PRF1 gene related symptoms and diseases
All the information presented here about the PRF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PRF1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hemophagocytosis | Uncommon - Between 30% and 50% cases |
| Anemia | Uncommon - Between 30% and 50% cases |
| Seizures | Rare - less than 30% cases |
| Hemiplegia | Rare - less than 30% cases |
| Hyponatremia | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with PRF1 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Abnormality of coagulation
- Increased CSF protein
- Increased serum ferritin
- Papilledema
- Hypoproteinemia
- Generalized edema
- Immune dysregulation
- Prolonged prothrombin time
And 41 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PRF1 gene
Here you will find a list of rare diseases related to the PRF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
Alternate names
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS Is also known as familial hlh
Description
Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.
More info about FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
SOURCES: ORPHANET
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2
Alternate names
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Is also known as hplh2, hlh2
Description
Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG ) and TNF-alpha (OMIM ), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.
Most common symptoms of HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Failure to thrive
More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2
SOURCES: OMIM
IDIOPATHIC APLASTIC ANEMIA
Alternate names
IDIOPATHIC APLASTIC ANEMIA Is also known as idiopathic bone marrow failure
Description
Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002).
Most common symptoms of IDIOPATHIC APLASTIC ANEMIA
- Anemia
- Bone marrow hypocellularity
- Aplastic anemia
- Hemophagocytosis
More info about IDIOPATHIC APLASTIC ANEMIA
NON-HODGKIN LYMPHOMA
Alternate names
NON-HODGKIN LYMPHOMA Is also known as nhl, non-hodgkin lymphoma
Description
Non-Hodgkin malignant lymphomas(NHL) is a heterogeneous group of malignant tumors of the lymphoid system.
Most common symptoms of NON-HODGKIN LYMPHOMA
- Neoplasm
- Leukemia
- Lymphoma
- Hodgkin lymphoma
- B-cell lymphoma
More info about NON-HODGKIN LYMPHOMA
FATAL POST-VIRAL NEURODEGENERATIVE DISORDER
Description
Fatal post-viral neurodegenerative disorder is a rare neuroinflammatory disease characterized by the onset of ataxia, dysarthia and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertrigliceridemia, hypofibrinogenemia and hyperferritinemia.
More info about FATAL POST-VIRAL NEURODEGENERATIVE DISORDER
SOURCES: ORPHANET
Search interest in PRF1
Potential gene panels for PRF1 gene
Hereditary Leukemia/Lymphoma Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Hereditary Leukemia/Lymphoma Panel that also includes the following genes: RUNX1 BRCA2 TP53 CBL CEBPA SBDS BRIP1 PALB2 GATA2 ATM
More info about this panel United States.
Comprehensive Hereditary Cancer Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM
More info about this panel United States.
Bone Marrow Failure Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Bone Marrow Failure that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS15 RPS19 RPS24 RPS26 RPS27A RPS7
More info about this panel United States.
PRF1 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the PRF1 gene.
More info about this panel United States.
Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS) that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 GATA2 AP3B1
More info about this panel United States.
Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP
More info about this panel United States.
PRF1 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the PRF1 gene.
More info about this panel United States.
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Tier 2: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: BLM SH2D1A BRCA1 BRCA2 STXBP2 FAS CD27 FASLG WAS IKZF1
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
PRF1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PRF1 gene.
More info about this panel Germany.
PRF1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PRF1 gene.
More info about this panel Spain.
Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (NGS panel for 7 genes) Panel
Portugal.
By CGC Genetics Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (NGS panel for 7 genes) that also includes the following genes: STX11 STXBP2 DCLRE1C UNC13D PRF1 RAG1 RAG2
More info about this panel Portugal.
Hemophagocytic lymphohistiocytosis, familial (sequence analysis of PRF1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PRF1 gene.
More info about this panel Portugal.
OncoRisk Plus (NGS panel for 89 genes) Panel
Portugal.
By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Portugal.
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 TNFRSF1A CD27 CD70 WAS NLRP3
More info about this panel United States.
Familial Hemophagocytic Lymphohistiocytosis-Type 2 (FHL2) via PRF1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PRF1 gene.
More info about this panel United States.
Hereditary Cancer Syndromes - panels Panel
Germany.
By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Germany.
Familial Hemophagocytic Lymphohistiocytosis Panel Panel
United States.
By FirmaLab Familial Hemophagocytic Lymphohistiocytosis Panel that also includes the following genes: STX11 STXBP2 UNC13D PRF1 RAB27A
More info about this panel United States.
