| H01033 | |
| H番号 | H01033 |
| 名称 | 先天性両側精管欠損症 |
| 概要 | The condition of congenital bilateral absence of the vas deferens (CBAVD) causes obstructive azoospermia frequently seen in cystic fibrosis (CF) that is characterized by progressive lung disease, pancreatic dysfunction, elevated sweat electrolytes, and male infertility. In 80% of patients with CBAVD, mutations are identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Recently, mutations in ADGRG2 gene have been identified. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (CBAVD) CFTR [HSA:1080] [KO:K05031] (CBAVDX) ADGRG2 [HSA:10149] [KO:K08451] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Cystic fibrosis is described in H00218. |
| リンク | ICD-11: LB57 ICD-10: Q55.4 MeSH: C535984 OMIM: 277180 300985 |
| 文献 | PMID:9147111 著者 Lissens W, Mercier B, Tournaye H, Bonduelle M, Ferec C, Seneca S, Devroey P, Silber S, Van Steirteghem A, Liebaers I タイトル Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities. 雑誌 Hum Reprod 11 Suppl 4:55-78; discussion 79-80 (1996) DOI:10.1093/humrep/11.suppl_4.55 PMID:15379964 著者 Cuppens H, Cassiman JJ タイトル CFTR mutations and polymorphisms in male infertility. 雑誌 Int J Androl 27:251-6 (2004) DOI:10.1111/j.1365-2605.2004.00485.x PMID:8421472 (CFTR) 著者 Gervais R, Dumur V, Rigot JM, Lafitte JJ, Roussel P, Claustres M, Demaille J タイトル High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. 雑誌 N Engl J Med 328:446-7 (1993) DOI:10.1056/NEJM199302113280619 PMID:27476656 (ADGRG2) 著者 Patat O, Pagin A, Siegfried A, Mitchell V, Chassaing N, Faguer S, Monteil L, Gaston V, Bujan L, Courtade-Saidi M, Marcelli F, Lalau G, Rigot JM, Mieusset R, Bieth E タイトル Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. 雑誌 Am J Hum Genet 99:437-42 (2016) DOI:10.1016/j.ajhg.2016.06.012 |