Hemophagocytic lymphohistiocytosis, familial, 4

Preferred Label : Hemophagocytic lymphohistiocytosis, familial, 4;

Symbol : FHL4;

CISMeF acronym : FHL4; HLH4; HPLH4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HLH4; HPLH4;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the syntaxin 11 gene (STX11, 605014.0001);

Neoplasia : Increased risk of myelodysplastic syndrome or leukemia (in some patients);

Laboratory abnormalities : Decreased fibrinogen; Increased ferritin; Increased soluble IL2 receptor; Increased triglycerides;

Prefixed ID : #603552;

Details

Origin ID

603552;

UMLS CUI

C1863728;

Automatic exact mappings (from CISMeF team)
- STX11 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
Currated CISMeF NLP mapping
- Hemophagocytic lymphohistiocytosis, familial, 4 [MeSH concept]
- familial hemophagocytic lymphohistiocytosis 4 [DO Concept]
- hemophagocytic lymphohistiocytosis, familial, 4 [MeSH Supplementary Concept]
DO Cross reference
- familial hemophagocytic lymphohistiocytosis 4 [DO Concept]
Genes related to phenotype
- Syntaxin 11 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Conjunctivitis [HPO term]
- Edema [HPO term]
- Fever [HPO term]
- Global developmental delay [HPO term]
- Hemophagocytosis [HPO term]
- Hepatomegaly [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypofibrinogenemia [HPO term]
- Hypotonia [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Infantile onset [HPO term]
- Jaundice [HPO term]
- Lymphadenopathy [HPO term]
- Neutropenia [HPO term]
- Recurrent fever [HPO term]
- Seizure [HPO term]
- Skin rash [HPO term]
- Splenomegaly [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 Type 4 [NCIt concept]
- Hemophagocytic lymphohistiocytosis, familial, 4 [MeSH concept]
- familial hemophagocytic lymphohistiocytosis 4 [DO Concept]
- hemophagocytic lymphohistiocytosis, familial, 4 [MeSH Supplementary Concept]

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