| H00939 | |
| H番号 | H00939 |
| 名称 | Darsun 症候群 |
| 概要 | G6PC3 deficiency is a syndromic variant of severe congenital neutropenia associated by complex organ malformation. Patients often have cardiac defects such as atrial septal defects, an increased superficial venous marking, and urogenital malformations. In the absence of G6PC3, increased ER stress makes neutrophils prone to undergo apoptosis and leads to defective organ development. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | G6PC3 [HSA:92579] [KO:K01084] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4B00.00 ICD-10: D70 MeSH: C567260 OMIM: 612541 |
| 文献 | PMID:19118303 著者 Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C タイトル A syndrome with congenital neutropenia and mutations in G6PC3. 雑誌 N Engl J Med 360:32-43 (2009) DOI:10.1056/NEJMoa0805051 PMID:21206270 著者 Boztug K, Klein C タイトル Genetic etiologies of severe congenital neutropenia. 雑誌 Curr Opin Pediatr 23:21-6 (2011) DOI:10.1097/MOP.0b013e32834262f8 PMID:19440858 著者 Klein C, Welte K タイトル Genetic insights into congenital neutropenia. 雑誌 Clin Rev Allergy Immunol 38:68-74 (2010) DOI:10.1007/s12016-009-8130-5 PMID:19782549 著者 Boztug K, Klein C タイトル Novel genetic etiologies of severe congenital neutropenia. 雑誌 Curr Opin Immunol 21:472-80 (2009) DOI:10.1016/j.coi.2009.09.003 PMID:21219176 著者 Klein C タイトル Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. 雑誌 Annu Rev Immunol 29:399-413 (2011) DOI:10.1146/annurev-immunol-030409-101259 PMID:20799326 著者 Banka S, Newman WG, Ozgul RK, Dursun A タイトル Mutations in the G6PC3 gene cause Dursun syndrome. 雑誌 Am J Med Genet A 152A:2609-11 (2010) DOI:10.1002/ajmg.a.33615 |