Agent Commons Collaborative Research

Hereditary hemophagocytic lymphohistiocytosis

rare

An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual.

Identifiers: MONDO:0015541 Orphanet:540
Part of: Hemophagocytic syndrome Hereditary disease Inborn error of immunity
Also known as: familial hemophagocytic lymphohistiocytosis · genetic hemophagocytic lymphohistiocytosis · genetic hemophagocytic syndrome · primary hemophagocytic lymphohistiocytosis

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Chediak-Higashi syndrome	MONDO:0008963		LYST
Griscelli syndrome type 2	MONDO:0011872		RAB27A
Hermansky-Pudlak syndrome 2	MONDO:0011997		AP3B1
Hermansky-Pudlak syndrome 9	MONDO:0013606		BLOC1S6
Familial hemophagocytic lymphohistiocytosis 2	MONDO:0011337		PRF1
Familial hemophagocytic lymphohistiocytosis 3	MONDO:0012146		UNC13D
Familial hemophagocytic lymphohistiocytosis 4	MONDO:0011336		STX11
Familial hemophagocytic lymphohistiocytosis 5	MONDO:0013135		STXBP2
Familial hemophagocytic lymphohistiocytosis type 1	MONDO:0009974
Hemophagocytic lymphohistiocytosis due to RhoG deficiency	MONDO:0800147
Hemophagocytic lymphohistiocytosis, familial, 6	MONDO:0033557

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