| H00939 | |
| H number | H00939 |
| Name | Darsun syndrome; Neutropenia, severe congenital 4, autosomal recessive; G6PC3 deficiency |
| Description | 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. |
| Category | Immune system disease |
| Network | - |
| Gene | G6PC3 [HSA:92579] [KO:K01084] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4B00.00 ICD-10: D70 MeSH: C567260 OMIM: 612541 |
| Reference | PMID:19118303 AUTHORS 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 TITLE A syndrome with congenital neutropenia and mutations in G6PC3. JOURNAL N Engl J Med 360:32-43 (2009) DOI:10.1056/NEJMoa0805051 PMID:21206270 AUTHORS Boztug K, Klein C TITLE Genetic etiologies of severe congenital neutropenia. JOURNAL Curr Opin Pediatr 23:21-6 (2011) DOI:10.1097/MOP.0b013e32834262f8 PMID:19440858 AUTHORS Klein C, Welte K TITLE Genetic insights into congenital neutropenia. JOURNAL Clin Rev Allergy Immunol 38:68-74 (2010) DOI:10.1007/s12016-009-8130-5 PMID:19782549 AUTHORS Boztug K, Klein C TITLE Novel genetic etiologies of severe congenital neutropenia. JOURNAL Curr Opin Immunol 21:472-80 (2009) DOI:10.1016/j.coi.2009.09.003 PMID:21219176 AUTHORS Klein C TITLE Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. JOURNAL Annu Rev Immunol 29:399-413 (2011) DOI:10.1146/annurev-immunol-030409-101259 PMID:20799326 AUTHORS Banka S, Newman WG, Ozgul RK, Dursun A TITLE Mutations in the G6PC3 gene cause Dursun syndrome. JOURNAL Am J Med Genet A 152A:2609-11 (2010) DOI:10.1002/ajmg.a.33615 |