Inflammatory Bowel Disease 30 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Gastrointestinal diseases Bone diseases Blood diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0112154

OMIM® ⁵⁷ 619079

OMIM Phenotypic Series ⁵⁷ PS266600

SNOMED-CT via HPO ⁶⁸ 16761005 21522001 22542007 more

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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.

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Related Diseases for Inflammatory Bowel Disease 30

Diseases in the Inflammatory Bowel Disease family:

Inflammatory Bowel Disease 11	Inflammatory Bowel Disease 1
Inflammatory Bowel Disease 2	Inflammatory Bowel Disease 3
Inflammatory Bowel Disease 7	Inflammatory Bowel Disease 5
Inflammatory Bowel Disease 8	Inflammatory Bowel Disease 6
Inflammatory Bowel Disease 4	Inflammatory Bowel Disease 9
Inflammatory Bowel Disease 10	Inflammatory Bowel Disease 12
Inflammatory Bowel Disease 13	Inflammatory Bowel Disease 14
Inflammatory Bowel Disease 15	Inflammatory Bowel Disease 16
Inflammatory Bowel Disease 17	Inflammatory Bowel Disease 18
Inflammatory Bowel Disease 19	Inflammatory Bowel Disease 20
Inflammatory Bowel Disease 21	Inflammatory Bowel Disease 22
Inflammatory Bowel Disease 23	Inflammatory Bowel Disease 24
Inflammatory Bowel Disease 25, Autosomal Recessive	Inflammatory Bowel Disease 26
Inflammatory Bowel Disease 27	Inflammatory Bowel Disease 28, Autosomal Recessive
Inflammatory Bowel Disease 29	Inflammatory Bowel Disease 30
Inflammatory Bowel Disease 28	Inflammatory Bowel Disease 25
Rare Inflammatory Bowel Disease

Diseases related to Inflammatory Bowel Disease 30 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	inflammatory bowel disease	10.0
2	crohn's disease	10.0

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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)

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Drugs & Therapeutics for Inflammatory Bowel Disease 30

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

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Genetic Tests for Inflammatory Bowel Disease 30

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Anatomical Context for Inflammatory Bowel Disease 30

MalaCards organs/tissues related to Inflammatory Bowel Disease 30:

⁴⁰

Colon

Sources

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	Mao L...Strober W	29408806	2018
2	Evaluation of activated neutrophils in the blood of horses with colic. ⁶¹	Weiss DJ...Evanson OA	14620771	2003
3	Pulmonary complications in patients with inflammatory bowel disease. ⁶¹	Kuzela L...Kristufek P	10430329	1999
4	Antibody responses to gut bacteria in ankylosing spondylitis, rheumatoid arthritis, Crohn's disease and ulcerative colitis. ⁶¹	Tiwana H...Ebringer A	9194209	1997
5	Management of inflammatory bowel disease: 30 years of observation. ⁶¹	Michener WM...Farmer RG	2257675	1990
6	Home parenteral nutrition in adults: a multicentre survey in Europe. ⁶¹	Messing B...Irving M	16837259	1989
7	Spontaneous suppressor cell function in inflammatory bowel disease. ⁶¹	Victorino RM...Hodgson HJ	6456877	1981

Sources

Genes for Inflammatory Bowel Disease 30

Genes related to Inflammatory Bowel Disease 30 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CARD8	Caspase Recruitment Domain Family Member 8	Protein Coding	957.55	Molecular basis known ⁵⁷ Pathogenic ⁶ Unconfirmed association ⁵⁷ GeneCards inferred via : Variants (show sections)	29408806

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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

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Expression for Inflammatory Bowel Disease 30

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

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Pathways for Inflammatory Bowel Disease 30

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GO Terms for Inflammatory Bowel Disease 30

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Sources for Inflammatory Bowel Disease 30

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Inflammatory Bowel Disease 30 (IBD30)

Aliases & Classifications for Inflammatory Bowel Disease 30

MalaCards integrated aliases for Inflammatory Bowel Disease 30:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Inflammatory Bowel Disease 30

Related Diseases for Inflammatory Bowel Disease 30

Diseases in the Inflammatory Bowel Disease family:

Diseases related to Inflammatory Bowel Disease 30 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Inflammatory Bowel Disease 30

Human phenotypes related to Inflammatory Bowel Disease 30:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Publications for Inflammatory Bowel Disease 30

Articles related to Inflammatory Bowel Disease 30:

Genes for Inflammatory Bowel Disease 30

Genes related to Inflammatory Bowel Disease 30 (1 elite genes):

Variations for Inflammatory Bowel Disease 30

ClinVar genetic disease variations for Inflammatory Bowel Disease 30:

Expression for Inflammatory Bowel Disease 30

Pathways for Inflammatory Bowel Disease 30

GO Terms for Inflammatory Bowel Disease 30

Sources for Inflammatory Bowel Disease 30