Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 12307305
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: PRF1
Name: perforin 1
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
PRF1 ISOPRF1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosisPMID:10583959 PMID:11179007 PMID:1156555 PMID:11565555 PMID:11756153 PMID:12060139 PMID:12716377 PMID:14576041 PMID:14757862 PMID:15205266 PMID:15365097 PMID:15632205 PMID:15755897 PMID:15924140 PMID:16278825 PMID:16374518 PMID:16443553 PMID:16860143 PMID:17164654 PMID:17266056 PMID:17525286 PMID:17674359 PMID:17873118 PMID:18190960 PMID:18710388 PMID:19487666 PMID:19595804 PMID:19639728 PMID:21234777 PMID:21881043 PMID:21931115 PMID:21959744 PMID:22186995 PMID:22437823 PMID:23073290 PMID:23255033 PMID:23264592 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24390453 PMID:24744671 PMID:24916509 PMID:25577959 PMID:25741868 PMID:26184781 PMID:26199792 PMID:26684649 PMID:27209435 PMID:27271812 PMID:27577878 PMID:27622035 PMID:27896523 PMID:28492532 PMID:28757574 PMID:29095814 PMID:29152263 PMID:29239076 PMID:29357941 PMID:29665027 PMID:30849948 PMID:31388699 PMID:31395954 PMID:31789783 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32696691 PMID:32963807 PMID:33365035 PMID:33658321 PMID:33746956 PMID:33822359
Go Back to source page   Continue to Ontology report