AAAS gene related symptoms and diseases

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.

Top 5 symptoms associated to AAAS gene



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

Other less frequent symptoms

Patients with AAAS gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Tachycardia

Not very common - Between 30% and 50% cases

Hypotension

Commonly - More than 50% cases

Neurodegeneration

Not very common - Between 30% and 50% cases

Tetraparesis

Commonly - More than 50% cases

Hyperpigmentation of the skin

Not very common - Between 30% and 50% cases

Leukodystrophy

Commonly - More than 50% cases

Childhood onset

Not very common - Between 30% and 50% cases

Spastic tetraparesis

And 49 more phenotypes.

Mendelian

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Rare diseases associated to AAAS gene

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

Alternate names

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

Description

Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.

Most common symptoms of ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


More info about ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS

SOURCES: ORPHANET OMIM

Potential gene panels for AAAS gene

Ataxia Exome Panel Panel

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 panel

AAAS Gene Sequencing Panel

By GeneDx in United States.

This panel specifically test the AAAS gene.

More info about this panel

Triple A syndrome (sequence analysis of AAAS gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the AAAS gene.

More info about this panel

Neuropathy Panel

By 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 panel

Neurogenetic Disorders - panels Panel

By 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 panel

Achalasia addisonianism alacrimia syndrome Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the AAAS gene.

More info about this panel

Achalasia addisonianism alacrimia syndrome Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the AAAS gene.

More info about this panel

AllNeuro panel Panel

By 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 panel

Single gene testing AAAS Panel

By CeGaT GmbH in Germany.

This panel specifically test the AAAS gene.

More info about this panel

AAAS-ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME Panel

By GGA - Galil Genetic Analysis in Israel.

This panel specifically test the AAAS gene.

More info about this panel

Allgrove syndrome: AAAS gene screening Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

This panel specifically test the AAAS gene.

More info about this panel

Allgrove syndrome: AAAS gene sequence analysis Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

This panel specifically test the AAAS gene.

More info about this panel

Achalasia: Sequencing Panel Panel

By 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 panel

Parkinson-Alzheimer-Dementia NGS Panel Panel

By 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 panel

Nuclear-Mito NGS Panel Panel

By 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 panel

AAAS Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the AAAS gene.

More info about this panel

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS Panel

By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran.

This panel specifically test the AAAS gene.

More info about this panel

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS Panel

By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran.

This panel specifically test the AAAS gene.

More info about this panel

TRIPLE-A SYNDROME Panel

By Laboratorio de Genetica Clinica SL in Spain.

This panel specifically test the AAAS gene.

More info about this panel

Allgrove Syndrome, Sequencing AAAS Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the AAAS gene.

More info about this panel

Allgrove Syndrome, Mutations (C.43C >T; IVS11 + 1G>A, IVS14 + 1G>A) AAAS Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the AAAS gene.

More info about this panel


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