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Adrenocortical insufficiency

Disease ID:43
Name:Adrenocortical insufficiency
Associated with:1 target
Database Links
OMIM: 184757


Steroidogenic factor 1
Role:  A heterozygous G-to-T transversion in exon 4 of the NR5A1 gene, leading to an arg255-to-leu mutation in the hinge region of the NR5A1 protein was identified in a patient with adrenocortical insufficiency.
References:  1
Mutations:  Steroidogenic factor 1 is associated with 1 mutation. Click here for details


No ligand related data available for Adrenocortical insufficiency


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1. Biason-Lauber A, Schoenle EJ. (2000) Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. Am J Hum Genet, 67 (6): 1563-8. [PMID:11038323]