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familial hemophagocytic lymphohistiocytosis 5 | RareConnect | RareConnect.io

/hereditary hemophagocytic lymphohistiocytosis

/familial hemophagocytic lymphohistiocytosis 5

familial hemophagocytic lymphohistiocytosis 5

Rare Disease

MONDO:0013135

Also Known As

FHL5HLH5HPLH5STXBP2 genetic hemophagocytic lymphohistiocytosisfamilial hemophagocytic lymphohistiocytosis type 5genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion diseasehemophagocytic lymphohistiocytosis, familial, type 5hemophagocytic lymphohistiocytosis, familial, 5

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:613101 ↗

GARD

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