Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0014848 (
achalasia
)
2,804
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Edentulous child with Allgrove syndrome: a rare case report. 2789 94
