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MCID: NKC001
MIFTS: 22

Nk-Cell Enteropathy

Categories: Gastrointestinal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Nk-Cell Enteropathy

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MalaCards integrated aliases for Nk-Cell Enteropathy:

Name: Nk-Cell Enteropathy 58

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:

MalaCards categories:
Global: Rare diseases
Anatomical: Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gastroenterological diseases


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Summaries for Nk-Cell Enteropathy

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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). Affiliated tissues include nk cells, t cells and colon, and related phenotypes are edema and lymphoproliferative disorder

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Related Diseases for Nk-Cell Enteropathy

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Diseases related to Nk-Cell Enteropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lymphoma 10.0
2 crohn's colitis 10.0
3 crohn's disease 10.0

Sources

Symptoms & Phenotypes for Nk-Cell Enteropathy

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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 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
6 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
7 hematochezia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002573
8 colonic diverticula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002253
9 gastric ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0002592
10 intestinal polyp 58 31 occasional (7.5%) Occasional (29-5%) HP:0005266
11 duodenal ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0002588
12 stercoral ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0012425
13 diarrhea 58 Occasional (29-5%)
14 abnormality of the gastric mucosa 58 Occasional (29-5%)
15 increase in t cell count 58 Very frequent (99-80%)
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Drugs & Therapeutics for Nk-Cell Enteropathy

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

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Genetic Tests for Nk-Cell Enteropathy

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Anatomical Context for Nk-Cell Enteropathy

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MalaCards organs/tissues related to Nk-Cell Enteropathy:

40
Nk Cells, T Cells, Colon
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Publications for Nk-Cell Enteropathy

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Articles related to Nk-Cell Enteropathy:

# Title Authors PMID Year
1
T- and NK-cell lymphoproliferative disorders of the gastrointestinal tract: review and update. 61
31727264 2020
2
Update on lymphoproliferative disorders of the gastrointestinal tract: disease spectrum from indolent lymphoproliferations to aggressive lymphomas. 61
31773249 2019
3
An Enteropathy-like Indolent NK-Cell Proliferation Presenting in the Female Genital Tract. 61
31609783 2019
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
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Variations for Nk-Cell Enteropathy

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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 AXL NM_021913.5(AXL):c.2161C>G (p.Leu721Val)SNV Likely pathogenic 638632 19:41762481-41762481 19:41256576-41256576
3 PTPRS NM_002850.4(PTPRS):c.4756G>A (p.Val1586Met)SNV Likely pathogenic 638621 19:5212361-5212361 19:5212350-5212350
4 SMARCB1 NM_003073.5(SMARCB1):c.1129C>G (p.Arg377Gly)SNV Likely pathogenic 638627 22:24176338-24176338 22:23834151-23834151
5 CHEK2 NM_007194.4(CHEK2):c.1421G>T (p.Arg474Leu)SNV Likely pathogenic 638624 22:29090060-29090060 22:28694072-28694072
6 PIK3CB NM_001256045.1(PIK3CB):c.1497G>T (p.Glu499Asp)SNV Likely pathogenic 638630 3:138375098-138375098 3:138656256-138656256
7 SETD5 NM_001292043.2(SETD5):c.2543C>T (p.Pro848Leu)SNV Likely pathogenic 638631 3:9512255-9512255 3:9470571-9470571
8 ERBB4 NM_005235.3(ERBB4):c.785G>A (p.Cys262Tyr)SNV Likely pathogenic 638628 2:212587216-212587216 2:211722491-211722491
9 CUL3 NM_003590.5(CUL3):c.1499G>A (p.Gly500Asp)SNV Likely pathogenic 638623 2:225365191-225365191 2:224500474-224500474
10 RUNX1T1 NM_175635.3(RUNX1T1):c.127A>C (p.Thr43Pro)SNV Likely pathogenic 638625 8:93027037-93027037 8:92014809-92014809
11 IGF1R NM_000875.5(IGF1R):c.3464G>A (p.Gly1155Asp)SNV Likely pathogenic 638629 15:99486158-99486158 15:98942929-98942929
12 AURKB NM_004217.4(AURKB):c.847C>T (p.Arg283Cys)SNV Likely pathogenic 638622 17:8108548-8108548 17:8205230-8205230
13 CIC NM_015125.4(CIC):c.4779dup (p.Pro1594fs)duplication Conflicting interpretations of pathogenicity 638626 19:42799294-42799295 19:42295142-42295143
Sources

Expression for Nk-Cell Enteropathy

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

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GO Terms for Nk-Cell Enteropathy

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Sources for Nk-Cell Enteropathy

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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