Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.

[triple a syndrome]

Triple A syndrome (AAAS , OMIM #231550 ) is an autosomal recessive condition characterized by adrenal insufficiency , achalasia , alacrima , neurodegeneration and autonomic dysfunction . Mutations in the AAAS gene on chromosome 12 q 13 have been reported in several subjects with AAAS . Over the last 5 years , we have evaluated six subjects with the clinical diagnosis of AAAS . Three subjects had mutations in the AAAS gene -- including one novel mutation (IVS 8 +1 G >A )-- and a broad spectrum of clinical presentations . However , three subjects with classic AAAS did not have mutations in the AAAS gene on both alleles . This finding supports the notion of genetic heterogeneity for this disorder , although other genetic mechanisms can not be excluded .

Diseases
Validation

Diseases presenting "broad spectrum" symptom

adrenomyeloneuropathy

cushing syndrome

cystinuria

dentinogenesis imperfecta

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

focal myositis

hereditary cerebral hemorrhage with amyloidosis

hodgkin lymphoma, classical

kabuki syndrome

kallmann syndrome

krabbe disease

neonatal adrenoleukodystrophy

omenn syndrome

pendred syndrome

pleomorphic liposarcoma

triple a syndrome

waldenstrÃ¶m macroglobulinemia

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