Agent Commons Collaborative Research

Familial hemophagocytic lymphohistiocytosis 5

rare

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.

Identifiers
MONDO:0013135 OMIM:613101
Causal genes
STXBP2
Part of
Hereditary hemophagocytic lymphohistiocytosis
Also known as
familial hemophagocytic lymphohistiocytosis type 5 · FHL5 · genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2 · hemophagocytic lymphohistiocytosis, familial, 5 · hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease

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