoderma | Very Common - Between 80% and 100% cases |
Polyneuropathy | Very Common - Between 80% and 100% cases |
Parkinsonism | Very Common - Between 80% and 100% cases |
And 49 more phenotypes.
Here you will find a list of rare diseases related to the AAAS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS Is also known as triple-a syndrome, alacrima-achalasia-adrenal insufficiency neurologic disorder, glucocorticoid deficiency and achalasia, allgrove syndrome, addisonian-achalasia syndrome, hypoadrenalism with achalasia, alacrima-achalasia-addisonianism, acth-resistant adrenal insufficiency, achalasia and alacrima;2a syndrome; 3a syndrome; 4a syndrome; aaa syndrome; achalasia-addisonianism-alacrima syndrome; adrenal insufficiency-achalasia-alacrima syndrome; allgrove syndrome; double a syndrome; quaternary a syndrome
Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.
By Genetic Services Laboratory University of Chicago in United States. Ataxia Exome Panel that also includes the following genes: FMR1 TTR UBE3A AARS2 ABHD12 PC UQCRQ UQCRB HLCS BTD
More info about this panelBy GeneDx in United States.
This panel specifically test the AAAS gene.
More info about this panelBy CGC Genetics in Portugal.
This panel specifically test the AAAS gene.
More info about this panelBy MGZ Medical Genetics Center in Germany. Neuropathy that also includes the following genes: TTR ABHD12 ATP7A C12orf65 GAA FBLN5 OPTN AMACR POLG GARS
More info about this panelBy MGZ Medical Genetics Center in Germany. Neurogenetic Disorders - panels that also includes the following genes: MTHFR TTR UBE3A AARS2 ABHD12 ACAD9 ACADM ACADS AGL ACADVL
More info about this panelBy Centogene AG - the Rare Disease Company in Germany.
This panel specifically test the AAAS gene.
More info about this panelBy Centogene AG - the Rare Disease Company in Germany.
This panel specifically test the AAAS gene.
More info about this panelBy Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: F2 F5 FMR1 HTT HFE MTHFR TTR UBE3A VHL PTEN
More info about this panelBy CeGaT GmbH in Germany.
This panel specifically test the AAAS gene.
More info about this panelBy GGA - Galil Genetic Analysis in Israel.
This panel specifically test the AAAS gene.
More info about this panelBy GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
This panel specifically test the AAAS gene.
More info about this panelBy GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
This panel specifically test the AAAS gene.
More info about this panelBy EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Achalasia: Sequencing Panel that also includes the following genes: FLVCR1 AIRE ACTB AAAS GUCY1A1 GMPPA
More info about this panelBy Fulgent Genetics Fulgent Genetics in United States. Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: TYROBP APP PSEN1 POLG HTRA2 GRN PARK7 PINK1 PRKN SNCB
More info about this panelBy Fulgent Genetics Fulgent Genetics in United States. Nuclear-Mito NGS Panel that also includes the following genes: HTT UBE3A MUTYH TP53 MCCC1 MCCC2 AARS2 ACACA ACAD9 ACADL
More info about this panelBy Fulgent Genetics Fulgent Genetics in United States.
This panel specifically test the AAAS gene.
More info about this panelBy Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran.
This panel specifically test the AAAS gene.
More info about this panelBy Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran.
This panel specifically test the AAAS gene.
More info about this panelBy Laboratorio de Genetica Clinica SL in Spain.
This panel specifically test the AAAS gene.
More info about this panelBy Reference Laboratory Genetics in Spain.
This panel specifically test the AAAS gene.
More info about this panelBy Reference Laboratory Genetics in Spain.
This panel specifically test the AAAS gene.
More info about this panel