×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation.
15022193 2004
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
Biomarker
BEFREE
Our in vitro data in AAAS -knockdown adrenal and neuronal cells not only corroborates previous studies implicating oxidative stress in this disorder but also provides further insights into the pathogenic mechanisms in triple A syndrome .
23825130 2013
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
Biomarker
BEFREE
AAAS codes for the WD-repeat containing ALADIN (for alacrima-achalasia-adrenal insufficiency-neurologic disorder ) protein.11701718 2001
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
Biomarker
BEFREE
It is known that ALADIN knock-out mice lack a phenotype resembling human triple A syndrome .
29362278 2018
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
We analyse long-term clinical follow-up and results of sequencing of the AAAS gene in eight patients with triple A syndrome aged from 2 to 35 years.
22538409 2012
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
UNIPROT
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.
11159947 2001
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
Biomarker
BEFREE
POMC or PC1); (2) adrenal hypoplasia as part of an ACTH resistance syndrome [MC2R/ACTH receptor, MRAP, AAAS (triple A syndrome )], and (3) primary defects in the development of the adrenal gland itself (primary adrenal hypoplasia).
17986825 2007
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
CausalMutation
CLINVAR
Triple A syndrome mimicking ALS.
18615337 2008
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
Biomarker
CTD_human
Dysphagia due to triple A syndrome: successful treatment of achalasia by balloon dilatation.
17853339 2007
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
Biomarker
BEFREE
This case adds to the clinical and molecular spectrum of triple A syndrome and may provide a new insight into the functions of AAAS gene.
16543750 2006
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
Biomarker
BEFREE
Our data show that the lack of ALADIN in mice does not lead to a triple A syndrome -like disease.
16479006 2006
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome .
27414811 2016
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
This is the first report of a triple A syndrome patient with a homozygous deletion of the entire AAAS gene.
31071487 2019
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
CLINVAR
AAA syndrome--adrenal insufficiency, alacrima and achalasia.
21865313 2012
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome .
20200814 2010
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
Allgrove syndrome is characterized by mutation(s) in AAAS gene, located on chromosome 12q13, that codes for ALADIN protein.20687490 2010
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.
16609705 2006
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
Biomarker
CTD_human
In order to investigate the changes in differential gene expression in ALADIN -deficient or mutated cells under oxidative stress we used fibroblast cell cultures of triple A syndrome patients and compared these to controls.
23315990 2013
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
We performed mutational screening of the AAAS gene in a Greek family of four individuals, including an affected propositus with typical symptoms of late-onset triple A syndrome .
23073554 2013
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
CausalMutation
CLINVAR
The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.
15666842 2004
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
CLINVAR
Clinical and genetic characterization of families with triple A (Allgrove) syndrome.
12429595 2002
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
In the present study, we analyzed the AAAS gene in a Japanese patient with triple A syndrome .
12008750 2002
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
CausalMutation
CLINVAR
Clinical and genetic characterization of families with triple A (Allgrove) syndrome.
12429595 2002
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
CausalMutation
CLINVAR
Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.
16609705 2006
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
We describe the neurologic phenotype of the first adult case of 3A syndrome presenting bulbospinal amyotrophy as the prominent sign in association with a homozygous nonsense mutation identified in the AAAS gene.
11914417 2002