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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in AAAS

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

AAAS gene related symptoms and diseases

Top 5 symptoms and clinical features associated to AAAS gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to AAAS gene

TRIPLE A SYNDROME

Alternate names

Description

Most common symptoms of TRIPLE A SYNDROME

Search interest in AAAS

Potential gene panels for AAAS gene

Ataxia Exome Panel Panel

AAAS Gene Sequencing Panel

Triple A syndrome (sequence analysis of AAAS gene) Panel

Neuropathy Panel

Neurogenetic Disorders - panels Panel

Achalasia addisonianism alacrimia syndrome Panel

Achalasia addisonianism alacrimia syndrome Panel

AllNeuro panel Panel

Single gene testing AAAS Panel

AAAS-ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME Panel

Allgrove syndrome: AAAS gene screening Panel

Allgrove syndrome: AAAS gene sequence analysis Panel

Achalasia: Sequencing Panel Panel

Parkinson-Alzheimer-Dementia NGS Panel Panel

Nuclear-Mito NGS Panel Panel

AAAS Panel

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS Panel

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS Panel

TRIPLE-A SYNDROME Panel

Allgrove Syndrome, Sequencing AAAS Gene Panel

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