Details of Disease | DrugMAP

General Information of Disease (ID: DISQPISX)

Disease Name	NIK deficiency
Synonyms	MAP3K14 non-severe combined immunodeficiency; non-severe combined immunodeficiency caused by mutation in MAP3K14; primary immunodeficiency with multifaceted aberrant lymphoid immunity
Definition	A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14).
Disease Hierarchy	DIS4IAP9: Non-SCID combined immunodeficiency DISQPISX: NIK deficiency
Disease Identifiers	MONDO ID MONDO_0018642 UMLS CUI C5680065 MedGen ID 1808868 Orphanet ID 447731 SNOMED CT ID 1197478005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MAP3K14	TT4LIAC	Moderate	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAP3K14	OTT3DOOL	Moderate	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.