Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Achalasia of the esophagus is rare in children. The authors report eight cases and emphasize two atypical clinical records: The first one is a 3 month-old infant with respiratory distress and "near miss" Sudden Death Infant Syndrome. The second one is a ten year-old boy with association of achalasia of the esophagus, ACTH insensibility and alacryma. Theses cases are discussed.
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PMID:[Idiopathic achalasia of the esophagus in children. Report of 8 cases]. 221 98

A 7-month-old dystrophic infant weighing 3.8 kg was investigated endoscopically in relation to recurrent pneumonia. A tracheo-esophageal cleft was demonstrated. The situation was complicated by the coexistence of achalasia of the cardia. There was also hypertelorism and malformation of the urinary tract, so that this would appear to be a case of the G-Syndrome. A Heller's operation with fundoplication and gastrostomy was performed and only after this was the tracheooesophageal cleft closed. A flap of sternomastoid muscle was interposed between the trachea and oesophagus. Stenosis was treated by dilatation.
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PMID:[Laryngo-tracheo-oesophageal cleft and G-syndrome--interposition of a flap from the sternocleidomastoid muscle (author's transl)]. 728 28

Achalasia is very uncommon in children. It is still more when it is associated with alacrima and adrenal insufficiency, a disorder known as Allgrove's Syndrome (Triple-A-Syndrome). This paper describes a 21-years-old man with lack of lacrimation, achalasia and glucocorticoid deficiency. Additional features included: Hyperreflexia, pes cavus, muscle weakness, and nasal speech. Indicating that the disorder has a wide spectrum of clinical manifestations. This case has been diagnosed at adulthood.
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PMID:[Allgrove syndrome (achalasia-alacrima-adrenal gland insufficiency): report of a case]. 892 56

Achalasia is the best described motor disorder of the esophagus. Associations with familial glucocorticoid deficiency and alacrima (triple A syndrome) have been described in the pediatric population, but no attention has been paid to the possibility of this association in adults. Tear production was assessed in 20 patients with achalasia and 20 age- and sex-matched controls. Deficient tears were found in four achalasics compared with none among the controls (P < 0.05). This suggests that some variant of the triple A Syndrome (achalasia, alacrima, and adrenocortical insufficiency) may exist in adult patients with achalasia as well.
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PMID:Association of adult achalasia and alacrima. 1023 90

The triple A syndrome (MIM*231550) is a rare autosomal recessive disorder characterized by adrenocorticotropic hormone (ACTH) resistant adrenal failure, achalasia, alacrima and a variety of neurological and dermatological features. Adrenal insufficiency usually presents in the first decade of life, however in some patients it may occur later in life or may even lack completely. Recently, we and others identified a novel gene on chromosome 12q13, designated AAAS (Achalasia-Addisonianism-Alacrima-Syndrome gene) which is mutated in patients with triple A syndrome. We investigated n=84 families including 111 patients with clinically suggested triple A syndrome and identified homozygous or compound heterozygous AAAS mutations in 78 families. Genotype/phenotype analyses revealed a highly variable occurrence, age of onset and severity of all clinical symptoms between patients with the same AAAS mutation. The obvious lack of a genotype/phenotype relationship is suggestive of modifying genes/factors which need to be determined. The AAAS protein function is unknown. With four WD repeats it belongs to the family of WD repeat-containing proteins which may exhibit a high degree of functional diversity. The subcellular localization of the protein and the determination of its putative binding partners will shed light on the role of the AAAS protein for the development and function of the adrenal gland and other neuroendocrine structures.
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PMID:New insights into the molecular basis of the triple A syndrome. 1253 Jun 89

The triple A or Allgrove's syndrome is an autosomal recessive disorder characterized by the triad of achalasia cardia, alacrima and ACTH resistant adrenocortical insufficiency. Mutations of the Achalasia-Addisonianism-Alacrima-Syndrome (AAAS) gene on chromosome 12q13 are associated with this syndrome. We report an Indian family where two siblings were homozygous for a known mutation of the AAAS gene and presented with the classical triad of symptoms. The mother and the brother were heterozygous and asymptomatic. The affected siblings had iron deficiency anemia and the younger sister had pes cavus and palmoplantar keratosis. Neurological symptoms were absent in both affected children. Recognition of this syndrome can lead to early treatment of adrenal insufficency and genetic counselling.
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PMID:Mutations of the AAAS gene in an Indian family with Allgrove's syndrome. 1693 55

Non-malignant oesophageal diseases are critical to recognize, but can be easily overlooked or misdiagnosed radiologically. In this paper, we cover the salient clinical features and imaging findings of non-malignant pathology of the oesophagus. We organize the many non-malignant diseases of the oesophagus into two major categories: luminal disorders and wall disorders. Luminal disorders include dilatation/narrowing (e.g. achalasia, scleroderma, and stricture) and foreign body impaction. Wall disorders include wall thickening (e.g. oesophagitis, benign neoplasms, oesophageal varices, and intramural hematoma), wall thinning/outpouching (e.g. epiphrenic diverticulum, Zenker diverticulum, and Killian-Jamieson diverticulum), wall rupture (e.g. iatrogenic perforation, Boerhaave Syndrome, and Mallory-Weiss Syndrome), and fistula formation (e.g. pericardioesophageal fistula, tracheoesophageal fistula, and aortoesophageal fistula). It is the role of the radiologist to recognize the classic imaging patterns of these non-malignant oesophageal diseases to facilitate the delivery of appropriate and prompt medical treatment.
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PMID:Imaging of the oesophagus: beyond cancer. 2830 54

Triple-A Syndrome (TAS) is a rare autosomal recessive disorder characterized by three cardinal symptoms: alacrimia, achalasia and adrenal insufficiency due to ACTH insensitivity. Various progressive neurological abnormalities and skin changes have been described in association with the syndrome. The disease is caused by mutation in the AAAS gene on chromosome 12q13. Mutations in AAAS were identified in more than 90% of individuals and families with TAS. The protein encoded by AAAS was termed ALADIN and is part of the WD repeat family of proteins, that have been found to be involved in many different functions such as protein-protein interaction, RNA processing, cytoskeleton assembly, control of cell division, signal transduction and apoptosis. Immunohistochemical analysis showed that mutated or truncated ALADIN localizes to the cytoplasm rather than to the nuclear pore complex. The exact function of ALADIN and the mechanisms that lead to the ACTH-resistant adrenal phenotype remains largely unknown. Nonetheless, recent studies provided some insights on the role of ALADIN as a member of the Nuclear Pore Complex not only implicated in the import of proteins involved in DNA repair and oxidative stress homeostasis but also in the strengthening of the mitotic spindle assembly. Early identification of the syndrome is challenging, given the rarity of the condition and high phenotypic heterogeneity even among members of the same family. In this review, we aim to summarize the current knowledge of clinical and molecular profile of patients with TAS and recommendations for the diagnosis, management, and follow-up of patients.
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PMID:Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity. 3253 14