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
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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


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

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

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

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

UNC13D Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the UNC13D gene.

More info about this panel

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

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

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

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

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

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

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

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

UNC13D Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the UNC13D gene.

More info about this panel

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

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

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

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

Single gene testing UNC13D Panel

Germany.

By CeGaT GmbH

This panel specifically test the UNC13D gene.

More info about this panel

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

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

Hemophagocytic Lymphohistiocytosis 3 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the UNC13D gene.

More info about this panel

Hemophagocytic Lymphohistiocytosis 3 Panel

Slovakia.

By MedGene

This panel specifically test the UNC13D gene.

More info about this panel

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

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

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

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

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

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

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

UNC13D Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the UNC13D gene.

More info about this panel

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

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

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

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

Familial hemophagocytic lymphohistiocytosis B Panel

Spain.

By Bioarray

This panel specifically test the UNC13D gene.

More info about this panel

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

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

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

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

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


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