IBD28
MCID: INF064
MIFTS: 30

Inflammatory Bowel Disease 28, Autosomal Recessive (IBD28)

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

Aliases & Classifications for Inflammatory Bowel Disease 28, Autosomal Recessive

MalaCards integrated aliases for Inflammatory Bowel Disease 28, Autosomal Recessive:

Name: Inflammatory Bowel Disease 28, Autosomal Recessive 57 29 6 70
Inflammatory Bowel Disease 28, Early Onset, Autosomal Recessive 57 29 13
Ibd28 57 72
Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive 57
Early-Onset Autosomal Recessive Inflammatory Bowel Disease 72
Bowel Disease, Inflammatory, Type 28, Autosomal Recessive 39
Inflammatory Bowel Disease 28 Autosomal Recessive 72
Inflammatory Bowel Disease 28 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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 28, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 613148
OMIM Phenotypic Series 57 PS266600
MeSH 44 D015212
MedGen 41 C2751053
UMLS 70 C2751053

Summaries for Inflammatory Bowel Disease 28, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Inflammatory bowel disease 28: 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 28, Autosomal Recessive, also known as inflammatory bowel disease 28, early onset, autosomal recessive, is related to inflammatory bowel disease 28 and inflammatory bowel disease 25, autosomal recessive. An important gene associated with Inflammatory Bowel Disease 28, Autosomal Recessive is IL10RA (Interleukin 10 Receptor Subunit Alpha). Affiliated tissues include colon, and related phenotypes are growth delay and hematochezia

More information from OMIM: 613148 PS266600

Related Diseases for Inflammatory Bowel Disease 28, 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 30
Inflammatory Bowel Disease 28 Inflammatory Bowel Disease 25
Alpi-Related Inflammatory Bowel Disease Trim22-Related Inflammatory Bowel Disease
Rare Inflammatory Bowel Disease

Diseases related to Inflammatory Bowel Disease 28, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 inflammatory bowel disease 28 31.4 SMIM35 IL10RA
2 inflammatory bowel disease 25, autosomal recessive 11.7
3 inflammatory bowel disease 25 11.5
4 inflammatory bowel disease 10.0

Symptoms & Phenotypes for Inflammatory Bowel Disease 28, Autosomal Recessive

Human phenotypes related to Inflammatory Bowel Disease 28, Autosomal Recessive:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 growth delay 31 very rare (1%) HP:0001510
2 hematochezia 31 very rare (1%) HP:0002573
3 oral ulcer 31 very rare (1%) HP:0000155
4 crohn's disease 31 very rare (1%) HP:0100280
5 enterocolitis 31 very rare (1%) HP:0004387
6 perianal abscess 31 very rare (1%) HP:0009789
7 pyoderma 31 very rare (1%) HP:0000999
8 folliculitis 31 very rare (1%) HP:0025084

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
perianal abscess
severe enterocolitis in the first year of life
enteric fistula

Skin Nails Hair Skin:
chronic folliculitis

Clinical features from OMIM®:

613148 (Updated 20-May-2021)

Drugs & Therapeutics for Inflammatory Bowel Disease 28, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 28, Autosomal Recessive

Genetic Tests for Inflammatory Bowel Disease 28, Autosomal Recessive

Genetic tests related to Inflammatory Bowel Disease 28, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 28, Autosomal Recessive 29 IL10RA
2 Inflammatory Bowel Disease 28, Early Onset, Autosomal Recessive 29

Anatomical Context for Inflammatory Bowel Disease 28, Autosomal Recessive

MalaCards organs/tissues related to Inflammatory Bowel Disease 28, Autosomal Recessive:

40
Colon

Publications for Inflammatory Bowel Disease 28, Autosomal Recessive

Articles related to Inflammatory Bowel Disease 28, Autosomal Recessive:

(show all 13)
# Title Authors PMID Year
1
Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease. 57 6
22476154 2012
2
Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. 6 57
21519361 2011
3
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. 6 57
19890111 2009
4
Phenotype and Management of Infantile-onset Inflammatory Bowel Disease: Experience from a Tertiary Care Center in China. 6
29140941 2017
5
Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey. 6
28267044 2017
6
Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report. 6
26822028 2016
7
Novel de novo mutations of the interleukin-10 receptor gene lead to infantile onset inflammatory bowel disease. 6
24813381 2014
8
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. 6
22549091 2012
9
An integration-free iPSC line (SDQLCHi012-A) derived from a patient with inflammatory bowel disease- 28 carrying compound heterozygote mutations in IL10RA gene. 61
31648101 2019
10
A Prospective, Explorative Study to Assess Adjustment 1 Year After Ostomy Surgery Among Swedish Patients. 61
30059344 2018
11
Irritable bowel syndrome and active inflammatory bowel disease diagnosed by faecal gas analysis. 61
27862117 2017
12
Combined alpha-methylacyl coenzyme A racemase/p53 analysis to identify dysplasia in inflammatory bowel disease. 61
18835622 2009
13
[Streptococcus bovis endocarditis - predictor of colonic carcinoma? ]. 61
12626871 2003

