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: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AAAS gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Ectopic kidney Very Common - Between 80% and 100% cases
Neurodegeneration Very Common - Between 80% and 100% cases
Polyneuropathy Very Common - Between 80% and 100% cases
Palmoplantar keratoderma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AAAS gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Parkinsonism
  • Hypotension
  • Tetraparesis
  • Hyperpigmentation of the skin
  • Abnormal autonomic nervous system physiology
  • Spastic tetraparesis
  • Palmoplantar hyperkeratosis
  • Oral-pharyngeal dysphagia

And 49 more phenotypes, you can get all of them using our tools for rare diseases.

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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.


TRIPLE A SYNDROME


Alternate names

TRIPLE A SYNDROME Is also known as glucocorticoid deficiency and achalasia, quaternary a syndrome, addisonian-achalasia syndrome, achalasia-addisonianism-alacrima syndrome, alacrima-achalasia-adrenal insufficiency neurologic disorder, 2a syndrome, 3a syndrome, adrenal insufficiency-achalasia-alac

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 TRIPLE A SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


More info about TRIPLE A SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for AAAS gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

AAAS Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the AAAS gene.

More info about this panel

Triple A syndrome (sequence analysis of AAAS gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AAAS gene.

More info about this panel

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Achalasia addisonianism alacrimia syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AAAS gene.

More info about this panel

Achalasia addisonianism alacrimia syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AAAS gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Single gene testing AAAS Panel

Germany.

By CeGaT GmbH

This panel specifically test the AAAS gene.

More info about this panel

AAAS-ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the AAAS gene.

More info about this panel

Allgrove syndrome: AAAS gene screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the AAAS gene.

More info about this panel

Allgrove syndrome: AAAS gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the AAAS gene.

More info about this panel

Achalasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achalasia: Sequencing Panel that also includes the following genes: ACTB AAAS GMPPA FLVCR1 AIRE GUCY1A1

More info about this panel

Parkinson-Alzheimer-Dementia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

AAAS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AAAS gene.

More info about this panel

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS Panel

Iran.

By Genomic Research Center Shahid Beheshti University of Medical Sciences

This panel specifically test the AAAS gene.

More info about this panel

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS Panel

Iran.

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

This panel specifically test the AAAS gene.

More info about this panel

TRIPLE-A SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the AAAS gene.

More info about this panel

Allgrove Syndrome, Sequencing AAAS Gene Panel

Spain.

By Reference Laboratory Genetics

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

Spain.

By Reference Laboratory Genetics

This panel specifically test the AAAS gene.

More info about this panel


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