Achalasia-Addisonianism-Alacrima Syndrome
OMIM:231550Mode of inheritance:Autosomal recessive
Disease classification:Mental and behavioural disorders
Mutations
| Gene Symbol | AAAS |
|---|---|
| Reference transcript | NM_015665.5 |
| DNA Change | c.1024C>T |
| A.A. Change | p.Arg342Stop |
| Exon/Intron | exon 11 |
| Mutation Type | substitution |
| Reference | Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A.Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet. 2001 Feb 1;10(3):283-90. |