AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Disease: Adrenal gland hypofunction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.140 GeneticVariation phenotype BEFREE Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency. 20051279 2010
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.140 Biomarker phenotype LHGDN Triple A syndrome. 19011813 2008
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.140 GeneticVariation phenotype BEFREE We conclude that a novel R155P mutation in the ALADIN gene is associated with Allgrove syndrome and that insulin-induced hypoglycemia, rather than ACTH stimulation tests, should be used for accurate diagnosis of adrenal insufficiency in this disorder. 15690314 2005
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.140 Biomarker phenotype BEFREE Triple A syndrome (AAAS, OMIM#231550) is an autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima, neurodegeneration and autonomic dysfunction. 16098009 2005
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.140 Biomarker phenotype HPO