IBD25
MCID: INF063
MIFTS: 41

Inflammatory Bowel Disease 25, Autosomal Recessive (IBD25)

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Inflammatory Bowel Disease 25, Autosomal Recessive

MalaCards integrated aliases for Inflammatory Bowel Disease 25, Autosomal Recessive:

Name: Inflammatory Bowel Disease 25, Autosomal Recessive 57 29 6 73
Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections Syndrome 53 59 6
Inflammatory Bowel Disease 25, Early Onset, Autosomal Recessive 57 13
Il10-Related Early-Onset Inflammatory Bowel Disease 53 59
Il10-Related Early-Onset Ibd 53 59
Ibd25 57 75
Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive 57
Autosomal Recessive Early-Onset Inflammatory Bowel Disease 53
Early-Onset Autosomal Recessive Inflammatory Bowel Disease 75
Bowel Disease, Inflammatory, Type 25, Autosomal Recessive 40
Inflammatory Bowel Disease 25 Autosomal Recessive 75
Autosomal Recessive Early-Onset Ibd 53
Inflammatory Bowel Disease 25 75

Characteristics:

Orphanet epidemiological data:

59
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of disease within the first year of life
patients may have recurrent infections due to immunosuppressive therapy


HPO:

32
inflammatory bowel disease 25, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612567
Orphanet 59 ORPHA238569
ICD10 via Orphanet 34 K52.8
MedGen 42 C2675508
MeSH 44 D015212
UMLS 73 C2675508

Summaries for Inflammatory Bowel Disease 25, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Inflammatory bowel disease 25: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints.

MalaCards based summary : Inflammatory Bowel Disease 25, Autosomal Recessive, also known as immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome, is related to inflammatory bowel disease 25 and inflammatory bowel disease 28, autosomal recessive. An important gene associated with Inflammatory Bowel Disease 25, Autosomal Recessive is IL10RB (Interleukin 10 Receptor Subunit Beta), and among its related pathways/superpathways are PEDF Induced Signaling and TGF-Beta Pathway. Affiliated tissues include skin, colon and eye, and related phenotypes are rectovaginal fistula and enterocolitis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 238569Disease definitionImmune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.Visit the Orphanet disease page for more resources.

Description from OMIM: 612567

Related Diseases for Inflammatory Bowel Disease 25, Autosomal Recessive

Diseases in the Inflammatory Bowel Disease family:

Inflammatory Bowel Disease 11 Inflammatory Bowel Disease 1
Inflammatory Bowel Disease 2 Inflammatory Bowel Disease 3
Inflammatory Bowel Disease 7 Inflammatory Bowel Disease 5
Inflammatory Bowel Disease 8 Inflammatory Bowel Disease 6
Inflammatory Bowel Disease 4 Inflammatory Bowel Disease 9
Inflammatory Bowel Disease 10 Inflammatory Bowel Disease 12
Inflammatory Bowel Disease 13 Inflammatory Bowel Disease 14
Inflammatory Bowel Disease 15 Inflammatory Bowel Disease 16
Inflammatory Bowel Disease 17 Inflammatory Bowel Disease 18
Inflammatory Bowel Disease 19 Inflammatory Bowel Disease 20
Inflammatory Bowel Disease 21 Inflammatory Bowel Disease 22
Inflammatory Bowel Disease 23 Inflammatory Bowel Disease 24
Inflammatory Bowel Disease 25, Autosomal Recessive Inflammatory Bowel Disease 26
Inflammatory Bowel Disease 27 Inflammatory Bowel Disease 28, Autosomal Recessive
Inflammatory Bowel Disease 29 Inflammatory Bowel Disease 28
Inflammatory Bowel Disease 25

