IBD25
MCID: INF063
MIFTS: 42

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 56 29 6 71
Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections Syndrome 52 58 6
Inflammatory Bowel Disease 25, Early Onset, Autosomal Recessive 56 29 13
Il10-Related Early-Onset Inflammatory Bowel Disease 52 58
Il10-Related Early-Onset Ibd 52 58
Ibd25 56 73
Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive 56
Autosomal Recessive Early-Onset Inflammatory Bowel Disease 52
Early-Onset Autosomal Recessive Inflammatory Bowel Disease 73
Bowel Disease, Inflammatory, Type 25, Autosomal Recessive 39
Inflammatory Bowel Disease 25 Autosomal Recessive 73
Autosomal Recessive Early-Onset Ibd 52
Inflammatory Bowel Disease 25 73

Characteristics:

Orphanet epidemiological data:

58
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
inflammatory bowel disease 25, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare systemic and rhumatological diseases
Rare immunological diseases


External Ids:

OMIM 56 612567
OMIM Phenotypic Series 56 PS266600
MeSH 43 D015212
ICD10 via Orphanet 33 K52.8
Orphanet 58 ORPHA238569
MedGen 41 C2675508
UMLS 71 C2675508

Summaries for Inflammatory Bowel Disease 25, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 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 ERK Signaling and TGF-Beta Pathway. Affiliated tissues include eye, colon and skin, and related phenotypes are rectovaginal fistula and perianal abscess

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 238569 Definition 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.

More information from OMIM: 612567 PS266600

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 Rare Inflammatory Bowel Disease

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 inflammatory bowel disease 25 32.4 IL10RB IBD25
2 inflammatory bowel disease 28, autosomal recessive 11.7
3 inflammatory bowel disease 28 11.7
4 folliculitis 9.9 IL10RB IL10RA
5 post-transplant lymphoproliferative disease 9.7 IL10RA IL10
6 cytomegalovirus retinitis 9.6 IL10RA IL10
7 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.6 IL10RA IL10
8 extrapulmonary tuberculosis 9.6 IL10RA IL10
9 mumps 9.4 RIPK1 IL10
10 lymphopenia 9.4 RIPK1 IL10
11 crohn's disease 9.3 IL10RB IL10RA IL10
12 autoimmune lymphoproliferative syndrome 9.3 RIPK1 IL10
13 ulcerative colitis 9.3 IL10RB IL10RA IL10
14 colitis 9.3 IL10RB IL10RA IL10
15 leishmaniasis 9.2 IL10RA IL10
16 inflammatory bowel disease 8.9 RIPK1 IL10RB IL10RA IL10

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

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

31
# Description HPO Frequency HPO Source Accession
1 rectovaginal fistula 31 HP:0000143
2 perianal abscess 31 HP:0009789
3 enterocolitis 31 HP:0004387
4 rectal abscess 31 HP:0005224
5 folliculitis 31 HP:0025084

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
rectovaginal fistula
perianal abscess
proctitis
severe enterocolitis in the first year of life
enterocutaneous fistula

Skin Nails Hair Skin:
enterocutaneous fistula
cutaneous folliculitis

Clinical features from OMIM:

612567

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

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.88 IL10RB IL10
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.88 IL10
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.88 IL10RB RIPK1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.88 IL10RB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.88 IL10RB IL10
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.88 IL10
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.88 IL10
8 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.88 RIPK1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.88 IL10
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.88 IL10
11 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.88 IL10RB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.88 IL10
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.88 IL10RB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.88 IL10
15 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.88 IL10
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.88 IL10
17 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.88 IL10
18 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.88 IL10
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.88 IL10RB
20 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.88 IL10
21 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.88 IL10
22 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.88 IL10
23 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.88 IL10RB
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.88 RIPK1 IL10

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 IL10 IL10RA IL10RB RIPK1

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
2 Inflammatory Bowel Disease 25, Early Onset, Autosomal Recessive 29

Anatomical Context for Inflammatory Bowel Disease 25, Autosomal Recessive

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

40
Eye, Colon, Skin, B Cells, Bone

Publications for Inflammatory Bowel Disease 25, Autosomal Recessive

Articles related to Inflammatory Bowel Disease 25, Autosomal Recessive:

