Familial hemophagocytic lymphohistiocytosis
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:autoimmune_disease
gptkb:genetic_disorder |
| gptkbp:affects |
immune system
|
| gptkbp:alternativeName |
gptkb:FHL
familial HLH |
| gptkbp:causedBy |
gptkb:genetic_disorder
PRF1 gene mutation STX11 gene mutation STXBP2 gene mutation UNC13D gene mutation |
| gptkbp:complication |
multi-organ failure
neurological symptoms |
| gptkbp:frequency |
rare
|
| gptkbp:hasOrphanetID |
ORPHA:33747
|
| gptkbp:ICD-10_code |
D76.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mortalityRate |
high if untreated
|
| gptkbp:OMIM |
267700
|
| gptkbp:onset |
childhood
|
| gptkbp:symptom |
fever
hepatosplenomegaly coagulopathy cytopenia hyperferritinemia |
| gptkbp:treatment |
immunosuppressive therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:FHL
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Familial hemophagocytic lymphohistiocytosis
|