IBD30
MCID: INF193
MIFTS: 22
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Inflammatory Bowel Disease 30 (IBD30)
Categories:
Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Inflammatory Bowel Disease 30:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
based on 1 family with 3 affected individuals (last curated october 2020) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Gastrointestinal diseases Bone diseases Blood diseases Immune diseases |
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. |
Human phenotypes related to Inflammatory Bowel Disease 30:31 (show all 10)
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MalaCards organs/tissues related to Inflammatory Bowel Disease 30:40
Colon
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Articles related to Inflammatory Bowel Disease 30:
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ClinVar genetic disease variations for Inflammatory Bowel Disease 30:6
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Search
GEO
for disease gene expression data for Inflammatory Bowel Disease 30.
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