Diseases related to Inflammatory Bowel Disease 25, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 inflammatory bowel disease 25 32.3 IBD25 IL10RB
2 inflammatory bowel disease 28, autosomal recessive 11.5
3 inflammatory bowel disease 28 11.5
4 rubella 10.0 IL10 IL10RB
5 juvenile myasthenia gravis 10.0 IL10 TGFB1
6 clonorchiasis 10.0 IL10 TGFB1
7 tuberculoid leprosy 10.0 IL10 TGFB1
8 chronic active epstein-barr virus infection 10.0 IL10 TGFB1
9 paranasal sinus disease 10.0 IL10 TGFB1
10 idiopathic neutropenia 10.0 IL10 TGFB1
11 prostatitis 10.0 IL10 TGFB1
12 rheumatic heart disease 10.0 IL10 TGFB1
13 ureteral obstruction 9.9 IL10 TGFB1
14 chronic fatigue syndrome 9.9 IL10 TGFB1
15 chagas disease 9.9 IL10 TGFB1
16 respiratory system disease 9.9 IL10 TGFB1
17 post-transplant lymphoproliferative disease 9.9 IL10 IL10RA
18 extrapulmonary tuberculosis 9.9 IL10 IL10RA
19 interstitial lung disease 9.9 IL10 TGFB1
20 aging 9.9 IL10 TGFB1
21 leishmaniasis 9.8 IL10 TGFB1
22 hepatitis b 9.8 IL10RB TGFB1
23 crohn's disease 9.8 IL10 IL10RA IL10RB
24 ulcerative colitis 9.7 IL10 IL10RA IL10RB
25 colitis 9.7 IL10 IL10RA IL10RB
26 inflammatory bowel disease 9.5 IL10 IL10RA IL10RB TGFB1

Graphical network of the top 20 diseases related to Inflammatory Bowel Disease 25, Autosomal Recessive:



Diseases related to Inflammatory Bowel Disease 25, Autosomal Recessive

Symptoms & Phenotypes for Inflammatory Bowel Disease 25, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
rectovaginal fistula
proctitis
severe enterocolitis in the first year of life
perianal abscess
enterocutaneous fistula

Skin Nails Hair Skin:
enterocutaneous fistula
cutaneous folliculitis


Clinical features from OMIM:

612567

Human phenotypes related to Inflammatory Bowel Disease 25, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 rectovaginal fistula 32 HP:0000143
2 enterocolitis 32 HP:0004387
3 rectal abscess 32 HP:0005224
4 folliculitis 32 HP:0025084
5 perianal abscess 32 HP:0009789

GenomeRNAi Phenotypes related to Inflammatory Bowel Disease 25, Autosomal Recessive according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 8.8 IL10 TGFB1
2 Decreased viability with paclitaxel GR00179-A-3 8.8 TGFB1

MGI Mouse Phenotypes related to Inflammatory Bowel Disease 25, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 IL10 IL10RA IL10RB TGFB1

Drugs & Therapeutics for Inflammatory Bowel Disease 25, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 25, Autosomal Recessive

Genetic Tests for Inflammatory Bowel Disease 25, Autosomal Recessive

Genetic tests related to Inflammatory Bowel Disease 25, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 25, Autosomal Recessive 29 IL10RB

Anatomical Context for Inflammatory Bowel Disease 25, Autosomal Recessive

MalaCards organs/tissues related to Inflammatory Bowel Disease 25, Autosomal Recessive:

