MCID: NKD001
MIFTS: 7

Nik Deficiency

Categories: Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Nik Deficiency

MalaCards integrated aliases for Nik Deficiency:

Name: Nik Deficiency 59 6
Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity 59

Characteristics:

Orphanet epidemiological data:

59
nik deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Orphanet 59 ORPHA447731
ICD10 via Orphanet 34 D81.8

Summaries for Nik Deficiency

MalaCards based summary : Nik Deficiency, is also known as primary immunodeficiency with multifaceted aberrant lymphoid immunity. An important gene associated with Nik Deficiency is MAP3K14 (Mitogen-Activated Protein Kinase Kinase Kinase 14).

Related Diseases for Nik Deficiency

Symptoms & Phenotypes for Nik Deficiency

Drugs & Therapeutics for Nik Deficiency

Search Clinical Trials , NIH Clinical Center for Nik Deficiency

Genetic Tests for Nik Deficiency

Anatomical Context for Nik Deficiency

Publications for Nik Deficiency

Articles related to Nik Deficiency:

# Title Authors Year
1
Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity. ( 25406581 )
2014

Variations for Nik Deficiency

ClinVar genetic disease variations for Nik Deficiency:

6
(show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAP3K14 NM_003954.4(MAP3K14): c.132C> T (p.Ala44=) single nucleotide variant Benign rs55740287 GRCh37 Chromosome 17, 43367980: 43367980
2 MAP3K14 NM_003954.4(MAP3K14): c.132C> T (p.Ala44=) single nucleotide variant Benign rs55740287 GRCh38 Chromosome 17, 45290614: 45290614
3 MAP3K14 NM_003954.4(MAP3K14): c.2820T> C (p.His940=) single nucleotide variant Likely benign rs751517422 GRCh37 Chromosome 17, 43342027: 43342027
4 MAP3K14 NM_003954.4(MAP3K14): c.2820T> C (p.His940=) single nucleotide variant Likely benign rs751517422 GRCh38 Chromosome 17, 45264660: 45264660
5 MAP3K14 NM_003954.4(MAP3K14): c.764C> T (p.Thr255Met) single nucleotide variant Likely benign rs11574820 GRCh38 Chromosome 17, 45286819: 45286819
6 MAP3K14 NM_003954.4(MAP3K14): c.764C> T (p.Thr255Met) single nucleotide variant Likely benign rs11574820 GRCh37 Chromosome 17, 43364186: 43364186
7 MAP3K14 NM_003954.4(MAP3K14): c.2290A> G (p.Thr764Ala) single nucleotide variant Likely benign rs56302559 GRCh38 Chromosome 17, 45267442: 45267442
8 MAP3K14 NM_003954.4(MAP3K14): c.2290A> G (p.Thr764Ala) single nucleotide variant Likely benign rs56302559 GRCh37 Chromosome 17, 43344809: 43344809
9 MAP3K14 NM_003954.4(MAP3K14): c.1546G> A (p.Val516Ile) single nucleotide variant Likely benign rs367938510 GRCh38 Chromosome 17, 45274129: 45274129
10 MAP3K14 NM_003954.4(MAP3K14): c.1546G> A (p.Val516Ile) single nucleotide variant Likely benign rs367938510 GRCh37 Chromosome 17, 43351496: 43351496
11 MAP3K14 NM_003954.4(MAP3K14): c.916T> C (p.Cys306Arg) single nucleotide variant Uncertain significance rs766805198 GRCh38 Chromosome 17, 45286667: 45286667
12 MAP3K14 NM_003954.4(MAP3K14): c.916T> C (p.Cys306Arg) single nucleotide variant Uncertain significance rs766805198 GRCh37 Chromosome 17, 43364034: 43364034
13 MAP3K14 NM_003954.4(MAP3K14): c.880A> C (p.Lys294Gln) single nucleotide variant Likely benign rs113278485 GRCh37 Chromosome 17, 43364070: 43364070
14 MAP3K14 NM_003954.4(MAP3K14): c.880A> C (p.Lys294Gln) single nucleotide variant Likely benign rs113278485 GRCh38 Chromosome 17, 45286703: 45286703
15 MAP3K14 NM_003954.4(MAP3K14): c.820C> T (p.Pro274Ser) single nucleotide variant Uncertain significance rs747466210 GRCh37 Chromosome 17, 43364130: 43364130
16 MAP3K14 NM_003954.4(MAP3K14): c.820C> T (p.Pro274Ser) single nucleotide variant Uncertain significance rs747466210 GRCh38 Chromosome 17, 45286763: 45286763
17 MAP3K14 NM_003954.4(MAP3K14): c.774C> G (p.Phe258Leu) single nucleotide variant Benign rs148344770 GRCh38 Chromosome 17, 45286809: 45286809
18 MAP3K14 NM_003954.4(MAP3K14): c.774C> G (p.Phe258Leu) single nucleotide variant Benign rs148344770 GRCh37 Chromosome 17, 43364176: 43364176
19 MAP3K14 NM_003954.4(MAP3K14): c.521G> A (p.Cys174Tyr) single nucleotide variant Benign rs184263319 GRCh37 Chromosome 17, 43364536: 43364536
