IBD30
MCID: INF193
MIFTS: 22

Inflammatory Bowel Disease 30 (IBD30)

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

Aliases & Classifications for Inflammatory Bowel Disease 30

MalaCards integrated aliases for Inflammatory Bowel Disease 30:

Name: Inflammatory Bowel Disease 30 57 12
Inflammatory Bowel Disease 30 12 6
Ibd30 57 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on 1 family with 3 affected individuals (last curated october 2020)


HPO:

31
inflammatory bowel disease 30:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112154
OMIM® 57 619079
OMIM Phenotypic Series 57 PS266600

Summaries for Inflammatory Bowel Disease 30

OMIM® : 57 Inflammatory bowel disease-30 (IBD30) is characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease (Mao et al., 2018). For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600). (619079) (Updated 05-Mar-2021)

MalaCards based summary : Inflammatory Bowel Disease 30, also known as inflammatory bowel disease 30, is related to inflammatory bowel disease and crohn's disease. An important gene associated with Inflammatory Bowel Disease 30 is CARD8 (Caspase Recruitment Domain Family Member 8). Affiliated tissues include colon, and related phenotypes are vomiting and abdominal pain

Disease Ontology : 12 An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has material basis in heterozygous mutation in CARD8 on chromosome 19q13.33.

Related Diseases for Inflammatory Bowel Disease 30

Symptoms & Phenotypes for Inflammatory Bowel Disease 30

Human phenotypes related to Inflammatory Bowel Disease 30:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 vomiting 31 very rare (1%) HP:0002013
2 abdominal pain 31 very rare (1%) HP:0002027
3 chronic diarrhea 31 very rare (1%) HP:0002028
4 protein-losing enteropathy 31 very rare (1%) HP:0002243
5 bloody diarrhea 31 very rare (1%) HP:0025085
6 gastritis 31 HP:0005263
7 esophagitis 31 HP:0100633
8 ileitis 31 HP:0032564
9 duodenitis 31 HP:0033117
10 pancolitis 31 HP:0033256

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Gastrointestinal:
vomiting
abdominal pain
gastritis
esophagitis
protein-losing enteropathy
more

Clinical features from OMIM®:

619079 (Updated 05-Mar-2021)

Drugs & Therapeutics for Inflammatory Bowel Disease 30

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 30

Genetic Tests for Inflammatory Bowel Disease 30

Anatomical Context for Inflammatory Bowel Disease 30

MalaCards organs/tissues related to Inflammatory Bowel Disease 30:

40
Colon

Publications for Inflammatory Bowel Disease 30

Articles related to Inflammatory Bowel Disease 30:

# Title Authors PMID Year
1
Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease. 57 6
29408806 2018
2
Evaluation of activated neutrophils in the blood of horses with colic. 61
14620771 2003
3
Pulmonary complications in patients with inflammatory bowel disease. 61
10430329 1999
4
Antibody responses to gut bacteria in ankylosing spondylitis, rheumatoid arthritis, Crohn's disease and ulcerative colitis. 61
9194209 1997
5
Management of inflammatory bowel disease: 30 years of observation. 61
2257675 1990
6
Home parenteral nutrition in adults: a multicentre survey in Europe. 61
16837259 1989
7
Spontaneous suppressor cell function in inflammatory bowel disease. 61
6456877 1981

Variations for Inflammatory Bowel Disease 30

ClinVar genetic disease variations for Inflammatory Bowel Disease 30:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CARD8 NM_001184900.3(CARD8):c.130G>A (p.Val44Ile) SNV Pathogenic 252559 rs879255364 19:48741719-48741719 19:48238462-48238462

Expression for Inflammatory Bowel Disease 30

Search GEO for disease gene expression data for Inflammatory Bowel Disease 30.

Pathways for Inflammatory Bowel Disease 30

GO Terms for Inflammatory Bowel Disease 30

Sources for Inflammatory Bowel Disease 30

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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