Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Synonyms: SCN4 | Severe congenital neutropenia type 4 | Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare genetic primary immunodeficiency disorder characterized by increased susceptibility to recurrent life-threatening bacterial infections in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects patent ductus arteriosus,valvular defects) urogenital anomalies (incl. cryptorchidism) growth and developmental delay facial dysmorphism (e.g. frontal bossing upturned nose malar hypoplasia) and intermittent thrombocytopenia are frequently associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency?
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