| H01772 | |
| H番号 | H01772 |
| 名称 | 先天性副腎低形成症; X連鎖性アジソン病 |
| 概要 | 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. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | nt06310(H01772) CRH-ACTH-cortisol signaling |
| 病因遺伝子 | NR0B1 [HSA:190] [KO:K08562] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LC80 ICD-10: E27.4 MeSH: D000075262 OMIM: 300200 |
| 文献 | PMID:12034880 著者 Lehmann SG, Lalli E, Sassone-Corsi P タイトル X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein. 雑誌 Proc Natl Acad Sci U S A 99:8225-30 (2002) DOI:10.1073/pnas.122044099 PMID:26303087 著者 Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC タイトル DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. 雑誌 Best Pract Res Clin Endocrinol Metab 29:607-19 (2015) DOI:10.1016/j.beem.2015.07.004 PMID:20301604 著者 Achermann JC, Vilain EJ タイトル X-Linked Adrenal Hypoplasia Congenita 雑誌 GeneReviews (1993) |