| H01772 | |
| H number | H01772 |
| Name | Adrenal hypoplasia, congenital; X-linked addison disease |
| Description | Adrenal hypoplasia congenital (AHC) is an inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. AHC includes X-linked form, a rare autosomal recessive form [DS:H02316], and IMAGE syndrome [DS:H02319]. If untreated, adrenal insufficiency is rapidly lethal as a result of hyperkalemia, acidosis, hypoglycemia, and shock. A constant feature of the X-linked AHC is the association with hypogonadotropic hypogonadism (HHG). Affected males typically have delayed puberty or arrested puberty caused by HHG. Mutations in the DAX-1 (NR0B1) gene are responsible for X-linked AHC. |
| Category | Endocrine and metabolic disease |
| Network | nt06310(H01772) CRH-ACTH-cortisol signaling |
| Gene | NR0B1 [HSA:190] [KO:K08562] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LC80 ICD-10: E27.4 MeSH: D000075262 OMIM: 300200 |
| Reference | PMID:12034880 AUTHORS Lehmann SG, Lalli E, Sassone-Corsi P TITLE X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein. JOURNAL Proc Natl Acad Sci U S A 99:8225-30 (2002) DOI:10.1073/pnas.122044099 PMID:26303087 AUTHORS Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC TITLE DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. JOURNAL Best Pract Res Clin Endocrinol Metab 29:607-19 (2015) DOI:10.1016/j.beem.2015.07.004 PMID:20301604 AUTHORS Achermann JC, Vilain EJ TITLE X-Linked Adrenal Hypoplasia Congenita JOURNAL GeneReviews (1993) |