Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 <i>G6PC3</i> 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. Disease data Classification Disease Synonyms SCN4 Ciężka wrodzona neutropenia - nadciśnienie płucne - powierzchowna angiektazja żylna Ciężka wrodzona neutropenia 4 SCN4 Severe congenital neutropenia type 4 Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome ORPHA code 331176 OMIM code 612541 ICD10 code D70 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl