PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 CausalMutation disease CLINVAR Predominant Neurologic Manifestations Seen in a Patient With a Biallelic Perforin1 Mutation (PRF1; p.R225W). 27271812 2017
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Primary lymphoma of the brain in a young man whose brother died of hemophagocytic lymphohistiocytosis: case report. 25845254 2017
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Previously undiagnosed fatal familial haemophagocytic lymphohistiocytosis in a 24-year-old woman. 26903364 2016
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 CausalMutation disease CLINVAR Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis. 26684649 2015
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. 25937001 2015
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood. 25233452 2014
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR [Analysis of clinical phenotype and genetic mutations of a pedigree of familial hemophagocytic lymphohistiocytosis]. 25297583 2014
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. 24916509 2014
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease BEFREE Mutations of PRF1 gene have been identified in familial hemophagocytic lymphohistiocytosis type-2 (FHL-2) patients, and it has been reported as the commonest gene defect causing FHL. 24390453 2014
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 CausalMutation disease CLINVAR Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. 23443029 2013
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 CausalMutation disease CLINVAR Familial haemophagocytic lymphohistiocytosis in twin infants. 23255033 2013
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 Biomarker disease MGD Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11. 23160464 2013
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 CausalMutation disease CLINVAR Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease. 22437823 2012
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging. 21959744 2011
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 CausalMutation disease CLINVAR Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis. 21234777 2011
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. 21881043 2011
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes. 21152410 2010
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer. 19487666 2009
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis. 20092789 2009
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR A teenage boy with late onset hemophagocytic lymphohistiocytosis with predominant neurologic disease and perforin deficiency. 18074390 2008
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. 17873118 2008
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 CausalMutation disease CLINVAR Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. 17873118 2008
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. 17266056 2007
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 16278825 2006
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.920 GeneticVariation disease CLINVAR Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. 16374518 2006