Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus.

[triple a syndrome]

Evidence indicates that patients with familial achalasia associated with Allgrove or triple-A syndrome (i .e . alacrima , achalasia and adrenocorticotropin-resistant adrenal insufficiency with neurological impairment ) have mutations of the alacrima achalasia adrenal insufficiency syndrome (AAAS ) gene .The present study was aimed at identifying possible AAAS gene mutations in patients with established idiopathic non-familial achalasia .Genomic DNA of 41 patients was isolated from peripheral blood cells using standard methods . The 16 exons of the AAAS gene (or ALADIN ) were screened for mutations using the denaturing high -performance liquid chromatography method .Four heterozygous nucleotidic variations have been identified in patients with idiopathic achalasia , among which three were exonic conservative polymorphisms [i .e . D 138 D (GAT-->GAC ), L 227 L (TTG-->CTG ) and F 2 85 F (TTC-->TTT ) in exons 5 , 7 and 9 , respectively ]. The fourth nucleotidic variation was located in intron 13 (IVS 14 -23 delT ). All variants have been regarded as polymorphisms resulting in a normal ALADIN protein since they are either conservative or lying outside the consensus splice sites .Our data do not support a pathogenetic role for common AAAS gene mutations in patients with idiopathic achalasia as seen in Allgrove syndrome . These findings suggest the participation of different mechanisms in the pathogenesis of idiopathic achalasia .

Diseases
Validation

Diseases presenting "respectively" symptom

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

alpha-thalassemia

benign recurrent intrahepatic cholestasis

carcinoma of the gallbladder

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cushing syndrome

cystinuria

dedifferentiated liposarcoma

dentin dysplasia

dentinogenesis imperfecta

epidermolysis bullosa simplex

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

harlequin ichthyosis

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

holt-oram syndrome

kallmann syndrome

lamellar ichthyosis

liposarcoma

neonatal adrenoleukodystrophy

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyruvate dehydrogenase deficiency

scrub typhus

triple a syndrome

von hippel-lindau disease

well-differentiated liposarcoma

wolf-hirschhorn syndrome

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