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.
Reference: Access aggregated data from Orphanet at Orphadata.
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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Accessia Health
Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
Clinical Trials
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