20 MAP3K14 NM_003954.4(MAP3K14): c.521G> A (p.Cys174Tyr) single nucleotide variant Benign rs184263319 GRCh38 Chromosome 17, 45287170: 45287170
21 MAP3K14 NM_003954.4(MAP3K14): c.2292C> T (p.Thr764=) single nucleotide variant Likely benign rs746706058 GRCh37 Chromosome 17, 43344807: 43344807
22 MAP3K14 NM_003954.4(MAP3K14): c.2292C> T (p.Thr764=) single nucleotide variant Likely benign rs746706058 GRCh38 Chromosome 17, 45267440: 45267440
23 MAP3K14 NM_003954.4(MAP3K14): c.1290+5G> A single nucleotide variant Uncertain significance rs781259100 GRCh38 Chromosome 17, 45284807: 45284807
24 MAP3K14 NM_003954.4(MAP3K14): c.1290+5G> A single nucleotide variant Uncertain significance rs781259100 GRCh37 Chromosome 17, 43362174: 43362174
25 MAP3K14 NM_003954.4(MAP3K14): c.1009C> T (p.Leu337=) single nucleotide variant Likely benign rs374376396 GRCh38 Chromosome 17, 45286574: 45286574
26 MAP3K14 NM_003954.4(MAP3K14): c.1009C> T (p.Leu337=) single nucleotide variant Likely benign rs374376396 GRCh37 Chromosome 17, 43363941: 43363941
27 MAP3K14 NM_003954.4(MAP3K14): c.2434-10G> A single nucleotide variant Benign rs34836788 GRCh38 Chromosome 17, 45266691: 45266691
28 MAP3K14 NM_003954.4(MAP3K14): c.2434-10G> A single nucleotide variant Benign rs34836788 GRCh37 Chromosome 17, 43344058: 43344058
29 MAP3K14 NM_003954.4(MAP3K14): c.2020C> T (p.His674Tyr) single nucleotide variant Benign rs11867907 GRCh38 Chromosome 17, 45267712: 45267712
30 MAP3K14 NM_003954.4(MAP3K14): c.2020C> T (p.His674Tyr) single nucleotide variant Benign rs11867907 GRCh37 Chromosome 17, 43345079: 43345079
31 MAP3K14 NM_003954.4(MAP3K14): c.823T> C (p.Trp275Arg) single nucleotide variant Uncertain significance rs373635359 GRCh37 Chromosome 17, 43364127: 43364127
32 MAP3K14 NM_003954.4(MAP3K14): c.823T> C (p.Trp275Arg) single nucleotide variant Uncertain significance rs373635359 GRCh38 Chromosome 17, 45286760: 45286760
33 MAP3K14 NM_003954.4(MAP3K14): c.555C> T (p.Leu185=) single nucleotide variant Likely benign rs191629489 GRCh37 Chromosome 17, 43364394: 43364394
34 MAP3K14 NM_003954.4(MAP3K14): c.555C> T (p.Leu185=) single nucleotide variant Likely benign rs191629489 GRCh38 Chromosome 17, 45287028: 45287028
35 MAP3K14 NM_003954.4(MAP3K14): c.2312A> C (p.Gln771Pro) single nucleotide variant Uncertain significance rs148416800 GRCh37 Chromosome 17, 43344787: 43344787
36 MAP3K14 NM_003954.4(MAP3K14): c.2312A> C (p.Gln771Pro) single nucleotide variant Uncertain significance rs148416800 GRCh38 Chromosome 17, 45267420: 45267420
37 MAP3K14 NM_003954.4(MAP3K14): c.1587C> T (p.His529=) single nucleotide variant Likely benign rs562409633 GRCh38 Chromosome 17, 45273573: 45273573
38 MAP3K14 NM_003954.4(MAP3K14): c.1587C> T (p.His529=) single nucleotide variant Likely benign rs562409633 GRCh37 Chromosome 17, 43350940: 43350940
39 MAP3K14 NM_003954.4(MAP3K14): c.419G> A (p.Ser140Asn) single nucleotide variant Benign rs11574819 GRCh37 Chromosome 17, 43364638: 43364638
40 MAP3K14 NM_003954.4(MAP3K14): c.419G> A (p.Ser140Asn) single nucleotide variant Benign rs11574819 GRCh38 Chromosome 17, 45287272: 45287272
41 MAP3K14 NM_003954.4(MAP3K14): c.326+10G> A single nucleotide variant Benign rs372339711 GRCh38 Chromosome 17, 45289226: 45289226
42 MAP3K14 NM_003954.4(MAP3K14): c.326+10G> A single nucleotide variant Benign rs372339711 GRCh37 Chromosome 17, 43366592: 43366592
43 MAP3K14 NM_003954.4(MAP3K14): c.296G> A (p.Arg99His) single nucleotide variant Uncertain significance rs762182665 GRCh38 Chromosome 17, 45289266: 45289266
44 MAP3K14 NM_003954.4(MAP3K14): c.296G> A (p.Arg99His) single nucleotide variant Uncertain significance rs762182665 GRCh37 Chromosome 17, 43366632: 43366632

Expression for Nik Deficiency

Search GEO for disease gene expression data for Nik Deficiency.

Pathways for Nik Deficiency

GO Terms for Nik Deficiency

Sources for Nik Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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