KEGG DISEASE: Darsun syndrome

KEGG

DISEASE: Darsun syndrome

Entry

H00939                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Immune system disorders involving white cell lineages
   4B00  Disorders of neutrophil number
    H00939  Darsun syndrome

Gene

G6PC3 [HSA:92579] [KO:K01084]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

DBGET integrated database retrieval system