triple-A syndrome

Summary
Synonym
  • AAAS
  • Achalasia-Addisonianism-Alacrimia syndrome
  • Allgrove Syndrome
Definition
A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system.
Super Class
autosomal recessive disease syndrome
Disease Ontology
DOID:0050602
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8086 AAAS aladin WD repeat nucleoporin
The Human Phenotype Ontology
Displaying entries 11 - 20 of 22 in total
HPO ID HPO Term
HP:0001761 Pes cavus
HP:0000252 Microcephaly
HP:0002093 Respiratory insufficiency
HP:0000846 Adrenal insufficiency
HP:0007002 Motor axonal neuropathy
HP:0000505 Visual impairment
HP:0001252 Hypotonia
HP:0007556 Plantar hyperkeratosis
HP:0001250 Seizure
HP:0002571 Achalasia
Displaying 1 entry
Gene ID Gene Symbol Description
29926 GMPPA GDP-mannose pyrophosphorylase A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024