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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… Expand
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

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
Per-oral Endoscopic Myotomy (POEM) After the Learning Curve: Durable Long-term Results With a Low Complication Rate
Objective: We aimed to report long-term outcomes for patients undergoing per-oral endoscopic myotomy (POEM) after our initial 15… Expand
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Highly Cited
2014
Highly Cited
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… Expand
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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… Expand
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Highly Cited
2003
Highly Cited
2003
The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome
Triple A syndrome is a human autosomal recessive disorder characterized by an unusual array of tissue-specific defects. Triple A… Expand
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Highly Cited
2003
Highly Cited
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… Expand
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Highly Cited
2001
Highly Cited
2001
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.
The triple A syndrome (MIM 231550) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia and… Expand
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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… Expand
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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… Expand
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Highly Cited
1999
Highly Cited
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… Expand
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Highly Cited
1991
Highly Cited
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… Expand
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