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GENE - TERM ANNOTATION REPORT

RGD ID: 1553597
Species: Mus musculus
RGD Object: Gene
Symbol: Prf1
Name: perforin 1 (pore forming protein)
Acc ID: DOID:9004404
Term: Familial Hemophagocytic Lymphohistiocytoses
Definition: Hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder, is characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained. Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation. (OMIM)
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13502728554872ClinVarClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis

 
 ISORGD:13502728554872ClinVarClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis

PMID:10583959, PMID:11565555, PMID:14757862, PMID:15365097, PMID:16374518, PMID:17873118, PMID:21234777, PMID:23443029, PMID:26684649, PMID:27271812
 ISORGD:13502728554872ClinVarClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis

PMID:12060139, PMID:14739222, PMID:15755897, PMID:16278825, PMID:16374518, PMID:17477373, PMID:21881043, PMID:22970278
 ISORGD:13502728554872ClinVarClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis

PMID:12229880, PMID:14739222, PMID:14757862, PMID:15342365, PMID:15728124, PMID:15755897, PMID:16720836, PMID:17311987, PMID:17475905, PMID:24033266, PMID:25741868, PMID:27535533, PMID:28492532
 ISORGD:13502728554872ClinVarClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis

PMID:17311987, PMID:25741868, PMID:28492532
 ISORGD:13502728554872ClinVarClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis

PMID:21881043, PMID:24916509, PMID:25845254, PMID:25937001, PMID:28492532
 ISORGD:13502728554872ClinVarClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis

PMID:24033266, PMID:25741868
 ISORGD:13502728554872ClinVarClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis

PMID:25741868, PMID:28492532
 ISORGD:13502728554872ClinVarClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.