MCID: NKC001
MIFTS: 37

Nk-Cell Enteropathy

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Nk-Cell Enteropathy

MalaCards integrated aliases for Nk-Cell Enteropathy:

Name: Nk-Cell Enteropathy 58 6

Characteristics:

Orphanet epidemiological data:

58
nk-cell enteropathy
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


Summaries for Nk-Cell Enteropathy

MalaCards based summary : Nk-Cell Enteropathy is related to lymphoma and crohn's colitis. An important gene associated with Nk-Cell Enteropathy is JAK3 (Janus Kinase 3), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Pathways in cancer. Affiliated tissues include nk cells, t cells and colon, and related phenotypes are edema and lymphoproliferative disorder

Related Diseases for Nk-Cell Enteropathy

Graphical network of the top 20 diseases related to Nk-Cell Enteropathy:



Diseases related to Nk-Cell Enteropathy

Symptoms & Phenotypes for Nk-Cell Enteropathy

Human phenotypes related to Nk-Cell Enteropathy:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000969
2 lymphoproliferative disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0005523
3 increased t cell count 31 hallmark (90%) HP:0100828
4 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
5 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
6 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
7 colonic diverticula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002253
8 hematochezia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002573
9 gastric ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0002592
10 duodenal ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0002588
11 intestinal polyp 58 31 occasional (7.5%) Occasional (29-5%) HP:0005266
12 stercoral ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0012425
13 abnormality of the gastric mucosa 58 Occasional (29-5%)
14 diarrhea 58 Occasional (29-5%)
15 increase in t cell count 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Nk-Cell Enteropathy according to GeneCards Suite gene sharing:

26 (show top 50) (show all 75)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.96 AURKB
2 Decreased viability GR00221-A-1 10.96 AXL IGF1R AURKB PIK3CB SMARCB1
3 Decreased viability GR00221-A-2 10.96 AXL IGF1R AURKB CHEK2 SMARCB1
4 Decreased viability GR00221-A-3 10.96 IGF1R CHEK2 PIK3CB SMARCB1 JAK3
5 Decreased viability GR00221-A-4 10.96 AXL AURKB CHEK2 PIK3CB
6 Decreased viability GR00249-S 10.96 AURKB SMARCB1
7 Decreased viability GR00301-A 10.96 AXL ERBB4 IGF1R
8 Decreased viability GR00342-S-1 10.96 ERBB4
9 Decreased viability GR00342-S-2 10.96 IGF1R CHEK2
10 Decreased viability GR00381-A-1 10.96 PIK3CB SMARCB1
11 Decreased viability GR00402-S-2 10.96 IGF1R PIK3CB JAK3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.5 JAK3
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.5 PIK3CB
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-114 10.5 IGF1R
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-127 10.5 IGF1R
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.5 IGF1R
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.5 CHEK2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 10.5 IGF1R
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.5 IGF1R
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.5 JAK3
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-199 10.5 IGF1R
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-207 10.5 CHEK2
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.5 IGF1R
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 10.5 JAK3
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.5 CHEK2
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.5 IGF1R JAK3
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-47 10.5 IGF1R
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.5 CHEK2
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-51 10.5 PIK3CB
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 10.5 PIK3CB
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 10.5 JAK3
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.5 CHEK2
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 10.5 IGF1R
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.5 JAK3
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.5 IGF1R
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 10.5 PIK3CB
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 10.5 PIK3CB
38 Decreased substrate adherent cell growth GR00193-A-1 9.97 AXL IGF1R
39 Decreased substrate adherent cell growth GR00193-A-2 9.97 AURKB
40 Decreased substrate adherent cell growth GR00193-A-3 9.97 AXL CHEK2
41 Decreased substrate adherent cell growth GR00193-A-4 9.97 AURKB AXL CHEK2 IGF1R
42 Increased shRNA abundance (Z-score > 2) GR00366-A-1 9.85 CHEK2
43 Increased shRNA abundance (Z-score > 2) GR00366-A-10 9.85 AURKB
44 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.85 JAK3
45 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.85 CHEK2
46 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.85 CHEK2
47 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.85 CHEK2
48 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.85 CHEK2
49 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.85 AURKB
50 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.85 PIK3CB