Variations for Inflammatory Bowel Disease 28, Autosomal Recessive

ClinVar genetic disease variations for Inflammatory Bowel Disease 28, Autosomal Recessive:

6 (show top 50) (show all 183)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL10RA NM_001558.4(IL10RA):c.421G>A (p.Gly141Arg) SNV Pathogenic 14814 rs137853579 GRCh37: 11:117864009-117864009
GRCh38: 11:117993294-117993294
2 IL10RA NM_001558.4(IL10RA):c.251C>T (p.Thr84Ile) SNV Pathogenic 14815 rs137853580 GRCh37: 11:117860219-117860219
GRCh38: 11:117989504-117989504
3 IL10RA NM_001558.4(IL10RA):c.784C>T (p.Arg262Cys) SNV Pathogenic 39430 rs149491038 GRCh37: 11:117866399-117866399
GRCh38: 11:117995684-117995684
4 IL10RA NM_001558.4(IL10RA):c.301C>T (p.Arg101Trp) SNV Pathogenic 39432 rs368287711 GRCh37: 11:117860269-117860269
GRCh38: 11:117989554-117989554
5 IL10RA NM_001558.4(IL10RA):c.537G>A (p.Thr179=) SNV Pathogenic 830051 rs1419560997 GRCh37: 11:117864125-117864125
GRCh38: 11:117993410-117993410
6 IL10RA NM_001558.4(IL10RA):c.634C>T (p.Arg212Ter) SNV Pathogenic 830052 rs1591263883 GRCh37: 11:117864810-117864810
GRCh38: 11:117994095-117994095
7 IL10RA NM_001558.4(IL10RA):c.1_67+1del Deletion Pathogenic 1048075 GRCh37: 11:117857181-117857248
GRCh38: 11:117986466-117986533
8 IL10RA NM_001558.4(IL10RA):c.787C>T (p.Arg263Ter) SNV Likely pathogenic 802794 rs1192830343 GRCh37: 11:117866402-117866402
GRCh38: 11:117995687-117995687
9 IL10RA Deletion Likely pathogenic 1047917 GRCh37: 11:117857030-117857362
GRCh38: 11:117986315-117986647
10 IL10RA NM_001558.4(IL10RA):c.506T>C (p.Ile169Thr) SNV Likely pathogenic 943905 GRCh37: 11:117864094-117864094
GRCh38: 11:117993379-117993379
11 IL10RA NM_001558.4(IL10RA):c.698T>G (p.Val233Gly) SNV Conflicting interpretations of pathogenicity 470623 rs138929400 GRCh37: 11:117866313-117866313
GRCh38: 11:117995598-117995598
12 IL10RA NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp) SNV Conflicting interpretations of pathogenicity 252589 rs201396764 GRCh37: 11:117866396-117866396
GRCh38: 11:117995681-117995681
13 IL10RA NM_001558.4(IL10RA):c.96G>A (p.Val32=) SNV Conflicting interpretations of pathogenicity 302536 rs377525753 GRCh37: 11:117859125-117859125
GRCh38: 11:117988410-117988410
14 IL10RA NM_001558.4(IL10RA):c.1539G>A (p.Thr513=) SNV Conflicting interpretations of pathogenicity 538056 rs372503247 GRCh37: 11:117870158-117870158
GRCh38: 11:117999443-117999443
15 IL10RA NM_001558.3(IL10RA):c.67+8T>C SNV Conflicting interpretations of pathogenicity 470622 rs200992970 GRCh37: 11:117857257-117857257
GRCh38: 11:117986542-117986542
16 IL10RA NM_001558.4(IL10RA):c.931T>C (p.Leu311=) SNV Conflicting interpretations of pathogenicity 286333 rs148808529 GRCh37: 11:117869550-117869550
GRCh38: 11:117998835-117998835
17 IL10RA NM_001558.4(IL10RA):c.1401G>A (p.Ser467=) SNV Conflicting interpretations of pathogenicity 786141 rs150551465 GRCh37: 11:117870020-117870020
GRCh38: 11:117999305-117999305
18 IL10RA NM_001558.4(IL10RA):c.253G>A (p.Ala85Thr) SNV Uncertain significance 1054632 GRCh37: 11:117860221-117860221
GRCh38: 11:117989506-117989506
19 IL10RA NM_001558.4(IL10RA):c.1247C>G (p.Thr416Arg) SNV Uncertain significance 1057453 GRCh37: 11:117869866-117869866
GRCh38: 11:117999151-117999151
20 IL10RA NM_001558.4(IL10RA):c.1729A>T (p.Ser577Cys) SNV Uncertain significance 1059377 GRCh37: 11:117870348-117870348
GRCh38: 11:117999633-117999633
21 IL10RA NM_001558.4(IL10RA):c.538T>G (p.Phe180Val) SNV Uncertain significance 1060124 GRCh37: 11:117864714-117864714
GRCh38: 11:117993999-117993999
