AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease BEFREE This is the first report of a triple A syndrome patient with a homozygous deletion of the entire AAAS gene. 31071487 2019
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease BEFREE Here, we explored the consequences of the homozygous AAAS mutation c.464G>A (p.R155H) in central nervous system tissues and fibroblasts of a novel AS patient presenting motor neuron disease, cerebellar ataxia, and autonomic dysfunction. 31600784 2019
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 Biomarker disease BEFREE It is known that ALADIN knock-out mice lack a phenotype resembling human triple A syndrome. 29362278 2018
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease BEFREE Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report. 29866068 2018
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease BEFREE Whole exome sequencing revealed bi-allelic AAAS nonsense mutations; one individual was homozygous for the p.(Arg478*) mutation, and two siblings were homozygous for the p.(Arg286*) mutation, leading to the diagnosis of triple A syndrome. 30381913 2018
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease 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
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease BEFREE Two unrelated families clinically diagnosed with Allgrove syndrome were evaluated for sequence variations in the AAAS gene. 26595337 2016
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease BEFREE Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty. 25781531 2015
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 Biomarker disease 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
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 Biomarker disease 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
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease 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
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease BEFREE Clinical and genetic characterization of a Chinese patient with triple A syndrome and novel compound heterozygous mutations in the AAAS gene. 23327820 2013
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease 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
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease CLINVAR AAA syndrome--adrenal insufficiency, alacrima and achalasia. 21865313 2012
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 CausalMutation disease CLINVAR Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. 22538409 2012
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 CausalMutation disease CLINVAR AAA syndrome--adrenal insufficiency, alacrima and achalasia. 21865313 2012
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease BEFREE Five unrelated families clinically diagnosed with Allgrove Syndrome were evaluated for sequence variations in the AAAS gene. 21565631 2011
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease BEFREE Sequencing of the AAAS gene causing autosomal recessive Triple A syndrome did not reveal mutations. 21744492 2011
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease BEFREE Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome. 20200814 2010
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease BEFREE Allgrove syndrome is characterized by mutation(s) in AAAS gene, located on chromosome 12q13, that codes for ALADIN protein. 20687490 2010
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GermlineCausalMutation disease ORPHANET Triple A syndrome is caused by mutations in the gene encoding ALADIN, leading to achalasia, alacrima and addisonism. 20674935 2010
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 Biomarker disease BEFREE The ALADIN protein (for alacrima/achalasia/adrenal insufficiency/neurologic disorder) was identified as the molecular basis of triple A syndrome. 20374727 2009
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease BEFREE Triple A syndrome is a rare genetic disorder caused by mutations in the achalasia-addisonianism-alacrima syndrome (AAAS) gene which encodes a tryptophan aspartic acid (WD) repeat-containing protein named alacrima-achalasia-adrenal insufficiency neurologic disorder (ALADIN). 19322026 2009
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation disease BEFREE Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene. 19172511 2009