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

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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 ⁵⁷ ⁷³ ²⁹ ⁶ ¹⁷

Ibdimde ⁵⁷ ⁷³

Infantile Inflammatory Bowel Disease with Neurological Involvement ⁵⁸

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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)

HPO:

³¹

inflammatory bowel disease, immunodeficiency, and encephalopathy:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Rare gastroenterological diseases

Rare immunological diseases

External Ids:

OMIM® ⁵⁷ 618213

MeSH ⁴⁴ D001927 D003424 D007153

Orphanet ⁵⁸ ORPHA565788

MedGen ⁴¹ C4748708 CN257492

EFO ¹⁷ EFO_0010258

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Summaries for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

UniProtKB/Swiss-Prot : ⁷³ 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 related phenotypes are spasticity and recurrent respiratory infections

More information from OMIM: 618213

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Related Diseases for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

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

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

³¹ (showing 26, show less)

#	Description	HPO Frequency	HPO Source Accession
1	spasticity ³¹	very rare (1%)	HP:0001257
2	recurrent respiratory infections ³¹	very rare (1%)	HP:0002205
3	focal impaired awareness seizure ³¹	very rare (1%)	HP:0002384
4	cerebral atrophy ³¹	very rare (1%)	HP:0002059
5	leukocytosis ³¹	very rare (1%)	HP:0001974
6	hypochromic anemia ³¹	very rare (1%)	HP:0001931
7	hypsarrhythmia ³¹	very rare (1%)	HP:0002521
8	thrombocytosis ³¹	very rare (1%)	HP:0001894
9	increased circulating igg level ³¹	very rare (1%)	HP:0003237
10	perianal abscess ³¹	very rare (1%)	HP:0009789
11	bloody diarrhea ³¹	very rare (1%)	HP:0025085
12	severe varicella zoster infection ³¹	very rare (1%)	HP:0032170
13	increased circulating ige level ³¹	very rare (1%)	HP:0003212
14	anoperineal fistula ³¹	very rare (1%)	HP:0005218
15	myoclonic seizure ³¹	very rare (1%)	HP:0032794
16	eosinophilic infiltration of the esophagus ³¹	very rare (1%)	HP:0410151
17	pancolitis ³¹	very rare (1%)	HP:0033256
18	candida esophagitis ³¹	very rare (1%)	HP:0033351
19	failure to thrive ³¹		HP:0001508
20	global developmental delay ³¹		HP:0001263
21	hypoplasia of the corpus callosum ³¹		HP:0002079
22	encephalopathy ³¹		HP:0001298
23	generalized hypotonia ³¹		HP:0001290
24	decreased t cell activation ³¹		HP:0005419
25	delayed cns myelination ³¹		HP:0002188
26	defective t cell proliferation ³¹		HP:0030253

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Central Nervous System:
seizures
global developmental delay
encephalopathy
cerebral atrophy
hypsarrhythmia
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 (Updated 05-Mar-2021)

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

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

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Genetic Tests for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Genetic tests related to Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy:

#	Genetic test	Affiliating Genes
1	Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy ²⁹	TGFB1

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Anatomical Context for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

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

⁴⁰

T Cells

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Publications for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

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

(showing 1, show less)

#	Title	Authors	PMID	Year
1	Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. ⁶ ⁵⁷	Kotlarz D...Klein C	29483653	2018

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Genes for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

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

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	1293.18	Molecular basis known ⁵⁷ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	29483653

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Variations for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

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

⁶ (showing 3, show less)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TGFB1	NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg)	SNV	Likely pathogenic	488346	rs1336387628	19:41836971-41836971	19:41331066-41331066
2	TGFB1	NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys)	SNV	Likely pathogenic	488345	rs1555755242	19:41858622-41858622	19:41352717-41352717
3	TGFB1	NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys)	SNV	Likely pathogenic	487577	rs1555755308	19:41858817-41858817	19:41352912-41352912

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

⁷³ (showing 3, show less)

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

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Expression for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

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

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Pathways for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

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GO Terms for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

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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

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¹⁶ DrugBank

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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

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⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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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, 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®:

HPO:

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

Genetic tests related to 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

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

UniProtKB/Swiss-Prot 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