Details of Disease

General Information of Disease (ID: DISJ8FVK)

Disease Name Familial hemophagocytic lymphohistiocytosis 4
Synonyms
hemophagocytic lymphohistiocytosis, familial, 4; Hlh4; Hplh4; familial hemophagocytic lymphohistiocytosis 4; FHL4; genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11; familial hemophagocytic lymphohistiocytosis type 4; HPLH4; hemophagocytic lymphohistiocytosis, familial, type 4; STX11 genetic hemophagocytic lymphohistiocytosis; HLH4
Definition Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.
Disease Hierarchy
DISQP21Z: Hereditary hemophagocytic lymphohistiocytosis
DISJ8FVK: Familial hemophagocytic lymphohistiocytosis 4
Disease Identifiers
MONDO ID
MONDO_0011336
MESH ID
C537252
UMLS CUI
C1863728
OMIM ID
603552
MedGen ID
350245

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STX11 OTHFRSFP Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.