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MCID: NKC001
MIFTS: 19

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 59

Characteristics:

Orphanet epidemiological data:

59
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: 34
Orphanet: 59  
Rare gastroenterological diseases


External Ids:

ICD10 via Orphanet 34 K63.8
Orphanet 59 ORPHA263665
Sources

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:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000969
2 lymphoproliferative disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0005523
3 increased t cell count 32 hallmark (90%) HP:0100828
4 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
5 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
6 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
7 hematochezia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002573
8 colonic diverticula 59 32 occasional (7.5%) Occasional (29-5%) HP:0002253
9 gastric ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0002592
10 intestinal polyp 59 32 occasional (7.5%) Occasional (29-5%) HP:0005266
11 duodenal ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0002588
12 stercoral ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0012425
13 diarrhea 59 Occasional (29-5%)
14 abnormality of the gastric mucosa 59 Occasional (29-5%)
15 increase in t cell count 59 Very frequent (99-80%)
Sources

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:

41
Nk Cells, T Cells, Colon
Sources

Publications for Nk-Cell Enteropathy

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Articles related to Nk-Cell Enteropathy:

# Title Authors PMID Year
1
Recurrent somatic JAK3 mutations in NK-cell enteropathy. 38
31383643 2019
2
NK-cell enteropathy, a potential diagnostic pitfall of intestinal lymphoproliferative disease. 38
30819538 2019
3
NK-Cell Enteropathy and Similar Indolent Lymphoproliferative Disorders: A Case Series With Literature Review. 38
30212873 2019
4
NK cell enteropathy: a case report with 10 years of indolent clinical behaviour. 38
29474745 2018
5
Early lymphoid lesions: conceptual, diagnostic and clinical challenges. 38
25176983 2014
6
Gastrointestinal lymphomas: Morphology, immunophenotype and molecular features. 38
22943012 2012
7
NK-cell enteropathy: a benign NK-cell lymphoproliferative disease mimicking intestinal lymphoma: clinicopathologic features and follow-up in a unique case series. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 JAK3 NM_000215.3(JAK3): c.1688_1696del (p.Lys563_Cys565del) deletion Pathogenic 19:17948746-17948754 19:17837939-17837947
2 AXL NM_001699.6(AXL): c.2134C> G (p.Leu712Val) single nucleotide variant Likely pathogenic 19:41762481-41762481 19:41256576-41256576
3 CIC NM_015125.4(CIC): c.4779dup (p.Pro1594fs) duplication Likely pathogenic 19:42799294-42799295 19:42295143-42295143
4 PTPRS NM_002850.4(PTPRS): c.4756G> A (p.Val1586Met) single nucleotide variant Likely pathogenic 19:5212361-5212361 19:5212350-5212350
5 SMARCB1 NM_003073.5(SMARCB1): c.1129C> G (p.Arg377Gly) single nucleotide variant Likely pathogenic 22:24176338-24176338 22:23834151-23834151
6 CHEK2 NM_007194.4(CHEK2): c.1421G> T (p.Arg474Leu) single nucleotide variant Likely pathogenic 22:29090060-29090060 22:28694072-28694072
7 ERBB4 NM_005235.3(ERBB4): c.785G> A (p.Cys262Tyr) single nucleotide variant Likely pathogenic 2:212587216-212587216 2:211722491-211722491
8 CUL3 NM_003590.5(CUL3): c.1499G> A (p.Gly500Asp) single nucleotide variant Likely pathogenic 2:225365191-225365191 2:224500474-224500474
9 PIK3CB NM_001256045.1(PIK3CB): c.1497G> T (p.Glu499Asp) single nucleotide variant Likely pathogenic 3:138375098-138375098 3:138656256-138656256
10 SETD5 NM_001292043.2(SETD5): c.2543C> T (p.Pro848Leu) single nucleotide variant Likely pathogenic 3:9512255-9512255 3:9470571-9470571
11 RUNX1T1 NM_175635.3(RUNX1T1): c.127A> C (p.Thr43Pro) single nucleotide variant Likely pathogenic 8:93027037-93027037 8:92014809-92014809
12 IGF1R NM_000875.5(IGF1R): c.3464G> A (p.Gly1155Asp) single nucleotide variant Likely pathogenic 15:99486158-99486158 15:98942929-98942929
13 AURKB NM_004217.4(AURKB): c.847C> T (p.Arg283Cys) single nucleotide variant Likely pathogenic 17:8108548-8108548 17:8205230-8205230
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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