Hemophagocytic Lymphohistiocytosis, Familial, 1; Fhl1

Description

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

Clinical Features

Top most frequent phenotypes and symptoms related to Hemophagocytic Lymphohistiocytosis, Familial, 1; Fhl1

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia
  • Anemia
  • Hepatomegaly
  • Fever

And another 67 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, 1; Fhl1 Is also known as hemophagocytic reticulosis, familial, hlh1, hemophagocytic lymphohistiocytosis, familial, erythrophagocytic lymphohistiocytosis, familial, reticulosis, familial histiocytic, hplh1, fhl, fhlh, hplh, fel.

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, 1; Fhl1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
STXBP2 Sequencing.

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

STXBP2
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 %
STXBP2 Deletion/duplication analysis.

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

STXBP2
Specificity
100 %
Genes
100 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLM, SH2D1A, BRCA1, BRCA2, STXBP2, FAS, CD27, FASLG, WAS, IKZF1, CASP10, CARD11, TNFRSF13B, ADA, DOCK8, CTLA4, MAGT1, ITK, NBN, NF1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
STXBP2.

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

STXBP2
Specificity
100 %
Genes
100 %
STXBP2. Complete sequencing.

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

STXBP2
Specificity
100 %
Genes
100 %
Familial Hemophagocytic Lymphohistiocytosis 5 (sequence analysis of STXBP2 gene).

By CGC Genetics (Portugal).

STXBP2
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TREMOR, HEREDITARY ESSENTIAL, 5; ETM5 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11 MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

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