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.

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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

AAAS gene related symptoms and diseases

Top 5 symptoms associated to AAAS gene

Other less frequent symptoms

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Accelerate your rare disease diagnosis with us

Rare diseases associated to AAAS gene

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS

Alternate names

Description

Most common symptoms of ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; 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

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