Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

MalaCards integrated aliases for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:

Name: Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy ⁵⁸ ⁷⁶ ⁶

Ibdimde ⁵⁸ ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
early death may occur
three patients from 2 unrelated families have been reported (last curated december 2018)

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 618213

MeSH ⁴⁵ D001927 D003424 D007153

MedGen ⁴³ CN257492

SNOMED-CT via HPO ⁷⁰ 128613002 135810007 204043002 more

Sources

Summaries for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

UniProtKB/Swiss-Prot : ⁷⁶ Inflammatory bowel disease, immunodeficiency, and encephalopathy: An autosomal recessive disorder characterized by severe infantile inflammatory bowel disease manifesting as bloody diarrhea and failure to thrive, global developmental delay, epilepsy, brain atrophy and encephalopathy. Affected individuals suffer from recurrent infections associated with impaired T-cell response to stimulation and decreased T-cell subsets, including regulatory and helper T cells.

MalaCards based summary : Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy, is also known as ibdimde. An important gene associated with Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy is TGFB1 (Transforming Growth Factor Beta 1). Affiliated tissues include t cells and brain, and related phenotypes are seizures and global developmental delay

Description from OMIM: 618213

Sources

Related Diseases for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Sources

Symptoms & Phenotypes for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Human phenotypes related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:

³³ (show all 9)

#	Description	HPO Source Accession
1	seizures ³³	HP:0001250
2	global developmental delay ³³	HP:0001263
3	hypsarrhythmia ³³	HP:0002521
4	recurrent infections ³³	HP:0002719
5	encephalopathy ³³	HP:0001298
6	hypoplasia of the corpus callosum ³³	HP:0002079
7	cerebral atrophy ³³	HP:0002059
8	colitis ³³	HP:0002583
9	delayed myelination ³³	HP:0012448

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
seizures
global developmental delay
hypsarrhythmia
encephalopathy
cerebral atrophy
more

Respiratory:
recurrent respiratory infections

Abdomen Gastrointestinal:
colitis
inflammatory bowel disease
crypt abscesses
eosinophilic esophagitis
blood diarrhea
more

Skin Nails Hair Skin:
dermatitis

Growth Other:
failure to thrive

Immunology:
recurrent infections
impaired t-cell response to stimulation
decreased t reg and t helper cells

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

618213

Sources

Drugs & Therapeutics for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Sources

Genetic Tests for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Sources

Anatomical Context for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

MalaCards organs/tissues related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:

⁴²

T Cells, Brain

Sources

Publications for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Articles related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:

#	Title	Authors	Year
1	Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. ( 29483653 )	Kotlarz D...Klein C	2018

Sources

Genes for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Genes related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	1228.19	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ GeneCards inferred via : Disorders Variants (show sections)	29483653

Sources

Variations for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

UniProtKB/Swiss-Prot genetic disease variations for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:

⁷⁶

#	Symbol	AA change	Variation ID
1	TGFB1	p.Arg45Cys	VAR_081584
2	TGFB1	p.Arg110Cys	VAR_081585
3	TGFB1	p.Cys387Arg	VAR_081586

ClinVar genetic disease variations for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TGFB1	NM_000660.6(TGFB1): c.133C> T (p.Arg45Cys)	single nucleotide variant	Pathogenic	rs1555755308	GRCh37	Chromosome 19, 41858817: 41858817
2	TGFB1	NM_000660.6(TGFB1): c.133C> T (p.Arg45Cys)	single nucleotide variant	Pathogenic	rs1555755308	GRCh38	Chromosome 19, 41352912: 41352912
3	TGFB1	NM_000660.6(TGFB1): c.328C> T (p.Arg110Cys)	single nucleotide variant	Pathogenic	rs1555755242	GRCh38	Chromosome 19, 41352717: 41352717
4	TGFB1	NM_000660.6(TGFB1): c.328C> T (p.Arg110Cys)	single nucleotide variant	Pathogenic	rs1555755242	GRCh37	Chromosome 19, 41858622: 41858622
5	TGFB1	NM_000660.6(TGFB1): c.1159T> C (p.Cys387Arg)	single nucleotide variant	Pathogenic	rs1336387628	GRCh37	Chromosome 19, 41836971: 41836971
6	TGFB1	NM_000660.6(TGFB1): c.1159T> C (p.Cys387Arg)	single nucleotide variant	Pathogenic	rs1336387628	GRCh38	Chromosome 19, 41331066: 41331066

Sources

Expression for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Search GEO for disease gene expression data for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy.

Sources

Pathways for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Sources

GO Terms for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Sources

Sources for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy (IBDIMDE)

Aliases & Classifications for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

MalaCards integrated aliases for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Related Diseases for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Symptoms & Phenotypes for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Human phenotypes related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Genetic Tests for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Anatomical Context for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

MalaCards organs/tissues related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:

Publications for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Articles related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:

Genes for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Genes related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy (1 elite genes):

Variations for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

UniProtKB/Swiss-Prot genetic disease variations for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:

ClinVar genetic disease variations for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:

Expression for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Pathways for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

GO Terms for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Sources for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy