IBDIMDE
MCID: INF173
MIFTS: 18

Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy (IBDIMDE)

Categories: Genetic diseases, Immune diseases

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:



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

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:

33 (show all 9)
# Description HPO Frequency 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

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

Search Clinical Trials , NIH Clinical Center 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:

42
T Cells, Brain

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 )
2018

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 SNP 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

Expression for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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