MGI Mouse Phenotypes related to Nk-Cell Enteropathy:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 AURKB AXL CHEK2 CUL3 ERBB4 IGF1R
2 cardiovascular system MP:0005385 10.25 AURKB AXL CUL3 ERBB4 IGF1R JAK3
3 growth/size/body region MP:0005378 10.13 AURKB CIC CUL3 IGF1R PIK3CB PTPRS
4 mortality/aging MP:0010768 10.13 AURKB AXL CHEK2 CIC CUL3 ERBB4
5 hematopoietic system MP:0005397 10.11 AXL CHEK2 ERBB4 IGF1R JAK3 PIK3CB
6 endocrine/exocrine gland MP:0005379 10.1 AXL CHEK2 ERBB4 IGF1R JAK3 PIK3CB
7 integument MP:0010771 10.06 AURKB AXL ERBB4 IGF1R PIK3CB PTPRS
8 embryo MP:0005380 10.05 AURKB CUL3 ERBB4 IGF1R PIK3CB SETD5
9 immune system MP:0005387 10.03 AXL CHEK2 ERBB4 IGF1R JAK3 RUNX1T1
10 digestive/alimentary MP:0005381 10 IGF1R JAK3 PTPRS RUNX1T1 SETD5 SMARCB1
11 liver/biliary system MP:0005370 9.85 AXL CUL3 IGF1R PIK3CB SETD5 SMARCB1
12 muscle MP:0005369 9.73 CUL3 ERBB4 IGF1R PTPRS SETD5 SMARCB1
13 nervous system MP:0003631 9.56 AXL CHEK2 CIC ERBB4 IGF1R PTPRS
14 neoplasm MP:0002006 9.55 AURKB CHEK2 IGF1R PIK3CB SMARCB1
15 reproductive system MP:0005389 9.23 AURKB AXL CHEK2 ERBB4 IGF1R PTPRS

Drugs & Therapeutics for Nk-Cell Enteropathy

Search Clinical Trials , NIH Clinical Center for Nk-Cell Enteropathy

Genetic Tests for Nk-Cell Enteropathy

Anatomical Context for Nk-Cell Enteropathy

MalaCards organs/tissues related to Nk-Cell Enteropathy:

40
Nk Cells, T Cells, Colon

Publications for Nk-Cell Enteropathy

Articles related to Nk-Cell Enteropathy:

# Title Authors PMID Year
1
Update on lymphoproliferative disorders of the gastrointestinal tract: disease spectrum from indolent lymphoproliferations to aggressive lymphomas. 61
31773249 2020
2
An Enteropathy-like Indolent NK-Cell Proliferation Presenting in the Female Genital Tract. 61
31609783 2020
3
T- and NK-cell lymphoproliferative disorders of the gastrointestinal tract: review and update. 61
31727264 2020
4
Recurrent somatic JAK3 mutations in NK-cell enteropathy. 61
31383643 2019
5
NK-cell enteropathy, a potential diagnostic pitfall of intestinal lymphoproliferative disease. 61
30819538 2019
6
NK-Cell Enteropathy and Similar Indolent Lymphoproliferative Disorders: A Case Series With Literature Review. 61
30212873 2019
7
NK cell enteropathy: a case report with 10 years of indolent clinical behaviour. 61
29474745 2018
8
Early lymphoid lesions: conceptual, diagnostic and clinical challenges. 61
25176983 2014
9
Gastrointestinal lymphomas: Morphology, immunophenotype and molecular features. 61
22943012 2012
10
NK-cell enteropathy: a benign NK-cell lymphoproliferative disease mimicking intestinal lymphoma: clinicopathologic features and follow-up in a unique case series. 61
20966166 2011

Variations for Nk-Cell Enteropathy

ClinVar genetic disease variations for Nk-Cell Enteropathy:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 JAK3 NM_000215.3(JAK3):c.1688_1696del (p.Lys563_Cys565del)deletion Pathogenic 638620 19:17948746-17948754 19:17837937-17837945
2 ERBB4 NM_005235.3(ERBB4):c.785G>A (p.Cys262Tyr)SNV Likely pathogenic 638628 2:212587216-212587216 2:211722491-211722491
3 CUL3 NM_003590.5(CUL3):c.1499G>A (p.Gly500Asp)SNV Likely pathogenic 638623 2:225365191-225365191 2:224500474-224500474
4 AXL NM_021913.5(AXL):c.2161C>G (p.Leu721Val)SNV Likely pathogenic 638632 19:41762481-41762481 19:41256576-41256576
5 PIK3CB NM_006219.3(PIK3CB):c.2961G>T (p.Glu987Asp)SNV Likely pathogenic 638630 3:138375098-138375098 3:138656256-138656256
6 SETD5 NM_001080517.3(SETD5):c.2837C>T (p.Pro946Leu)SNV Likely pathogenic 638631 3:9512255-9512255 3:9470571-9470571
7 RUNX1T1 NM_175635.3(RUNX1T1):c.127A>C (p.Thr43Pro)SNV Likely pathogenic 638625 8:93027037-93027037 8:92014809-92014809
8 IGF1R NM_000875.5(IGF1R):c.3464G>A (p.Gly1155Asp)SNV Likely pathogenic 638629 15:99486158-99486158 15:98942929-98942929
9 AURKB NM_004217.4(AURKB):c.847C>T (p.Arg283Cys)SNV Likely pathogenic 638622 17:8108548-8108548 17:8205230-8205230
10 PTPRS NM_002850.4(PTPRS):c.4756G>A (p.Val1586Met)SNV Likely pathogenic 638621 19:5212361-5212361 19:5212350-5212350
11 SMARCB1 NM_003073.5(SMARCB1):c.1129C>G (p.Arg377Gly)SNV Likely pathogenic 638627 22:24176338-24176338 22:23834151-23834151
12 CHEK2 NM_007194.4(CHEK2):c.1421G>T (p.Arg474Leu)SNV Likely pathogenic 638624 22:29090060-29090060 22:28694072-28694072
13 CIC NM_001304815.1(CIC):c.7506dup (p.Pro2503fs)duplication Conflicting interpretations of pathogenicity 638626 19:42799294-42799295 19:42295142-42295143

