| H00571 | |
| H番号 | H00571 |
| 名称 | ヨハンソン‐ブリザード症候群 |
| 概要 | Johanson-Blizzard syndrome is a rare, sometimes fatal disorder that is inherited in autosomal recessive pattern. Exocrine pancreatic insufficiency including decreased secretion of lipases and trypsinogen is the most consistent feature. Nasal wing hypoplasia, scalp defects, and sensorineural hearing loss are additional clinical features of the disease. The causative gene, ubiquitin-protein ligase E3 component N-recognin 1 (UBR1), is involved in protein destabilization. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | UBR1 [HSA:197131] [KO:K10625] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD27.0Y ICD-10: Q87.8 MeSH: C535880 OMIM: 243800 |
| 文献 | PMID:20556422 著者 Rezaei N, Sabbaghian M, Liu Z, Zenker M タイトル Eponym: Johanson-Blizzard syndrome. 雑誌 Eur J Pediatr 170:179-83 (2011) DOI:10.1007/s00431-010-1240-5 PMID:16311597 著者 Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hulskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A タイトル Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). 雑誌 Nat Genet 37:1345-50 (2005) DOI:10.1038/ng1681 PMID:21931868 著者 Hwang CS, Sukalo M, Batygin O, Addor MC, Brunner H, Aytes AP, Mayerle J, Song HK, Varshavsky A, Zenker M タイトル Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. 雑誌 PLoS One 6:e24925 (2011) DOI:10.1371/journal.pone.0024925 |