MCID: NKC001
MIFTS: 37

Nk-Cell Enteropathy

Categories: Gastrointestinal diseases, Rare diseases
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Aliases & Classifications for Nk-Cell Enteropathy

MalaCards integrated aliases for Nk-Cell Enteropathy:

Name: Nk-Cell Enteropathy 58 5

Characteristics:


Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Adult 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


Summaries for Nk-Cell Enteropathy

Orphanet: 58 Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see these terms).

MalaCards based summary: Nk-Cell Enteropathy is related to burkitt lymphoma and inflammatory bowel disease 1. An important gene associated with Nk-Cell Enteropathy is JAK3 (Janus Kinase 3), and among its related pathways/superpathways are Signal Transduction and NFAT and Cardiac Hypertrophy. Affiliated tissues include lymph node, 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 30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 edema 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000969
2 lymphoproliferative disorder 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005523
3 increased t cell count 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100828
4 abdominal pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002027
5 constipation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002019
6 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002020
7 colonic diverticula 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002253
8 hematochezia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002573
9 gastric ulcer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002592
10 duodenal ulcer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002588
11 intestinal polyp 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005266
12 stercoral ulcer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012425
13 abnormality of the gastric mucosa 58 Occasional (29-5%)
14 diarrhea 58 Occasional (29-5%)

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

25 (show all 48)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 11.02 AURKB
2 Decreased viability GR00221-A-1 11.02 AXL IGF1R AURKB PIK3CB SMARCB1
3 Decreased viability GR00221-A-2 11.02 AXL IGF1R AURKB CHEK2 SMARCB1
4 Decreased viability GR00221-A-3 11.02 IGF1R CHEK2 PIK3CB SMARCB1 JAK3
5 Decreased viability GR00221-A-4 11.02 AXL AURKB CHEK2 PIK3CB
6 Decreased viability GR00249-S 11.02 AURKB SMARCB1
7 Decreased viability GR00301-A 11.02 AXL ERBB4 IGF1R
8 Decreased viability GR00342-S-1 11.02 ERBB4
9 Decreased viability GR00342-S-2 11.02 IGF1R CHEK2
10 Decreased viability GR00381-A-1 11.02 PIK3CB SMARCB1
11 Decreased viability GR00402-S-2 11.02 IGF1R PIK3CB JAK3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-1 10.4 CHEK2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-10 10.4 AURKB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.4 JAK3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-112 10.4 CHEK2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.4 CHEK2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.4 CHEK2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.4 CHEK2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-131 10.4 AURKB
20 Increased shRNA abundance (Z-score > 2) GR00366-A-134 10.4 PIK3CB
21 Increased shRNA abundance (Z-score > 2) GR00366-A-142 10.4 CHEK2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.4 JAK3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.4 IGF1R
24 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.4 AURKB
25 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.4 SMARCB1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.4 SMARCB1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.4 AURKB
28 Increased shRNA abundance (Z-score > 2) GR00366-A-20 10.4 JAK3
29 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.4 AURKB
30 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.4 PIK3CB
31 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.4 CHEK2 IGF1R JAK3 PIK3CB
32 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.4 AURKB
33 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.4 AXL
34 Increased shRNA abundance (Z-score > 2) GR00366-A-75 10.4 SMARCB1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.4 CHEK2 IGF1R JAK3 PIK3CB AURKB AXL
36 Increased shRNA abundance (Z-score > 2) GR00366-A-95 10.4 AURKB
37 Increased shRNA abundance (Z-score > 2) GR00366-A-96 10.4 JAK3
38 Decreased substrate adherent cell growth GR00193-A-1 9.91 AXL IGF1R
39 Decreased substrate adherent cell growth GR00193-A-2 9.91 AURKB
40 Decreased substrate adherent cell growth GR00193-A-3 9.91 AXL CHEK2
41 Decreased substrate adherent cell growth GR00193-A-4 9.91 AURKB AXL CHEK2 IGF1R
42 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.67 AURKB AXL CUL3 PIK3CB
43 Increased cell viability after pRB stimulation GR00230-A-1 9.33 CHEK2 ERBB4 IGF1R
44 Increased Nanog expression GR00371-A-1 9.32 CIC SETD5
45 Increased Nanog expression GR00371-A-2 9.32 CIC SETD5
46 Increased Nanog expression GR00371-A-3 9.32 AURKB CIC SETD5
47 Increased Nanog expression GR00371-A-4 9.32 SETD5
48 Increased Nanog expression GR00371-A-5 9.32 CIC SETD5

MGI Mouse Phenotypes related to Nk-Cell Enteropathy:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.24 AXL CHEK2 CIC CUL3 ERBB4 IGF1R
2 growth/size/body region MP:0005378 10.22 AURKB AXL CIC CUL3 IGF1R JAK3
3 homeostasis/metabolism MP:0005376 10.19 AURKB AXL CHEK2 CUL3 IGF1R PIK3CB
4 cellular MP:0005384 10.11 AURKB AXL CHEK2 CUL3 ERBB4 IGF1R
5 cardiovascular system MP:0005385 10.1 AURKB AXL CHEK2 CUL3 ERBB4 IGF1R
6 endocrine/exocrine gland MP:0005379 10.06 AXL CHEK2 ERBB4 IGF1R JAK3 PIK3CB
7 embryo MP:0005380 10.03 AURKB CUL3 ERBB4 IGF1R JAK3 PIK3CB
8 muscle MP:0005369 10 CUL3 ERBB4 IGF1R PTPRS SETD5 SMARCB1
9 liver/biliary system MP:0005370 9.99 AXL CUL3 IGF1R PIK3CB SETD5 SMARCB1
10 neoplasm MP:0002006 9.95 AURKB CHEK2 IGF1R PIK3CB SMARCB1
11 behavior/neurological MP:0005386 9.91 CIC CUL3 ERBB4 IGF1R JAK3 PTPRS
12 digestive/alimentary MP:0005381 9.88 IGF1R JAK3 PTPRS RUNX1T1 SETD5 SMARCB1
13 reproductive system MP:0005389 9.85 AURKB AXL CHEK2 CUL3 ERBB4 IGF1R
14 mortality/aging MP:0010768 9.77 AURKB AXL CHEK2 CIC CUL3 ERBB4
15 integument MP:0010771 9.28 AURKB AXL ERBB4 IGF1R PIK3CB 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

Organs/tissues related to Nk-Cell Enteropathy:

MalaCards : Lymph Node

Publications for Nk-Cell Enteropathy

Articles related to Nk-Cell Enteropathy:

(show all 18)
# Title Authors PMID Year
1
Indolent NK-Cell Lymphoproliferative Disorder of the Gastrointestinal Tract - a Report of two Cases of a new Provisional Entity on the World Health Organization Classification of Hematolymphoid Tumors. 62
35903908 2022
2
Lymphomatoid gastropathy/NK-cell enteropathy involving the stomach and intestine. 62
35474034 2022
3
Cellular Origins and Pathogenesis of Gastrointestinal NK- and T-Cell Lymphoproliferative Disorders. 62
35626087 2022
4
[Clinicopathological characteristics of natural killer cell enteropathy: report of two cases and review of literature]. 62
35152628 2022
5
Natural Killer-cell Enteropathy of the Stomach in an Elderly Woman: A Case Report. 62
34955512 2021
6
Diagnostic approach to T- and NK-cell lymphoproliferative disorders in the gastrointestinal tract. 62
34016481 2021
7
Lymph node involvement by enteropathy-like indolent NK-cell proliferation. 62
32696224 2021
8
Natural Killer Cell Enteropathy With Extraintestinal Involvement: Presenting as Symptomatic Anemia. 62
34549068 2021
9
Update on lymphoproliferative disorders of the gastrointestinal tract: disease spectrum from indolent lymphoproliferations to aggressive lymphomas. 62
31773249 2020
10
An Enteropathy-like Indolent NK-Cell Proliferation Presenting in the Female Genital Tract. 62
31609783 2020
11
T- and NK-cell lymphoproliferative disorders of the gastrointestinal tract: review and update. 62
31727264 2020
12
Recurrent somatic JAK3 mutations in NK-cell enteropathy. 62
31383643 2019
13
NK-cell enteropathy, a potential diagnostic pitfall of intestinal lymphoproliferative disease. 62
30819538 2019
14
NK-Cell Enteropathy and Similar Indolent Lymphoproliferative Disorders: A Case Series With Literature Review. 62
30212873 2019
15
NK cell enteropathy: a case report with 10 years of indolent clinical behaviour. 62
29474745 2018
16
Early lymphoid lesions: conceptual, diagnostic and clinical challenges. 62
25176983 2014
17
Gastrointestinal lymphomas: Morphology, immunophenotype and molecular features. 62
22943012 2012
18
NK-cell enteropathy: a benign NK-cell lymphoproliferative disease mimicking intestinal lymphoma: clinicopathologic features and follow-up in a unique case series. 62
20966166 2011

Variations for Nk-Cell Enteropathy

ClinVar genetic disease variations for Nk-Cell Enteropathy:

