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familial hemophagocytic lymphohistiocytosis 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.
Uniprot Description A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.
Mondo Term and Equivalent IDs
MONDO:0012146:  familial hemophagocytic lymphohistiocytosis 3
GARD:0009928: 
MESH:C537251: