IBDIMDE
MCID: INF173
MIFTS: 21

Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy (IBDIMDE)

Categories: Genetic diseases, Immune diseases, Neuronal diseases, Rare 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 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:



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

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:

31 (show all 13)
# Description HPO Frequency 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

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

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

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

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

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
29483653 2018

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 SNP ID
1 TGFB1 p.Arg45Cys VAR_081584
2 TGFB1 p.Arg110Cys VAR_081585
3 TGFB1 p.Cys387Arg VAR_081586

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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