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Adrenal hypoplasia, congenital; AHC

Disease ID:41
Name:Adrenal hypoplasia, congenital; AHC
Associated with:1 target
Addison's disease | Adrenal hypoplasia, cytomegalic type | Cytomegalic congenital adrenal hypoplasia | hypoadrenalism | primary/chronic adrenal insufficiency
Database Links
Disease Ontology: DOID:13774
OMIM: 202155, 300200
Orphanet: ORPHA95702


Role:  All types of missense mutation in DAX1 resulting in AHC are localised in the ligand binding domain. Many mutations are frameshift or nonsense mutations that lead to a truncated DAX1 protein.
References:  1-3


No ligand related data available for Adrenal hypoplasia, congenital; AHC


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1. Lalli E, Bardoni B, Zazopoulos E, Wurtz JM, Strom TM, Moras D, Sassone-Corsi P. (1997) A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. Mol Endocrinol, 11 (13): 1950-60. [PMID:9415399]

2. Muscatelli F, Strom TM, Walker AP, Zanaria E, Récan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W. (1994) Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature, 372 (6507): 672-6. [PMID:7990958]

3. Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, Nakamoto J, New MI, Pagon RA, Pappas JG, Quigley CA, Rosenthal IM, Baxter JD, Fletterick RJ, McCabe ER. (1998) DAX1 mutations map to putative structural domains in a deduced three-dimensional model. Am J Hum Genet, 62 (4): 855-64. [PMID:9529340]