Hemophagocytic Lymphohistiocytosis, Familial, 4; Fhl4

Description

Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R ). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.

Clinical Features

Top most frequent phenotypes and symptoms related to Hemophagocytic Lymphohistiocytosis, Familial, 4; Fhl4

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Thrombocytopenia
  • Hepatosplenomegaly
  • Neutropenia

And another 4 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, 4; Fhl4 Is also known as hlh4, hplh4.

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, 4; Fhl4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
STX11 Sequencing.

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

STX11
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 %
STX11 Deletion/duplication analysis.

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

STX11
Specificity
100 %
Genes
100 %
STX11.

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

STX11
Specificity
100 %
Genes
100 %
STX11. Complete sequencing.

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

STX11
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 %
Hemophagocytic lymphohistiocytosis familial 4 (sequence analysis of STX11 gene).

By CGC Genetics (Portugal).

STX11
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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