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)
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.
...
PMID:Mutations of the AAAS gene in an Indian family with Allgrove's syndrome. 1693 55
