MCID: NKD001
MIFTS: 9

Nik Deficiency

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Nik Deficiency

MalaCards integrated aliases for Nik Deficiency:

Name: Nik Deficiency 60 6
Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity 60

Characteristics:

Orphanet epidemiological data:

60
nik deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 35 D81.8
Orphanet 60 ORPHA447731

Summaries for Nik Deficiency

MalaCards based summary : Nik Deficiency, also known as primary immunodeficiency with multifaceted aberrant lymphoid immunity, is related to hematopoietic stem cell transplantation. An important gene associated with Nik Deficiency is MAP3K14 (Mitogen-Activated Protein Kinase Kinase Kinase 14). Affiliated tissues include lymph node.

Related Diseases for Nik Deficiency

Diseases related to Nik Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hematopoietic stem cell transplantation 9.9

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

MalaCards organs/tissues related to Nik Deficiency:

42
Lymph Node

Publications for Nik Deficiency

Articles related to Nik Deficiency:

# Title Authors Year
1
Immunologic reconstitution following hematopoietic stem cell transplantation despite lymph node paucity in NIK deficiency. ( 30445060 )
2018

Variations for Nik Deficiency

ClinVar genetic disease variations for Nik Deficiency:

6 (show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAP3K14 NM_003954.5(MAP3K14): c.132C> T (p.Ala44=) single nucleotide variant Benign rs55740287 GRCh37 Chromosome 17, 43367980: 43367980
2 MAP3K14 NM_003954.5(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_003954.5(MAP3K14): c.764C> T (p.Thr255Met) single nucleotide variant Likely benign rs11574820 GRCh38 Chromosome 17, 45286819: 45286819
6 MAP3K14 NM_003954.5(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_003954.5(MAP3K14): c.1546G> A (p.Val516Ile) single nucleotide variant Likely benign rs367938510 GRCh37 Chromosome 17, 43351496: 43351496
10 MAP3K14 NM_003954.5(MAP3K14): c.1546G> A (p.Val516Ile) single nucleotide variant Likely benign rs367938510 GRCh38 Chromosome 17, 45274129: 45274129
11 MAP3K14 NM_003954.5(MAP3K14): c.916T> C (p.Cys306Arg) single nucleotide variant Uncertain significance rs766805198 GRCh37 Chromosome 17, 43364034: 43364034
12 MAP3K14 NM_003954.5(MAP3K14): c.916T> C (p.Cys306Arg) single nucleotide variant Uncertain significance rs766805198 GRCh38 Chromosome 17, 45286667: 45286667
13 MAP3K14 NM_003954.5(MAP3K14): c.880A> C (p.Lys294Gln) single nucleotide variant Likely benign rs113278485 GRCh37 Chromosome 17, 43364070: 43364070
14 MAP3K14 NM_003954.5(MAP3K14): c.880A> C (p.Lys294Gln) single nucleotide variant Likely benign rs113278485 GRCh38 Chromosome 17, 45286703: 45286703
15 MAP3K14 NM_003954.5(MAP3K14): c.820C> T (p.Pro274Ser) single nucleotide variant Uncertain significance rs747466210 GRCh37 Chromosome 17, 43364130: 43364130
16 MAP3K14 NM_003954.5(MAP3K14): c.820C> T (p.Pro274Ser) single nucleotide variant Uncertain significance rs747466210 GRCh38 Chromosome 17, 45286763: 45286763
17 MAP3K14 NM_003954.5(MAP3K14): c.774C> G (p.Phe258Leu) single nucleotide variant Benign rs148344770 GRCh37 Chromosome 17, 43364176: 43364176
18 MAP3K14 NM_003954.5(MAP3K14): c.774C> G (p.Phe258Leu) single nucleotide variant Benign rs148344770 GRCh38 Chromosome 17, 45286809: 45286809
19 MAP3K14 NM_003954.5(MAP3K14): c.521G> A (p.Cys174Tyr) single nucleotide variant Benign rs184263319 GRCh37 Chromosome 17, 43364536: 43364536
20 MAP3K14 NM_003954.5(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_003954.5(MAP3K14): c.1290+5G> A single nucleotide variant Uncertain significance rs781259100 GRCh37 Chromosome 17, 43362174: 43362174