# Title Authors PMID Year
1
Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. 56 6
21519361 2011
2
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. 56 6
19890111 2009
3
Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency. 6
24746753 2014
4
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 56
20228799 2010
5
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. 56
19122664 2009
6
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. 56
18758464 2008
7
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 56
17554300 2007
8
Pediatric Inflammatory Bowel Disease. 61
27889728 2016
9
Epidermolysis bullosa acquisita: a retrospective analysis of 12 patients evaluated in four tertiary hospitals in Spain. 61
24890437 2014

Variations for Inflammatory Bowel Disease 25, Autosomal Recessive

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

6 (show all 35) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RIPK1 NM_001354930.2(RIPK1):c.954del (p.Met318fs)deletion Pathogenic 598790 rs1561772403 6:3104497-3104497 6:3104263-3104263
2 RIPK1 NM_001354930.2(RIPK1):c.1278C>A (p.Tyr426Ter)SNV Pathogenic 598789 rs374657927 6:3105987-3105987 6:3105753-3105753
3 RIPK1 NM_001354930.2(RIPK1):c.1802G>A (p.Cys601Tyr)SNV Pathogenic 598791 rs1561780980 6:3113359-3113359 6:3113125-3113125
4 RIPK1 NM_001354930.2(RIPK1):c.1844T>C (p.Ile615Thr)SNV Pathogenic 598787 rs752183065 6:3113401-3113401 6:3113167-3113167
5 RIPK1 NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)SNV Pathogenic 598788 rs116040763 6:3113491-3113491 6:3113257-3113257
6 IL10RB NM_000628.5(IL10RB):c.477G>A (p.Trp159Ter)SNV Pathogenic 16924 rs121909601 21:34652202-34652202 21:33279897-33279897
7 IL10RB NM_000628.5(IL10RB):c.421G>T (p.Glu141Ter)SNV Pathogenic 41900 rs387907326 21:34652146-34652146 21:33279841-33279841
8 TGFB1 NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys)SNV Likely pathogenic 487577 rs1555755308 19:41858817-41858817 19:41352912-41352912
9 TGFB1 NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys)SNV Likely pathogenic 488345 rs1555755242 19:41858622-41858622 19:41352717-41352717
10 TGFB1 NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg)SNV Likely pathogenic 488346 rs1336387628 19:41836971-41836971 19:41331066-41331066
11 IL10RB NM_000628.5(IL10RB):c.611G>A (p.Trp204Ter)SNV Likely pathogenic 631881 rs1329427406 21:34655511-34655511 21:33283206-33283206
12 IL10RB NM_000628.5(IL10RB):c.73G>A (p.Glu25Lys)SNV Conflicting interpretations of pathogenicity 339691 rs80027572 21:34640722-34640722 21:33268417-33268417
13 IL10RB NM_000628.5(IL10RB):c.484G>A (p.Gly162Ser)SNV Uncertain significance 339694 rs770980693 21:34652209-34652209 21:33279904-33279904
14 IL10RB NC_000021.8:g.(?_34638751)_(34668714_?)dupduplication Uncertain significance 469406 21:34638751-34668714 21:33266446-33296409
15 IL10RB NM_000628.5(IL10RB):c.913G>A (p.Gly305Ser)SNV Uncertain significance 537182 rs376143910 21:34668597-34668597 21:33296292-33296292
16 IL10RB NM_000628.5(IL10RB):c.646G>A (p.Glu216Lys)SNV Uncertain significance 568167 21:34655546-34655546 21:33283241-33283241
17 IL10RB NM_000628.5(IL10RB):c.727G>T (p.Ala243Ser)SNV Uncertain significance 576700 21:34660489-34660489 21:33288184-33288184
18 IL10RB NM_000628.5(IL10RB):c.742G>A (p.Val248Ile)SNV Uncertain significance 576932 21:34660504-34660504 21:33288199-33288199
19 IL10RB NM_000628.5(IL10RB):c.911G>A (p.Ser304Asn)SNV Uncertain significance 577689 21:34668595-34668595 21:33296290-33296290
20 IL10RB NM_000628.5(IL10RB):c.718G>A (p.Gly240Ser)SNV Uncertain significance 566702 21:34660480-34660480 21:33288175-33288175
21 IL10RB NM_000628.5(IL10RB):c.442G>A (p.Val148Met)SNV Uncertain significance 537180 rs45545138 21:34652167-34652167 21:33279862-33279862
22 IL10RB NM_000628.5(IL10RB):c.446A>G (p.Tyr149Cys)SNV Uncertain significance 537181 rs1186719026 21:34652171-34652171 21:33279866-33279866
23 IL10RB NM_000628.5(IL10RB):c.328G>A (p.Asp110Asn)SNV Uncertain significance 662220 21:34649055-34649055 21:33276750-33276750
24 IL10RB NM_000628.5(IL10RB):c.332C>G (p.Thr111Ser)SNV Uncertain significance 652666 21:34652057-34652057 21:33279752-33279752
25 IL10RB NM_000628.5(IL10RB):c.650C>T (p.Thr217Met)SNV Uncertain significance 661791 21:34660412-34660412 21:33288107-33288107
26 IL10RB NM_000628.5(IL10RB):c.707T>C (p.Leu236Pro)SNV Uncertain significance 661440 21:34660469-34660469 21:33288164-33288164
27 IL10RB NM_000628.5(IL10RB):c.715C>A (p.Leu239Ile)SNV Uncertain significance 641708 21:34660477-34660477 21:33288172-33288172
28 IL10RB NM_000628.5(IL10RB):c.738G>T (p.Trp246Cys)SNV Uncertain significance 652763 21:34660500-34660500 21:33288195-33288195
29 IL10RB NM_000628.5(IL10RB):c.795C>A (p.His265Gln)SNV Uncertain significance 651724 21:34660557-34660557 21:33288252-33288252
30 IL10RB NM_000628.5(IL10RB):c.889G>A (p.Val297Ile)SNV Uncertain significance 644924 21:34668573-34668573 21:33296268-33296268
31 IL10RB NM_000628.5(IL10RB):c.949A>T (p.Thr317Ser)SNV Uncertain significance 639329 21:34668633-34668633 21:33296328-33296328
32 IL10RB NM_000628.5(IL10RB):c.727G>A (p.Ala243Thr)SNV Uncertain significance 339695 rs1058861 21:34660489-34660489 21:33288184-33288184
33 IL10RB NM_000628.5(IL10RB):c.50-4A>GSNV Likely benign 537185 rs377541013 21:34640695-34640695 21:33268390-33268390
34 IL10RB NM_000628.5(IL10RB):c.768C>T (p.Phe256=)SNV Likely benign 537183 rs1427524440 21:34660530-34660530 21:33288225-33288225
35 IL10RB NM_000628.5(IL10RB):c.465T>C (p.Asn155=)SNV Benign 537184 rs138883237 21:34652190-34652190 21:33279885-33279885

