Hemophagocytic lymphohistiocytosis, familial, 1

Preferred Label : Hemophagocytic lymphohistiocytosis, familial, 1;

Symbol : FHL1;

CISMeF acronym : FEL; FHL; FHLH; FHL1; HLH1; HPLH; HPLH1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : FEL; HLH1; Erythrophagocytic lymphohistiocytosis, familial; Hemophagocytic reticulosis, familial; Reticulosis, familial histiocytic; FHLH; HPLH; Hemophagocytic lymphohistiocytosis, familial; HPLH1; FHL;

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 Lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (603553) is caused by mutation in the PRF1 gene (170280), which maps to 10q22, and FHL3 (608898) is caused by mutation in the UNC13D gene (608897), which maps to 17q25.1. FHL4 (603552) is caused by mutation in the syntaxin-11 gene (STX11; 605014), and FHL5 (613101) is caused by mutation in the syntaxin-binding protein-2 (STXBP2; 601717), which is an interaction partner of STX11. Furthermore, before the definition of mutations in the RAG1 (179615) and RAG2 (179616) 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. Further genetic heterogeneity in familial hemophagocytic lymphohistiocytosis was suggested by a study in which FHL in 2 unrelated Canadian families with affected first cousins was not linked to 9q21.3-q22 or 10q21-q22 (Graham et al., 2000).;

Inheritance : Autosomal recessive;

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

Prefixed ID : %267700;

Details

Origin ID

267700;

UMLS CUI

C4551514;

Automatic exact mappings (from CISMeF team)
- CFH wt Allele [NCIt concept]
- Psychogenic deafness (disorder) [SNOMED CT concept]
- complement factor H [ORDO Gene]
- complement factor H [HGNC gene]
- four and a half LIM domains 1 [HGNC gene]
- four and a half LIM domains 1 [ORDO Gene]
- hemophagocytic lymphohistiocytosis 1 [HGNC gene]
Broader ORDO disease(s)
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
Currated CISMeF NLP mapping
- Familial Hemophagocytic Lymphohistiocytosis [NCIt concept]
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
- Familial hemophagocytic lymphohistiocytosis [MedDRA LLT]
- Familial hemophagocytic lymphohistiocytosis (disorder) [SNOMED CT concept]
- Familial histiocytic reticulosis [PASCAL descriptor]
- Hemophagocytic lymphohistiocytosis [ICD-10 Sub-category]
- familial hemophagocytic lymphocytosis [MeSH concept]
- familial hemophagocytic lymphohistiocytosis 1 [DO Concept]
- lymphohistiocytosis, hemophagocytic [MeSH Descriptor]
DO Cross reference
- familial hemophagocytic lymphohistiocytosis 1 [DO Concept]
HPO term(s)
- Anemia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- CSF pleocytosis [HPO term]
- Coma [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Failure to thrive [HPO term]
- Generalized edema [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hemiplegia [HPO term]
- Hemophagocytosis [HPO term]
- Hepatomegaly [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 LDL cholesterol concentration [HPO term]
- Increased VLDL cholesterol concentration [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Increased intracranial pressure [HPO term]
- Increased total bilirubin [HPO term]
- Infectious encephalitis [HPO term]
- Irritability [HPO term]
- Jaundice [HPO term]
- Leukopenia [HPO term]
- Lymphadenopathy [HPO term]
- Meningitis [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Prolonged prothrombin time [HPO term]
- Seizure [HPO term]
- Splenomegaly [HPO term]
- Tetraplegia [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hemophagocytic Lymphohistiocytosis [NCIt concept]
- Familial haemophagocytic lymphohistiocytosis [MedDRA Preferred Term]
- Familial hemophagocytic lymphohistiocytosis [MedDRA LLT]
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
- Familial hemophagocytic lymphohistiocytosis (disorder) [SNOMED CT concept]
- Primary hemophagocytic lymphohistiocytosis [ORDO Disease]
- familial hemophagocytic histiocytosis [SNOMED Notion]
- familial hemophagocytic lymphocytosis [MeSH concept]
Validated automatic mappings to NTBT
- Familial haemophagocytic lymphohistiocytosis [ICD-11 More detail]
- Primary hemophagocytic lymphohistiocytosis [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients