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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
External Links
- Disease Ontology
- DOID:0050602
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95470 | Sphingosine-1-phosphate lyase 1 | |
| Q96IJ6 | Mannose-1-phosphate guanyltransferase alpha |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000982 | Palmoplantar keratoderma |
| HP:0002376 | Developmental regression |
| HP:0000612 | Iris coloboma |
| HP:0007440 | Generalized hyperpigmentation |
| HP:0001347 | Hyperreflexia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0004322 | Short stature |
| HP:0001251 | Ataxia |
| HP:0010486 | Abnormality of the hypothenar eminence |
| HP:0000830 | Anterior hypopituitarism |
