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familial hemophagocytic lymphohistiocytosis type 3 (HPLH3)
Genetics:
- caused by defects in the UNC13D gene
Clinical manifestations:
1) phenotypically homogeneous & indistinguishable from HPLH2
General
familial histiocytic reticulosis; familial hemophagocytic reticulosis; familial hemophagocytic lymphohistiocytosis; familial erythrophagocytic lymphohistiocytosis
Database Correlations
OMIM 608898
References
OMIM :accession 608898