Details of Disease

General Information of Disease (ID: DISYPUU8)

Disease Name Immunodeficiency due to ficolin3 deficiency
Synonyms lectin complement activation pathway, defect in, 3; ficolin 3 deficiency; immunodeficiency due to ficolin 3 deficiency; Fcn3 deficiency
Disease Hierarchy
DIS0BGZK: Disorder of lectin complement activation pathway
DISYPUU8: Immunodeficiency due to ficolin3 deficiency
Disease Identifiers
MONDO ID
MONDO_0013467
UMLS CUI
C3151226
OMIM ID
613860
MedGen ID
462576
Orphanet ID
331190

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
FCN3 OTPRENLS Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.