Glucocorticoid deficiency with achalasia

Known as: ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER, ACHALASIA-ALACRIMA SYNDROME, Infantile achalasia with alacrima 
A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused in some cases by mutations in the AAAS gene on chromosome 12… (More)
National Institutes of Health

Related topics

Related topics

17 relations
AAAS geneAAAS, LEU430PHEAPP geneAchalasia
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Broader (2)

Adrenal gland hypofunctionEsophageal Achalasia

Papers overview

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Review
2015
Review
2015
Peroral endoscopic myotomy: an evolving treatment for achalasia
Peroral endoscopic myotomy (POEM) was first performed in Japan in 2008 for uncomplicated achalasia. With excellent results, it… (More)
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2014
2014
Results of the United States multicenter prospective study evaluating the Zenith fenestrated endovascular graft for treatment of juxtarenal abdominal aortic aneurysms.
OBJECTIVE This study reports the results of a prospective, multicenter trial designed to evaluate the safety and effectiveness of… (More)
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Review
2012
Review
2012
Pathogenesis of achalasia cardia.
Achalasia cardia is one of the common causes of motor dysphagia. Though the disease was first described more than 300 years ago… (More)
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2010
2010
Intracellular ROS level is increased in fibroblasts of triple A syndrome patients
Triple A syndrome is named after the main symptoms of alacrima, achalasia, and adrenal insufficiency but also presents with a… (More)
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2006
2006
ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome.
Triple A syndrome is an autosomal recessive neuroendocrinological disease caused by mutations in a gene that encodes 546 amino… (More)
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2003
2003
Triple A syndrome: genotype-phenotype assessment.
The triple A or Allgrove syndrome is an autosomal-recessive disease (MIM*231550) characterized by the triad of achalasia… (More)
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Highly Cited
2001
Highly Cited
2001
Manometric heterogeneity in patients with idiopathic achalasia.
BACKGROUND & AIMS In certain cases of achalasia, particularly those in early stages with minimal endoscopic or radiographic… (More)
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Highly Cited
2000
Highly Cited
2000
Mutant WD-repeat protein in triple-A syndrome
Triple-A syndrome (MIM 231550; also known as Allgrove syndrome) is an autosomal recessive disorder characterized by… (More)
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1999
1999
Association of HLA-DR and -DQ alleles with idiopathic achalasia.
BACKGROUND & AIMS Idiopathic achalasia is a motility disorder of the esophagus characterized by incomplete relaxation of the… (More)
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1991
1991
Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima.
Allgrove syndrome (isolated glucocorticoid deficiency, achalasia and alacrima) was found in eight members of an inbred French… (More)
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