Expression for Nk-Cell Enteropathy

Search GEO for disease gene expression data for Nk-Cell Enteropathy.

Pathways for Nk-Cell Enteropathy

Pathways related to Nk-Cell Enteropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 PIK3CB JAK3 IGF1R ERBB4
2 12.39 RUNX1T1 PIK3CB JAK3 IGF1R
3 11.89 PIK3CB IGF1R ERBB4
4
Show member pathways
11.81 PIK3CB IGF1R ERBB4 AXL
5 11.6 IGF1R ERBB4 AXL
6 11.49 PIK3CB JAK3 IGF1R
7
Show member pathways
11.35 PIK3CB IGF1R ERBB4 CHEK2
8 10.78 PIK3CB JAK3

GO Terms for Nk-Cell Enteropathy

Cellular components related to Nk-Cell Enteropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.35 SMARCB1 PIK3CB IGF1R CIC AXL
2 receptor complex GO:0043235 9.33 IGF1R ERBB4 AXL
3 nucleoplasm GO:0005654 9.28 SMARCB1 SETD5 RUNX1T1 PIK3CB ERBB4 CUL3

Biological processes related to Nk-Cell Enteropathy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.73 PIK3CB ERBB4 CUL3 AXL
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.67 PIK3CB IGF1R ERBB4
3 positive regulation of protein kinase B signaling GO:0051897 9.67 PIK3CB IGF1R ERBB4 AXL
4 positive regulation of kinase activity GO:0033674 9.63 IGF1R ERBB4 AXL
5 protein autophosphorylation GO:0046777 9.62 IGF1R ERBB4 CHEK2 AURKB
6 peptidyl-tyrosine phosphorylation GO:0018108 9.56 JAK3 IGF1R ERBB4 AXL
7 enzyme linked receptor protein signaling pathway GO:0007167 9.48 JAK3 AXL
8 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.46 PIK3CB IGF1R ERBB4 AXL
9 protein phosphorylation GO:0006468 9.43 JAK3 IGF1R ERBB4 CHEK2 AXL AURKB
10 embryonic cleavage GO:0040016 9.4 PIK3CB CUL3
11 phosphorylation GO:0016310 9.17 PIK3CB JAK3 IGF1R ERBB4 CHEK2 AXL

Molecular functions related to Nk-Cell Enteropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.25 SMARCB1 SETD5 RUNX1T1 PTPRS PIK3CB JAK3
2 nucleotide binding GO:0000166 9.95 PIK3CB JAK3 IGF1R ERBB4 CHEK2 AXL
3 ATP binding GO:0005524 9.91 PIK3CB JAK3 IGF1R ERBB4 CHEK2 AXL
4 transferase activity GO:0016740 9.86 SETD5 PIK3CB JAK3 IGF1R ERBB4 CHEK2
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.5 IGF1R ERBB4 AXL
6 phosphatidylinositol 3-kinase binding GO:0043548 9.48 IGF1R AXL
7 insulin receptor substrate binding GO:0043560 9.46 PIK3CB IGF1R
8 protein tyrosine kinase activity GO:0004713 9.46 JAK3 IGF1R ERBB4 AXL
9 protein kinase activity GO:0004672 9.43 JAK3 IGF1R ERBB4 CHEK2 AXL AURKB
10 kinase activity GO:0016301 9.17 PIK3CB JAK3 IGF1R ERBB4 CHEK2 AXL

Sources for Nk-Cell Enteropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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