ORPHA:331176
Severe congenital neutropenia due to G6PC3 deficiency
Also called SCN due to G6PC3 deficiency, SCN4, Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency, Severe congenital neutropenia type 4, Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:331176 is classified under "Immunological diseases" in the Orphanet nomenclature.