UNC13D gene related symptoms and diseases
All the information presented here about the UNC13D gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to UNC13D gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Uncommon - Between 30% and 50% cases |
| Fever | Uncommon - Between 30% and 50% cases |
| Hepatosplenomegaly | Uncommon - Between 30% and 50% cases |
| Pancytopenia | Uncommon - Between 30% and 50% cases |
| Hypertriglyceridemia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with UNC13D gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Decreased liver function
- Abnormality of coagulation
- Hemophagocytosis
- Granulocytopenia
- Hypofibrinogenemia
- Reduced natural killer cell activity
Rare diseases associated to UNC13D gene
Here you will find a list of rare diseases related to the UNC13D. 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, 3; FHL3
Alternate names
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 Is also known as hplh3, hlh3
Description
Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin (OMIM )-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see {267700}.
Most common symptoms of HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3
- Anemia
- Fever
- Hepatosplenomegaly
- Pancytopenia
- Hypertriglyceridemia
More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3
SOURCES: OMIM
Search interest in UNC13D
Potential gene panels for UNC13D gene
MUNC13-4 (UNC13D) 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 UNC13D 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.
MUNC13-4 (UNC13D) 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 UNC13D gene.
More info about this panel United States.
UNC13D Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the UNC13D gene.
More info about this panel Germany.
UNC13D. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the UNC13D gene.
More info about this panel Spain.
Familial Hemophagocytic Lymphohistiocytosis 3 (sequence analysis of UNC13D gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the UNC13D gene.
More info about this panel Portugal.
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 type 3 (deletion/duplication analysis of UNC13D gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the UNC13D gene.
More info about this panel Portugal.
Hemophagocytic lymphohistiocytosis familial type 3 (deletion/duplication analysis of UNC13D gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the UNC13D gene.
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 3 (FHL3) via UNC13D Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the UNC13D gene.
More info about this panel United States.
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.
UNC13D Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the UNC13D 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 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the UNC13D 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 UNC13D Panel
Germany.
By CeGaT GmbH
This panel specifically test the UNC13D gene.
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.
Familial hemophagocytic lymphohistiocytosis, UNC13D sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the UNC13D gene.
More info about this panel United States.
Hemophagocytic Lymphohistiocytosis 3 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the UNC13D gene.
More info about this panel Austria.
Hemophagocytic Lymphohistiocytosis 3 Panel
Slovakia.
By MedGene
This panel specifically test the UNC13D 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 type 3, Familial: UNC13D gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the UNC13D 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.
UNC13D Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the UNC13D 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.
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.
Familial hemophagocytic lymphohistiocytosis B Panel
Spain.
By Bioarray
This panel specifically test the UNC13D gene.
More info about this panel Spain.
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 3 , Sequencing UNC13D Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the UNC13D 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.
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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