Deutsch
IllnessTriple-A syndrome
Summary
Short information
Guideline-curated single gene sequence analysis according to the clinical suspicion Triple-A syndrome
ID
TS0350
Number of genes
1
Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| AAAS | 1641 | NM_015665.6 | AR |
Informations about the disease
Clinical Comment
Multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction + neurodegeneration
Synonyms
- Sympt.: Achalasia-addisonianism-alacrima syndrome; AAAS
- Alias: Adrenal insufficiency-achalasia-alacrima syndrome (AAAS)
- Alias: Allgrove syndrome (AAAS)
- Aliases: 2A syndrome; 3A syndrome; 4A syndrome; AAA syndrome (AAAS)
- Aliases: Double A syndrome; Quaternary A syndrome (AAAS)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined