Hemophagocytic lymphohistiocytosis, familial, 3

Preferred Label : Hemophagocytic lymphohistiocytosis, familial, 3;

Symbol : FHL3;

CISMeF acronym : FHL3; HLH3; HPLH3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HLH3; HPLH3;

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 (170280)-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis (HPLH) is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of HPLH, see 267700.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the unc-13 homolog D gene (UNC13D, 608897.0001);

Laboratory abnormalities : Low fibrinogen levels; Hypertriglyceridemia;

Prefixed ID : #608898;

Details

Origin ID

608898;

UMLS CUI

C1837174;

Broader ORDO disease(s)
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
Currated CISMeF NLP mapping
- Hemophagocytic lymphohistiocytosis, familial, 3 [MeSH concept]
- familial hemophagocytic lymphohistiocytosis 3 [DO Concept]
- hemophagocytic lymphohistiocytosis, familial, 3 [MeSH Supplementary Concept]
DO Cross reference
- familial hemophagocytic lymphohistiocytosis 3 [DO Concept]
Genes related to phenotype
- Unc13 homolog D [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Fever [HPO term]
- Granulocytopenia [HPO term]
- Hemophagocytosis [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypofibrinogenemia [HPO term]
- Reduced natural killer cell activity [HPO term]
ORDO concept(s)
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
See also inter- (CISMeF)
- UNC13D wt Allele [NCIt concept]
- four and a half LIM domains 3 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hemophagocytic Lymphohistiocytosis Type 3 [NCIt concept]
- Hemophagocytic lymphohistiocytosis, familial, 3 [MeSH concept]
- familial hemophagocytic lymphohistiocytosis 3 [DO Concept]
- hemophagocytic lymphohistiocytosis, familial, 3 [MeSH Supplementary Concept]

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