Hemophagocytic Lymphohistiocytosis, Familial, 3; Fhl3

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}.

Clinical Features

Top most frequent phenotypes and symptoms related to Hemophagocytic Lymphohistiocytosis, Familial, 3; Fhl3

  • Anemia
  • Fever
  • Hepatosplenomegaly
  • Pancytopenia
  • Hypertriglyceridemia
  • Decreased liver function
  • Abnormality of coagulation
  • Hemophagocytosis
  • Granulocytopenia
  • Hypofibrinogenemia

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hemophagocytic Lymphohistiocytosis, Familial, 3; Fhl3 Is also known as hplh3, hlh3.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hemophagocytic Lymphohistiocytosis, Familial, 3; Fhl3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MUNC13-4 (UNC13D) Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

UNC13D
Specificity
100 %
Genes
100 %
Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SH2D1A, SLC7A7, STX11, STXBP2, CD27, LYST, UNC13D, MAGT1, GATA2, AP3B1, XIAP, ITK, BLOC1S6, PRF1, RAB27A
Specificity
7 %
Genes
100 %
Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SH2D1A, SLC7A7, STX11, STXBP2, CD27, LYST, UNC13D, MAGT1, AP3B1, XIAP, ITK, BLOC1S6, PRF1, RAB27A
Specificity
8 %
Genes
100 %
MUNC13-4 (UNC13D) Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

UNC13D
Specificity
100 %
Genes
100 %
UNC13D.

By Institute for Human Genetics University Clinic Freiburg (Germany).

UNC13D
Specificity
100 %
Genes
100 %
UNC13D. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

UNC13D
Specificity
100 %
Genes
100 %
Familial Hemophagocytic Lymphohistiocytosis 3 (sequence analysis of UNC13D gene).

By CGC Genetics (Portugal).

UNC13D
Specificity
100 %
Genes
100 %
Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (NGS panel for 7 genes).

By CGC Genetics (Portugal).

STX11, STXBP2, DCLRE1C, UNC13D, PRF1, RAG1, RAG2
Specificity
15 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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