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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… 
National Institutes of Health

Related topics

Related topics

17 relations
AAAS geneAAAS, LEU430PHEAPP geneAchalasia

Broader (2)

Adrenal gland hypofunctionEsophageal Achalasia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes
Objective  ACTH resistance is a feature of several human syndromes with known genetic causes, including familial glucocorticoid… 
2007
2007
Can Local Secretion of Prostaglandin E2, Thromboxane B2, and Interleukin-6 Play a Role in Ruptured Abdominal Aortic Aneurysm?
BackgroundOur laboratory has previously shown that the levels of secreted prostaglandin E2 (PGE2), Thromboxane B2 (TxB2), and… 
2006
2006
Allgrove syndrome with features of familial dysautonomia: A novel mutation in the AAAS gene
Allgrove syndrome (or triple‐A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal… 
2000
2000
Xerostomia in patients with triple A syndrome – a newly recognised finding
Abstract Triple A syndrome is characterised by achalasia, alacrima, adrenal insufficiency and progressive neurological… 
1998
1998
Esophageal achalasia compressing the heart diagnosed by echocardiography.
1991
1991
Reevaluation of manometric criteria for vigorous achalasia
Clinical and manometric data from 97 consecutive patients with idiopathic achalasia were analyzed to see if a distinct subset… 
1983
1983
Barrett's metaplasia and dysplasia in postmyotomy achalasia patients.
Three patients who were 8 to 30 years status postmyotomy for achalasia were shown to develop Barrett's columnar metaplasia of the… 
1970
1970
LOW SERUM B12 LEVELS AND LATENT ADDISONIAN ANAEMIA IN PREGNANCY
Investigation of B12 status during pregnancy in 518 women with anaemia or with a history of previous severe anaemia indicates… 
Review
1967
Review
1967
ADDISON'S DISEASE AND ADDISONIAN ANÆMIA
1965
1965
Addison's Disease with Vitiligo, Addisonian Anæmia, Primary Hypothyroidism and Diabetes Mellitus
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