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)

4A syndrome is characterised by adrenocortical insufficiency, achalasia, alacrima, autonomic and other neurological abnormalities. We report an 18-year-old boy with 4 A syndrome and having all classical features of the disease including sensorimotor neuropathy. In addition, the patient had low aldosterone levels and signs of osteoporosis, which apparently developed without glucocorticoid replacement therapy. Although it is speculated that the lack of local growth factors, nutritional deficiency secondary to achalasia or receptor abnormalities regarding bone metabolism contribute to osteoporosis, its etiopathogenesis still needs to be clarified.
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PMID:The 4A syndrome association with osteoporosis. 1042 92

The triple A syndrome or Allgrove syndrome (MIM*231550) is characterized by adrenocorticotropic hormone (ACTH) resistant Adrenal insufficiency, Achalasia of the cardia and Alacrima. In addition to the main features, patients frequently suffer from neurological disturbances. Dermatological abnormalities such as palmoplantar hyperkeratosis as well as other signs like short stature, microcephaly and osteoporosis point to the multisystemic character of the disorder. The molecular defect of the autosomal recessively inherited triple A syndrome is not known. We initially performed a systematic genome linkage scan in eight triple A families and were able to map the syndrome to a 6 cM interval on human chromosome 12q13 near the type II keratin gene cluster. A refinement of the triple A critical region was achieved by detailed haplotype analysis in a further 37 families from different ethnic backgrounds. There was no indication of genetic heterogeneity. The achalasia-alacrima (AA) syndrome which has been defined as a distinct clinical entity (MIM 200440) is most likely a variant of the triple A syndrome as shown by haplotype analysis in three AA families. We constructed a high-resolution BAC/PAC-based transcript map of the region which will greatly facilitate the identification of the triple A syndrome gene. The considerable intra- and interfamilial variability of the severity of the disorder implies a variable expression of an impaired pleiotropically acting gene.
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PMID:Triple A syndrome--clinical aspects and molecular genetics. 1119 51

Triple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Achalasia could be the first manifestation of the triple-A syndrome; however, its etiology is unclear. Alacrima is generally asymptomatic but can be detected by obtaining patient history. Although adrenal insufficiency could have manifestations such as asthenia, it might be wrongly diagnosed as muscle fatigue. Vitamin D and calcium supplements are usually prescribed for the prevention of osteoporosis. Neurologic manifestations could be present in adults. In some individuals with this disorder, genetic examination indicates mutations in both alleles of the AAAS gene, which encodes a special 546-amino-acid protein designated ALADIN, and in chromosome 12q13. The genetic cause of the triple A syndrome in some patients who do not have an identified mutation is unknown. While very few such cases have been reported till date, one such case was presented to us as an edentulous child.
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PMID:Edentulous child with Allgrove syndrome: a rare case report. 2789 94