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 ⁵⁶ ⁷³ ²⁹ ⁶ ¹⁷

Ibdimde ⁵⁶ ⁷³

Infantile Inflammatory Bowel Disease with Neurological Involvement ⁵⁸

Characteristics:

OMIM:

⁵⁶

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 Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618213

MeSH ⁴³ 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, brain and skin, and related phenotypes are global developmental delay 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 (show all 13)

#	Description	HPO Source Accession
1	global developmental delay ³¹	HP:0001263
2	recurrent respiratory infections ³¹	HP:0002205
3	failure to thrive ³¹	HP:0001508
4	hypoplasia of the corpus callosum ³¹	HP:0002079
5	encephalopathy ³¹	HP:0001298
6	cerebral atrophy ³¹	HP:0002059
7	diarrhea ³¹	HP:0002014
8	generalized hypotonia ³¹	HP:0001290
9	hypsarrhythmia ³¹	HP:0002521
10	inflammatory abnormality of the skin ³¹	HP:0011123
11	colitis ³¹	HP:0002583
12	delayed myelination ³¹	HP:0012448
13	seizure ³¹	HP:0001250

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Growth Other:
failure to thrive

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

Skin Nails Hair Skin:
dermatitis

Respiratory:
recurrent respiratory infections

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

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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, Brain, Skin

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Publications for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

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

#	Title	Authors	PMID	Year
1	Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. ⁵⁶ ⁶	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):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	1268.22	Molecular basis known ⁵⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)

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Variations for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

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

⁶ ‎‎ ‎‎ ‎‎

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

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

⁷³

#	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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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