Severe Congenital Neutropenia 4 (SCN4)

Alias:

Autosomal Recessive Severe Congenital Neutropenia Due to G6pc3 Deficiency

Severe Congenital Neutropenia-Pulmonary Hypertension-Superficial Venous Angiectasis Syndrome

Scn4

Severe Congenital Neutropenia Type 4

Dursun Syndrome

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Gene & Mutation

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References Literature

Severe Congenital Neutropenia 4, also known as autosomal recessive severe congenital neutropenia due to g6pc3 deficiency, is related to neutropenia, severe congenital, 4, autosomal recessive and g6pc3 deficiency. An important gene associated with Severe Congenital Neutropenia 4 is G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Glycolysis (REACTOME). Affiliated tissues include bone marrow and bone, and related phenotypes are liver/biliary system and cellular

Related ID：

MALACARDS：SVR110