Hemophagocytic lymphohistiocytosis, familial, 2

Preferred Label : Hemophagocytic lymphohistiocytosis, familial, 2;

Symbol : FHL2;

CISMeF acronym : FHL2; HLH2; HPLH2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HLH2; HPLH2;

Description : Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; 147570) and TNF-alpha (191160), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see 267700.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the perforin 1 gene (PRF1, 170280.0001);

Laboratory abnormalities : Hypertriglyceridemia; Increased LDL; Increased VLDL; Increased protein in CSF; Hypofibrinogenemia; Increased alanine aminotransferase; Increased total bilirubin; Hyponatremia; Hypoproteinemia; Hypoalbuminemia; Prolonged prothrombin time; Increased serum ferritin level; Decreased HDL; CSF pleocytosis, particularly of lymphocytes;

Prefixed ID : #603553;

Details

Origin ID

603553;

UMLS CUI

C1863727;

Automatic exact mappings (from CISMeF team)
- FHL2 Gene [NCIt concept]
Broader ORDO disease(s)
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
Currated CISMeF NLP mapping
- Hemophagocytic lymphohistiocytosis, familial, 2 [MeSH concept]
- familial hemophagocytic lymphohistiocytosis 2 [DO Concept]
- hemophagocytic lymphohistiocytosis, familial, 2 [MeSH Supplementary Concept]
DO Cross reference
- familial hemophagocytic lymphohistiocytosis 2 [DO Concept]
Genes related to phenotype
- Perforin 1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS demyelination [HPO term]
- CSF pleocytosis [HPO term]
- Coma [HPO term]
- Edema [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Fever [HPO term]
- Generalized edema [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hemiplegia [HPO term]
- Hemophagocytosis [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypertonia [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypoalbuminemia [HPO term]
- Hypofibrinogenemia [HPO term]
- Hyponatremia [HPO term]
- Hypoproteinemia [HPO term]
- Hypotonia [HPO term]
- Increased CSF protein [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Increased intracranial pressure [HPO term]
- Increased total bilirubin [HPO term]
- Infantile onset [HPO term]
- Infectious encephalitis [HPO term]
- Irritability [HPO term]
- Jaundice [HPO term]
- Leukopenia [HPO term]
- Lymphadenopathy [HPO term]
- Meningitis [HPO term]
- Pancytopenia [HPO term]
- Prolonged prothrombin time [HPO term]
- Recurrent fever [HPO term]
- Reduced natural killer cell activity [HPO term]
- Seizure [HPO term]
- Skin rash [HPO term]
- Splenomegaly [HPO term]
- Tetraplegia [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
See also inter- (CISMeF)
- Four and a Half LIM Domains Protein 2 [NCIt concept]
- PRF1 wt Allele [NCIt concept]
- four and a half LIM domains 2 [HGNC gene]
- four and a half LIM domains 2 [ORDO Gene]
- perforin 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hemophagocytic Lymphohistiocytosis Type 2 [NCIt concept]
- Hemophagocytic lymphohistiocytosis, familial, 2 [MeSH concept]
- familial hemophagocytic lymphohistiocytosis 2 [DO Concept]
- hemophagocytic lymphohistiocytosis, familial, 2 [MeSH Supplementary Concept]

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