24 MAP3K14 NM_003954.5(MAP3K14): c.1290+5G> A single nucleotide variant Uncertain significance rs781259100 GRCh38 Chromosome 17, 45284807: 45284807
25 MAP3K14 NM_003954.5(MAP3K14): c.1009C> T (p.Leu337=) single nucleotide variant Likely benign rs374376396 GRCh37 Chromosome 17, 43363941: 43363941
26 MAP3K14 NM_003954.5(MAP3K14): c.1009C> T (p.Leu337=) single nucleotide variant Likely benign rs374376396 GRCh38 Chromosome 17, 45286574: 45286574
27 MAP3K14 NM_003954.4(MAP3K14): c.2434-10G> A single nucleotide variant Benign rs34836788 GRCh37 Chromosome 17, 43344058: 43344058
28 MAP3K14 NM_003954.4(MAP3K14): c.2434-10G> A single nucleotide variant Benign rs34836788 GRCh38 Chromosome 17, 45266691: 45266691
29 MAP3K14 NM_003954.4(MAP3K14): c.2020C> T (p.His674Tyr) single nucleotide variant Benign rs11867907 GRCh37 Chromosome 17, 43345079: 43345079
30 MAP3K14 NM_003954.4(MAP3K14): c.2020C> T (p.His674Tyr) single nucleotide variant Benign rs11867907 GRCh38 Chromosome 17, 45267712: 45267712
31 MAP3K14 NM_003954.5(MAP3K14): c.823T> C (p.Trp275Arg) single nucleotide variant Uncertain significance rs373635359 GRCh37 Chromosome 17, 43364127: 43364127
32 MAP3K14 NM_003954.5(MAP3K14): c.823T> C (p.Trp275Arg) single nucleotide variant Uncertain significance rs373635359 GRCh38 Chromosome 17, 45286760: 45286760
33 MAP3K14 NM_003954.5(MAP3K14): c.555C> T (p.Leu185=) single nucleotide variant Likely benign rs191629489 GRCh38 Chromosome 17, 45287028: 45287028
34 MAP3K14 NM_003954.5(MAP3K14): c.555C> T (p.Leu185=) single nucleotide variant Likely benign rs191629489 GRCh37 Chromosome 17, 43364394: 43364394
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_003954.5(MAP3K14): c.1587C> T (p.His529=) single nucleotide variant Likely benign rs562409633 GRCh37 Chromosome 17, 43350940: 43350940
38 MAP3K14 NM_003954.5(MAP3K14): c.1587C> T (p.His529=) single nucleotide variant Likely benign rs562409633 GRCh38 Chromosome 17, 45273573: 45273573
39 MAP3K14 NM_003954.5(MAP3K14): c.419G> A (p.Ser140Asn) single nucleotide variant Benign rs11574819 GRCh37 Chromosome 17, 43364638: 43364638
40 MAP3K14 NM_003954.5(MAP3K14): c.419G> A (p.Ser140Asn) single nucleotide variant Benign rs11574819 GRCh38 Chromosome 17, 45287272: 45287272
41 MAP3K14 NM_003954.5(MAP3K14): c.326+10G> A single nucleotide variant Benign rs372339711 GRCh37 Chromosome 17, 43366592: 43366592
42 MAP3K14 NM_003954.5(MAP3K14): c.326+10G> A single nucleotide variant Benign rs372339711 GRCh38 Chromosome 17, 45289226: 45289226
43 MAP3K14 NM_003954.5(MAP3K14): c.296G> A (p.Arg99His) single nucleotide variant Uncertain significance rs762182665 GRCh37 Chromosome 17, 43366632: 43366632
44 MAP3K14 NM_003954.5(MAP3K14): c.296G> A (p.Arg99His) single nucleotide variant Uncertain significance rs762182665 GRCh38 Chromosome 17, 45289266: 45289266
45 MAP3K14 NM_003954.5(MAP3K14): c.2779G> A (p.Ala927Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 43342068: 43342068
46 MAP3K14 NM_003954.5(MAP3K14): c.2779G> A (p.Ala927Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 45264701: 45264701
47 MAP3K14 NM_003954.5(MAP3K14): c.2433+3G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 45267089: 45267089
48 MAP3K14 NM_003954.5(MAP3K14): c.2433+3G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 43344456: 43344456
49 MAP3K14 NM_003954.5(MAP3K14): c.643G> A (p.Glu215Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 43364306: 43364306
50 MAP3K14 NM_003954.5(MAP3K14): c.643G> A (p.Glu215Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 45286940: 45286940

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
36 ICD9CM
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38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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