Achalasia-Addisonianism-Alacrima Syndrome (AAAS)

Alias:

Allgrove Syndrome

Achalasia-Addisonianism-Alacrimia Syndrome

Triple-a Syndrome

Triple a Syndrome

Aaa Syndrome

Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder

Glucocorticoid Deficiency with Achalasia

Aaas

Adrenal Insufficiency-Achalasia-Alacrima Syndrome

Glucocorticoid Deficiency and Achalasia

Alacrima-Achalasia-Addisonianism

Addisonian-Achalasia Syndrome

Hypoadrenalism with Achalasia

Achalasia-Alacrima Syndrome

Quaternary a Syndrome

Double a Syndrome

2a Syndrome

3a Syndrome

4a Syndrome

Acth-Resistant Adrenal Insufficiency with Achalasia and Alacrima

Acth-Resistant Adrenal Insufficiency, Achalasia and Alacrima

Adrenal Cortical Hypofunction

Achalasia-Addisonian Syndrome

Adrenal Gland Hypofunction

Allgrove's Syndrome

Aaa

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Achalasia-Addisonianism-Alacrima Syndrome, also known as allgrove syndrome, is related to congenital nervous system abnormality and familial glucocorticoid deficiency, and has symptoms including ataxia and muscle weakness. An important gene associated with Achalasia-Addisonianism-Alacrima Syndrome is AAAS (Aladin WD Repeat Nucleoporin), and among its related pathways/superpathways are Gene expression (Transcription) and Infectious disease. The drugs Racepinephrine and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland and eye, and related phenotypes are seizure and achalasia

Related ID：

MALACARDS：ACH022

OMIM：231550

MESH：D000309