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 RIPK1 IL10RB IL10RA IL10
2
Show member pathways
13.05 RIPK1 IL10RB IL10RA IL10
3
Show member pathways
12.94 RIPK1 IL10RB IL10RA IL10
4
Show member pathways
12.49 RIPK1 IL10RB IL10RA
5
Show member pathways
12.21 IL10RB IL10RA IL10
6
Show member pathways
12.09 RIPK1 IL10RB IL10RA IL10
7
Show member pathways
11.97 IL10RB IL10RA IL10
8
Show member pathways
11.91 IL10RB IL10RA IL10
9
Show member pathways
11.89 IL10RB IL10RA IL10
10 11.84 IL10RB IL10RA IL10
11 11.44 IL10RB IL10RA IL10
12 11.02 IL10RB IL10RA IL10
13 10.79 IL10RB IL10RA IL10
14 10.34 IL10RB IL10RA IL10

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 cytokine-mediated signaling pathway GO:0019221 9.33 IL10RB IL10RA IL10
2 response to lipopolysaccharide GO:0032496 9.32 IL10RA IL10
3 negative regulation of autophagy GO:0010507 9.26 IL10RA IL10
4 regulation of synapse organization GO:0050807 8.96 IL10RA IL10
5 positive regulation of JAK-STAT cascade GO:0046427 8.8 IL10RB IL10RA IL10

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

# Name GO ID Score Top Affiliating Genes
1 cytokine receptor activity GO:0004896 8.96 IL10RB IL10RA
2 interleukin-10 receptor activity GO:0004920 8.62 IL10RB IL10RA

Sources for Inflammatory Bowel Disease 25, Autosomal Recessive

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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