IBDIMDE
MCID: INF173
MIFTS: 22

Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy (IBDIMDE)

Categories: Blood diseases, Gastrointestinal diseases, 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 57 72 29 6 17
Ibdimde 57 72
Infantile Inflammatory Bowel Disease with Neurological Involvement 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-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:

Orphanet: 58  
Rare neurological diseases
Rare gastroenterological diseases
Rare immunological diseases


Summaries for Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy

UniProtKB/Swiss-Prot : 72 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

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 26)
# 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 anoperineal fistula 31 very rare (1%) HP:0005218
13 severe varicella zoster infection 31 very rare (1%) HP:0032170
14 increased circulating ige level 31 very rare (1%) HP:0003212
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-Apr-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-Apr-2021)

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

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. 57 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 Position
1 TGFB1 NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg) SNV Likely pathogenic 488346 rs1336387628 GRCh37: 19:41836971-41836971
GRCh38: 19:41331066-41331066
2 TGFB1 NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys) SNV Likely pathogenic 488345 rs1555755242 GRCh37: 19:41858622-41858622
GRCh38: 19:41352717-41352717
3 TGFB1 NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys) SNV Likely pathogenic 487577 rs1555755308 GRCh37: 19:41858817-41858817
GRCh38: 19:41352912-41352912
4 TGFB1 NM_000660.7(TGFB1):c.715T>A (p.Phe239Ile) SNV Uncertain significance 1029928 GRCh37: 19:41847933-41847933
GRCh38: 19:41342028-41342028

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

72
# 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....