Details of Disease

General Information of Disease (ID: DISBO6K7)

Disease Name Familial hemophagocytic lymphohistiocytosis 3
Synonyms
Hlh3; Hplh3; hemophagocytic lymphohistiocytosis, familial, 3; UNC13D genetic hemophagocytic lymphohistiocytosis; HLH3; genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D; hemophagocytic lymphohistiocytosis, familial, type 3; familial hemophagocytic lymphohistiocytosis type 3; FHL3; HPLH3
Definition Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.
Disease Hierarchy
DISQP21Z: Hereditary hemophagocytic lymphohistiocytosis
DISBO6K7: Familial hemophagocytic lymphohistiocytosis 3
Disease Identifiers
MONDO ID
MONDO_0012146
UMLS CUI
C1837174
OMIM ID
608898
MedGen ID
332383

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
UNC13D OTQ8AU7C Definitive Autosomal recessive [1]
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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.