41
Skin, Colon, Eye, B Cells, Bone, Lung, Heart

Publications for Inflammatory Bowel Disease 25, Autosomal Recessive

Variations for Inflammatory Bowel Disease 25, Autosomal Recessive

ClinVar genetic disease variations for Inflammatory Bowel Disease 25, Autosomal Recessive:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL10RB NM_000628.4(IL10RB): c.477G> A (p.Trp159Ter) single nucleotide variant Pathogenic rs121909601 GRCh37 Chromosome 21, 34652202: 34652202
2 IL10RB NM_000628.4(IL10RB): c.477G> A (p.Trp159Ter) single nucleotide variant Pathogenic rs121909601 GRCh38 Chromosome 21, 33279897: 33279897
3 IL10RB NM_000628.4(IL10RB): c.421G> T (p.Glu141Ter) single nucleotide variant Pathogenic rs387907326 GRCh37 Chromosome 21, 34652146: 34652146
4 IL10RB NM_000628.4(IL10RB): c.421G> T (p.Glu141Ter) single nucleotide variant Pathogenic rs387907326 GRCh38 Chromosome 21, 33279841: 33279841
5 IL10RB NM_000628.4(IL10RB): c.73G> A (p.Glu25Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs80027572 GRCh38 Chromosome 21, 33268417: 33268417
6 IL10RB NM_000628.4(IL10RB): c.73G> A (p.Glu25Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs80027572 GRCh37 Chromosome 21, 34640722: 34640722
7 IL10RB NC_000021.9: g.(?_33266446)_(33296409_?)dup duplication Uncertain significance GRCh37 Chromosome 21, 34638751: 34668714
8 IL10RB NC_000021.9: g.(?_33266446)_(33296409_?)dup duplication Uncertain significance GRCh38 Chromosome 21, 33266446: 33296409
9 TGFB1 NM_000660.6(TGFB1): c.133C> T (p.Arg45Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 41858817: 41858817
10 TGFB1 NM_000660.6(TGFB1): c.133C> T (p.Arg45Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 41352912: 41352912
11 TGFB1 NM_000660.6(TGFB1): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 41352717: 41352717
12 TGFB1 NM_000660.6(TGFB1): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 41858622: 41858622
13 TGFB1 NM_000660.6(TGFB1): c.1159T> C (p.Cys387Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 41836971: 41836971
14 TGFB1 NM_000660.6(TGFB1): c.1159T> C (p.Cys387Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 41331066: 41331066
15 IL10RB NM_000628.4(IL10RB): c.50-4A> G single nucleotide variant Likely benign rs377541013 GRCh38 Chromosome 21, 33268390: 33268390
16 IL10RB NM_000628.4(IL10RB): c.50-4A> G single nucleotide variant Likely benign rs377541013 GRCh37 Chromosome 21, 34640695: 34640695
17 IL10RB NM_000628.4(IL10RB): c.768C> T (p.Phe256=) single nucleotide variant Likely benign GRCh38 Chromosome 21, 33288225: 33288225
18 IL10RB NM_000628.4(IL10RB): c.768C> T (p.Phe256=) single nucleotide variant Likely benign GRCh37 Chromosome 21, 34660530: 34660530
19 IL10RB NM_000628.4(IL10RB): c.442G> A (p.Val148Met) single nucleotide variant Uncertain significance rs45545138 GRCh37 Chromosome 21, 34652167: 34652167
20 IL10RB NM_000628.4(IL10RB): c.442G> A (p.Val148Met) single nucleotide variant Uncertain significance rs45545138 GRCh38 Chromosome 21, 33279862: 33279862
21 IL10RB NM_000628.4(IL10RB): c.446A> G (p.Tyr149Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 21, 33279866: 33279866
22 IL10RB NM_000628.4(IL10RB): c.446A> G (p.Tyr149Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 21, 34652171: 34652171
23 IL10RB NM_000628.4(IL10RB): c.465T> C (p.Asn155=) single nucleotide variant Benign rs138883237 GRCh37 Chromosome 21, 34652190: 34652190
24 IL10RB NM_000628.4(IL10RB): c.465T> C (p.Asn155=) single nucleotide variant Benign rs138883237 GRCh38 Chromosome 21, 33279885: 33279885
25 IL10RB NM_000628.4(IL10RB): c.913G> A (p.Gly305Ser) single nucleotide variant Uncertain significance rs376143910 GRCh37 Chromosome 21, 34668597: 34668597
26 IL10RB NM_000628.4(IL10RB): c.913G> A (p.Gly305Ser) single nucleotide variant Uncertain significance rs376143910 GRCh38 Chromosome 21, 33296292: 33296292
27 IL10RB NM_000628.4(IL10RB): c.646G> A (p.Glu216Lys) single nucleotide variant Uncertain significance rs45469692 GRCh37 Chromosome 21, 34655546: 34655546
28 IL10RB NM_000628.4(IL10RB): c.646G> A (p.Glu216Lys) single nucleotide variant Uncertain significance rs45469692 GRCh38 Chromosome 21, 33283241: 33283241
29 IL10RB NM_000628.4(IL10RB): c.727G> T (p.Ala243Ser) single nucleotide variant Uncertain significance rs1058861 GRCh37 Chromosome 21, 34660489: 34660489
30 IL10RB NM_000628.4(IL10RB): c.727G> T (p.Ala243Ser) single nucleotide variant Uncertain significance rs1058861 GRCh38 Chromosome 21, 33288184: 33288184
31 IL10RB NM_000628.4(IL10RB): c.742G> A (p.Val248Ile) single nucleotide variant Uncertain significance rs777216483 GRCh37 Chromosome 21, 34660504: 34660504
32 IL10RB NM_000628.4(IL10RB): c.742G> A (p.Val248Ile) single nucleotide variant Uncertain significance rs777216483 GRCh38 Chromosome 21, 33288199: 33288199
33 IL10RB NM_000628.4(IL10RB): c.911G> A (p.Ser304Asn) single nucleotide variant Uncertain significance rs762692366 GRCh37 Chromosome 21, 34668595: 34668595
34 IL10RB NM_000628.4(IL10RB): c.911G> A (p.Ser304Asn) single nucleotide variant Uncertain significance rs762692366 GRCh38 Chromosome 21, 33296290: 33296290
35 IL10RB NM_000628.4(IL10RB): c.718G> A (p.Gly240Ser) single nucleotide variant Uncertain significance rs777514296 GRCh37 Chromosome 21, 34660480: 34660480
36 IL10RB NM_000628.4(IL10RB): c.718G> A (p.Gly240Ser) single nucleotide variant Uncertain significance rs777514296 GRCh38 Chromosome 21, 33288175: 33288175