5 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 JAK3 NM_000215.4(JAK3):c.1688_1696del (p.Lys563_Cys565del) DEL Pathogenic
638620 rs1599873586 GRCh37: 19:17948746-17948754
GRCh38: 19:17837937-17837945
2 PTPRS NM_002850.4(PTPRS):c.4756G>A (p.Val1586Met) SNV Likely Pathogenic
638621 rs140472977 GRCh37: 19:5212361-5212361
GRCh38: 19:5212350-5212350
3 AURKB NM_004217.4(AURKB):c.847C>T (p.Arg283Cys) SNV Likely Pathogenic
638622 rs1597343914 GRCh37: 17:8108548-8108548
GRCh38: 17:8205230-8205230
4 CUL3 NM_003590.5(CUL3):c.1499G>A (p.Gly500Asp) SNV Likely Pathogenic
638623 rs1574631977 GRCh37: 2:225365191-225365191
GRCh38: 2:224500474-224500474
5 CHEK2 NM_007194.4(CHEK2):c.1421G>T (p.Arg474Leu) SNV Likely Pathogenic
638624 rs121908706 GRCh37: 22:29090060-29090060
GRCh38: 22:28694072-28694072
6 SMARCB1 NM_003073.5(SMARCB1):c.1129C>G (p.Arg377Gly) SNV Likely Pathogenic
638627 rs1601446826 GRCh37: 22:24176338-24176338
GRCh38: 22:23834151-23834151
7 ERBB4 NM_005235.3(ERBB4):c.785G>A (p.Cys262Tyr) SNV Likely Pathogenic
638628 rs1575051224 GRCh37: 2:212587216-212587216
GRCh38: 2:211722491-211722491
8 IGF1R NM_000875.5(IGF1R):c.3464G>A (p.Gly1155Asp) SNV Likely Pathogenic
638629 rs1596476061 GRCh37: 15:99486158-99486158
GRCh38: 15:98942929-98942929
9 PIK3CB NM_006219.3(PIK3CB):c.2961G>T (p.Glu987Asp) SNV Likely Pathogenic
638630 rs1577033077 GRCh37: 3:138375098-138375098
GRCh38: 3:138656256-138656256
10 SETD5 NM_001080517.3(SETD5):c.2837C>T (p.Pro946Leu) SNV Likely Pathogenic
638631 rs936256673 GRCh37: 3:9512255-9512255
GRCh38: 3:9470571-9470571
11 AXL NM_021913.5(AXL):c.2161C>G (p.Leu721Val) SNV Likely Pathogenic
638632 rs1599744167 GRCh37: 19:41762481-41762481
GRCh38: 19:41256576-41256576
12 RUNX1T1 NM_175635.3(RUNX1T1):c.127A>C (p.Thr43Pro) SNV Likely Pathogenic
638625 rs1587007112 GRCh37: 8:93027037-93027037
GRCh38: 8:92014809-92014809
13 CIC NM_001386298.1(CIC):c.7506dup (p.Pro2503fs) DUP Likely Pathogenic
638626 rs1422380205 GRCh37: 19:42799294-42799295
GRCh38: 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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1 12.97 PTPRS PIK3CB JAK3 IGF1R ERBB4 CUL3
2
Show member pathways
12.52 PIK3CB JAK3 IGF1R ERBB4
3
Show member pathways
12.29 PIK3CB JAK3 IGF1R ERBB4
4
Show member pathways
11.9 PIK3CB JAK3 IGF1R
5
Show member pathways
11.87 PIK3CB IGF1R ERBB4 CHEK2
6 11.82 PTPRS PIK3CB JAK3 IGF1R ERBB4 AXL
7 11.78 IGF1R ERBB4 AXL
8 11.72 PIK3CB IGF1R ERBB4
9 11.61 AXL IGF1R PIK3CB
10 11.3 PIK3CB IGF1R CUL3
11
Show member pathways
11.08 PIK3CB JAK3
12 11.05 CHEK2 AURKB

GO Terms for Nk-Cell Enteropathy

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 10.1 PIK3CB ERBB4 CUL3 AXL
2 positive regulation of protein kinase B signaling GO:0051897 9.99 PIK3CB IGF1R AXL
3 protein autophosphorylation GO:0046777 9.97 IGF1R ERBB4 CHEK2 AURKB
4 positive regulation of kinase activity GO:0033674 9.95 IGF1R ERBB4 AXL
5 peptidyl-tyrosine phosphorylation GO:0018108 9.87 AXL ERBB4 IGF1R JAK3
6 protein phosphorylation GO:0006468 9.81 JAK3 IGF1R ERBB4 CHEK2 AXL AURKB
7 embryonic cleavage GO:0040016 9.73 PIK3CB CUL3
8 positive regulation of cytokinesis GO:0032467 9.73 IGF1R CUL3 AURKB
9 multicellular organism development GO:0007275 9.63 AXL ERBB4 IGF1R
10 enzyme-linked receptor protein signaling pathway GO:0007167 9.58 JAK3 AXL
11 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.56 PIK3CB IGF1R ERBB4 AXL
12 phosphorylation GO:0016310 9.23 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 ATP binding GO:0005524 10.3 PIK3CB JAK3 IGF1R ERBB4 CHEK2 AXL
2 nucleotide binding GO:0000166 9.87 AURKB AXL CHEK2 ERBB4 IGF1R JAK3
3 protein tyrosine kinase activity GO:0004713 9.86 JAK3 IGF1R ERBB4 AXL
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.85 IGF1R ERBB4 AXL
5 phosphatidylinositol 3-kinase binding GO:0043548 9.73 IGF1R AXL
6 insulin receptor substrate binding GO:0043560 9.71 PIK3CB IGF1R
7 protein kinase activity GO:0004672 9.63 JAK3 IGF1R ERBB4 CHEK2 AXL AURKB
8 transferase activity GO:0016740 9.56 SETD5 PIK3CB JAK3 IGF1R ERBB4 CHEK2
9 kinase activity GO:0016301 9.23 PIK3CB JAK3 IGF1R ERBB4 CHEK2 AXL

Sources for Nk-Cell Enteropathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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