×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
Biomarker
GENOMICS_ENGLAND
Mutant WD-repeat protein in triple-A syndrome.
11062474 2000
×
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
GermlineCausalMutation
ORPHANET
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
CausalMutation
CLINVAR
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
GeneticVariation
CLINVAR
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
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
CausalMutation
CLINVAR
Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin.
11701718 2001
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GermlineCausalMutation
ORPHANET
Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome.
11815731 2001
×
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
×
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
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
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
GeneticVariation
BEFREE
The triple A gene was identified recently at this locus and called ALADIN (alacrima, achalasia, adrenal insufficiency neurologic disorder ).
12429595 2002
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
CausalMutation
CLINVAR
Triple A syndrome: genotype-phenotype assessment.
12752575 2003
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
In one patient with isolated achalasia, the diagnosis of triple A syndrome could only be made on the basis of the molecular genetic analysis of the AAAS gene.
12752575 2003
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
Three children with triple A syndrome due to a mutation (R478X ) in the AAAS gene.
14646395 2004
×
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
GeneticVariation
BEFREE
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.15217518 2004
×
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
BEFREE
We conclude that a novel R155P mutation in the ALADIN gene is associated with Allgrove syndrome and that insulin-induced hypoglycemia, rather than ACTH stimulation tests, should be used for accurate diagnosis of adrenal insufficiency in this disorder.
15690314 2005
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
Triple A syndrome (AAAS , OMIM#231550) is an autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima, neurodegeneration and autonomic dysfunction.16098009 2005
×
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800
GeneticVariation
BEFREE
We identified a mutant ALADIN (I482S ) that fails to target NPC and investigated the consequences of mistargeting using cultured fibroblasts (I482S f) from a patient with triple A syndrome .
16467144 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
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