Expression for Inflammatory Bowel Disease 25, Autosomal Recessive

Search GEO for disease gene expression data for Inflammatory Bowel Disease 25, Autosomal Recessive.

Pathways for Inflammatory Bowel Disease 25, Autosomal Recessive

Pathways related to Inflammatory Bowel Disease 25, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.25 IL10 IL10RA IL10RB TGFB1
2
Show member pathways
13.13 IL10 IL10RA IL10RB TGFB1
3
Show member pathways
13.02 IL10 IL10RA IL10RB TGFB1
4
Show member pathways
12.95 IL10 IL10RA IL10RB TGFB1
5
Show member pathways
12.86 IL10 IL10RA IL10RB TGFB1
6
Show member pathways
12.68 IL10RA IL10RB TGFB1
7
Show member pathways
12.47 IL10 IL10RA IL10RB TGFB1
8
Show member pathways
12.28 IL10 IL10RA IL10RB
9
Show member pathways
12.24 IL10 IL10RB TGFB1
10
Show member pathways
12.22 IL10 IL10RA IL10RB
11
Show member pathways
12.02 IL10 IL10RA IL10RB
12
Show member pathways
11.77 IL10 TGFB1
13
Show member pathways
11.74 IL10 TGFB1
14
Show member pathways
11.73 IL10 IL10RA IL10RB TGFB1
15
Show member pathways
11.68 IL10 IL10RA IL10RB TGFB1
16 11.66 IL10 TGFB1
17 11.58 IL10 TGFB1
18 11.52 IL10 IL10RA IL10RB
19 11.51 IL10 IL10RA IL10RB TGFB1
20 11.45 IL10 TGFB1
21 11.43 IL10 TGFB1
22 11.25 IL10 TGFB1
23 11.19 IL10 IL10RA IL10RB
24 10.98 IL10 IL10RA IL10RB
25 10.92 IL10 TGFB1
26 10.58 IL10 IL10RA IL10RB TGFB1

GO Terms for Inflammatory Bowel Disease 25, Autosomal Recessive

Biological processes related to Inflammatory Bowel Disease 25, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.58 IL10 IL10RB TGFB1
2 response to organic substance GO:0010033 9.43 IL10 TGFB1
3 negative regulation of T cell proliferation GO:0042130 9.37 IL10 TGFB1
4 liver regeneration GO:0097421 9.32 IL10 TGFB1
5 negative regulation of mitotic cell cycle GO:0045930 9.26 IL10 TGFB1
6 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.16 IL10 TGFB1
7 regulation of synapse organization GO:0050807 8.96 IL10 IL10RA
8 cytokine-mediated signaling pathway GO:0019221 8.92 IL10 IL10RA IL10RB TGFB1

Molecular functions related to Inflammatory Bowel Disease 25, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interleukin-10 receptor activity GO:0004920 8.62 IL10RA IL10RB

Sources for Inflammatory Bowel Disease 25, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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