PRF1 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the PRF1 gene.
More info about this panel Netherlands.
HLH/immunedisregulation panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht HLH/immunedisregulation panel that also includes the following genes: SH2D1A STX11 STXBP2 LYST UNC13D AP3B1 XIAP PRF1 RAB27A
More info about this panel Netherlands.
Hemophagocytic Lymphohistiocytosis panel Panel
Germany.
By Centogene AG - the Rare Disease Company Hemophagocytic Lymphohistiocytosis panel that also includes the following genes: STX11 STXBP2 UNC13D PRF1
More info about this panel Germany.
Hemophagocytic lymphohistiocytosis, familial type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PRF1 gene.
More info about this panel Germany.
Aplastic anemia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PRF1 gene.
More info about this panel Germany.
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panel Germany.
Single gene testing PRF1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PRF1 gene.
More info about this panel Germany.
Bone marrow failure syndromes Panel Panel
Germany.
By CeGaT GmbH Bone marrow failure syndromes Panel that also includes the following genes: BRCA2 SRP72 STX11 STXBP2 TERC TERT TINF2 WAS XRCC2 NHP2
More info about this panel Germany.
Immune dysregulation Panel Panel
Germany.
By CeGaT GmbH Immune dysregulation Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG TREX1 ITCH CASP10 CASP8 CARD11
More info about this panel Germany.
Cancer Predisposition Panel
Estonia.
By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panel Estonia.
Familial hemophagocytic lymphohistiocytosis, PRF1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the PRF1 gene.
More info about this panel United States.
Hemophagocytic Lymphohistiocytosis 2 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PRF1 gene.
More info about this panel Austria.
Hemophagocytic Lymphohistiocytosis 2 Panel
Slovakia.
By MedGene
This panel specifically test the PRF1 gene.
More info about this panel Slovakia.
Invitae Monogenic Autoimmunity Panel Panel
United States.
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Panel
United States.
By Invitae Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 CD27 WAS ADA LYST UNC13D
More info about this panel United States.
Hemophagocytic Lymphohistiocytosis, Familial: PRF1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PRF1 gene.
More info about this panel Spain.
Hemophagocytic lymphohistiocytosis, familial Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hemophagocytic lymphohistiocytosis, familial that also includes the following genes: SH2D1A STX11 STXBP2 UNC13D PRF1 RAB27A
More info about this panel Spain.
Hemophagocytic Lymphohistiocytosis: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hemophagocytic Lymphohistiocytosis: Sequencing Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 NLRC4 LYST UNC13D MAGT1 GATA2
More info about this panel United States.
Familial Hemophagocytic Lymphohistiocytosis NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Familial Hemophagocytic Lymphohistiocytosis NGS Panel that also includes the following genes: STX11 STXBP2 UNC13D PRF1 RAB27A
More info about this panel United States.
PRF1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PRF1 gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Hereditary Pediatric Cancer Panel Panel
Finland.
By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Comprehensive Hereditary Cancer Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Hemophagocytic Lymphohistiocytosis Panel Panel
Finland.
By Blueprint Genetics Hemophagocytic Lymphohistiocytosis Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG LYST UNC13D MAGT1 FADD XIAP
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Bone Marrow Failure Syndrome Panel Panel
Finland.
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Amyotrophic Lateral Sclerosis Panel Panel
Finland.
By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP
More info about this panel Finland.
Familial hemophagocytic lymphohistiocytosis 2 Panel
Spain.
By Bioarray
This panel specifically test the PRF1 gene.
More info about this panel Spain.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS that also includes the following genes: STX11 STXBP2 UNC13D PRF1
More info about this panel Spain.
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS SANGER PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS SANGER PANEL that also includes the following genes: STX11 STXBP2 UNC13D PRF1
More info about this panel Spain.
Familial Hemophagocytic Lymphohistiocytosis Type 2 , Sequencing PRF1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PRF1 gene.
More info about this panel Spain.
Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP
More info about this panel Spain.
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel
Spain.
By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Spain.
Idiopathic Aplastic Anemia , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Idiopathic Aplastic Anemia , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: TERC TERT SBDS IFNG NBN PRF1
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Familial Hemophagocytic Lymphohistiocytosis: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Familial Hemophagocytic Lymphohistiocytosis: gene sequencing panel that also includes the following genes: STX11 STXBP2 UNC13D PRF1
More info about this panel Canada.
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