MCID: INF175
MIFTS: 10

Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome

Categories: Blood diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections...

MalaCards integrated aliases for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome:

Name: Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome 58
Nfat5 Haploinsufficiency 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare immunological diseases


External Ids:

Orphanet 58 ORPHA529980

Summaries for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections...

MalaCards based summary : Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome, also known as nfat5 haploinsufficiency, is related to immune deficiency disease and alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity. An important gene associated with Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome is NFAT5 (Nuclear Factor Of Activated T Cells 5). Affiliated tissues include liver and bone marrow.

Related Diseases for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections...

Diseases related to Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 10.0
2 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
3 fatty liver disease, nonalcoholic 1 10.0
4 non-alcoholic fatty liver disease 10.0
5 hyperglycemia 10.0

Graphical network of the top 20 diseases related to Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome:



Diseases related to Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome

Symptoms & Phenotypes for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections...

Drugs & Therapeutics for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections...

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome

Genetic Tests for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections...

Anatomical Context for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections...

MalaCards organs/tissues related to Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome:

40
Liver, Bone Marrow

Publications for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections...

Articles related to Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome:

# Title Authors PMID Year
1
TonEBP/NFAT5 haploinsufficiency attenuates hippocampal inflammation in high-fat diet/streptozotocin-induced diabetic mice. 61
28798347 2017
2
Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency. 61
25667416 2015
3
NFAT5 expression in bone marrow-derived cells enhances atherosclerosis and drives macrophage migration. 61
22934063 2012

Variations for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections...

Expression for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections...

Search GEO for disease gene expression data for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome.

Pathways for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections...

GO Terms for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections...

Sources for Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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