MCID: RRN022
MIFTS: 12

Rare Inflammatory Bowel Disease

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Rare Inflammatory Bowel Disease

MalaCards integrated aliases for Rare Inflammatory Bowel Disease:

Name: Rare Inflammatory Bowel Disease 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

UMLS via Orphanet 72 C0021390
Orphanet 58 ORPHA104012

Summaries for Rare Inflammatory Bowel Disease

MalaCards based summary : Rare Inflammatory Bowel Disease is related to cutaneous photosensitivity and colitis, lethal and inflammatory bowel disease. Affiliated tissues include liver.

Related Diseases for Rare Inflammatory Bowel Disease

Symptoms & Phenotypes for Rare Inflammatory Bowel Disease

Drugs & Therapeutics for Rare Inflammatory Bowel Disease

Search Clinical Trials , NIH Clinical Center for Rare Inflammatory Bowel Disease

Genetic Tests for Rare Inflammatory Bowel Disease

Anatomical Context for Rare Inflammatory Bowel Disease

MalaCards organs/tissues related to Rare Inflammatory Bowel Disease:

40
Liver

Publications for Rare Inflammatory Bowel Disease

Articles related to Rare Inflammatory Bowel Disease:

# Title Authors PMID Year
1
Paneth cells as a site of origin for intestinal inflammation. 61
24089213 2013
2
[Cecal solitary ulcer as a presentation of Crohn's disease]. 61
21544160 2011
3
Symptoms and signs in individuals with serology positive for celiac disease but normal mucosa. 61
19624815 2009
4
Phlegmonous enteritis in alcoholic fatty liver. 61
1928052 1991

Variations for Rare Inflammatory Bowel Disease

ClinVar genetic disease variations for Rare Inflammatory Bowel Disease:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IL10 NM_000572.3(IL10):c.94C>A (p.His32Asn)SNV Uncertain significance 526787 rs376787667 1:206945687-206945687 1:206772342-206772342
2 IL10 NM_000572.3(IL10):c.58C>T (p.Pro20Ser)SNV Uncertain significance 526788 rs141219090 1:206945723-206945723 1:206772378-206772378
3 IL10 NM_000572.3(IL10):c.514A>G (p.Met172Val)SNV Uncertain significance 662170 1:206942004-206942004 1:206768659-206768659
4 IL10 NM_000572.3(IL10):c.134G>A (p.Arg45Gln)SNV Uncertain significance 840379 1:206945647-206945647 1:206772302-206772302
5 IL10RB NM_000628.5(IL10RB):c.*365C>TSNV Uncertain significance 339702 rs886057005 21:34669027-34669027 21:33296722-33296722
6 IL10RB NM_000628.5(IL10RB):c.*616deldeletion Uncertain significance 339706 rs5843596 21:34669259-34669259 21:33296954-33296954
7 IL10RB NM_000628.5(IL10RB):c.*593_*594TC[1]short repeat Uncertain significance 339705 rs886057007 21:34669255-34669256 21:33296950-33296951
8 IL10RA NM_001558.4(IL10RA):c.*356dupduplication Likely benign 302563 rs146951811 11:117870710-117870711 11:117999995-117999996
9 IL10 NM_000572.3(IL10):c.345C>T (p.Asn115=)SNV Likely benign 745482 1:206944285-206944285 1:206770940-206770940
10 IL10 NM_000572.3(IL10):c.336G>C (p.Leu112=)SNV Likely benign 757750 1:206944294-206944294 1:206770949-206770949
11 IL10 NM_000572.3(IL10):c.228T>C (p.Gly76=)SNV Likely benign 756187 1:206944402-206944402 1:206771057-206771057
12 IL10 NM_000572.3(IL10):c.56G>A (p.Ser19Asn)SNV Likely benign 729261 1:206945725-206945725 1:206772380-206772380
13 IL10 NM_000572.3(IL10):c.165+8T>CSNV Benign 729486 1:206945608-206945608 1:206772263-206772263
14 IL10RB NM_000628.5(IL10RB):c.*615_*616deldeletion Benign 339707 rs5843596 21:34669259-34669260 21:33296954-33296955

Expression for Rare Inflammatory Bowel Disease

Search GEO for disease gene expression data for Rare Inflammatory Bowel Disease.

Pathways for Rare Inflammatory Bowel Disease

GO Terms for Rare Inflammatory Bowel Disease

Sources for Rare Inflammatory Bowel Disease

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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