22 IL10RA NM_001558.4(IL10RA):c.1321G>A (p.Val441Met) SNV Uncertain significance 1060615 GRCh37: 11:117869940-117869940
GRCh38: 11:117999225-117999225
23 IL10RA NM_001558.4(IL10RA):c.1318G>T (p.Ala440Ser) SNV Uncertain significance 1063620 GRCh37: 11:117869937-117869937
GRCh38: 11:117999222-117999222
24 IL10RA NM_001558.4(IL10RA):c.751G>A (p.Ala251Thr) SNV Uncertain significance 470624 rs758334771 GRCh37: 11:117866366-117866366
GRCh38: 11:117995651-117995651
25 IL10RA NM_001558.4(IL10RA):c.447G>A (p.Lys149=) SNV Uncertain significance 302545 rs750580462 GRCh37: 11:117864035-117864035
GRCh38: 11:117993320-117993320
26 IL10RA , SMIM35 NM_001558.4(IL10RA):c.*676C>T SNV Uncertain significance 302565 rs756303257 GRCh37: 11:117871032-117871032
GRCh38: 11:118000317-118000317
27 IL10RA , SMIM35 NM_001558.4(IL10RA):c.*1722T>C SNV Uncertain significance 302579 rs886047714 GRCh37: 11:117872078-117872078
GRCh38: 11:118001363-118001363
28 IL10RA NM_001558.4(IL10RA):c.1452G>A (p.Glu484=) SNV Uncertain significance 302559 rs139576148 GRCh37: 11:117870071-117870071
GRCh38: 11:117999356-117999356
29 IL10RA , SMIM35 NM_001558.4(IL10RA):c.*1555C>T SNV Uncertain significance 302576 rs182393130 GRCh37: 11:117871911-117871911
GRCh38: 11:118001196-118001196
30 IL10RA NM_001558.3(IL10RA):c.67+15C>T SNV Uncertain significance 302533 rs886047708 GRCh37: 11:117857264-117857264
GRCh38: 11:117986549-117986549
31 IL10RA NM_001558.4(IL10RA):c.706G>A (p.Val236Ile) SNV Uncertain significance 302550 rs35473928 GRCh37: 11:117866321-117866321
GRCh38: 11:117995606-117995606
32 IL10RA NM_001558.4(IL10RA):c.1023C>A (p.His341Gln) SNV Uncertain significance 569202 rs369418818 GRCh37: 11:117869642-117869642
GRCh38: 11:117998927-117998927
33 IL10RA NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln) SNV Uncertain significance 302542 rs145949718 GRCh37: 11:117860288-117860288
GRCh38: 11:117989573-117989573
34 IL10RA NM_001558.4(IL10RA):c.574C>T (p.Leu192Phe) SNV Uncertain significance 570265 rs148964568 GRCh37: 11:117864750-117864750
GRCh38: 11:117994035-117994035
35 IL10RA NM_001558.4(IL10RA):c.1087_1095del (p.Gly363_Ser365del) Deletion Uncertain significance 571899 rs56384274 GRCh37: 11:117869706-117869714
GRCh38: 11:117998991-117998999
36 IL10RA NM_001558.4(IL10RA):c.302G>A (p.Arg101Gln) SNV Uncertain significance 499406 rs372372851 GRCh37: 11:117860270-117860270
GRCh38: 11:117989555-117989555
37 IL10RA NM_001558.4(IL10RA):c.1145G>C (p.Ser382Thr) SNV Uncertain significance 578635 rs376309967 GRCh37: 11:117869764-117869764
GRCh38: 11:117999049-117999049
38 IL10RA NM_001558.4(IL10RA):c.762G>A (p.Leu254=) SNV Uncertain significance 638838 rs1033025102 GRCh37: 11:117866377-117866377
GRCh38: 11:117995662-117995662
39 IL10RA NM_001558.4(IL10RA):c.1631A>T (p.Asp544Val) SNV Uncertain significance 639004 rs550530605 GRCh37: 11:117870250-117870250
GRCh38: 11:117999535-117999535
40 IL10RA NM_001558.4(IL10RA):c.1693C>A (p.Leu565Met) SNV Uncertain significance 639839 rs375201461 GRCh37: 11:117870312-117870312
GRCh38: 11:117999597-117999597
41 IL10RA NM_001558.4(IL10RA):c.514C>T (p.Arg172Cys) SNV Uncertain significance 640297 rs773555674 GRCh37: 11:117864102-117864102
GRCh38: 11:117993387-117993387
42 IL10RA NM_001558.4(IL10RA):c.407A>G (p.Asn136Ser) SNV Uncertain significance 642967 rs150401784 GRCh37: 11:117863995-117863995
GRCh38: 11:117993280-117993280
43 IL10RA NM_001558.4(IL10RA):c.161G>C (p.Ser54Thr) SNV Uncertain significance 645586 rs772899933 GRCh37: 11:117859190-117859190
GRCh38: 11:117988475-117988475
44 IL10RA NM_001558.4(IL10RA):c.1169A>T (p.Gln390Leu) SNV Uncertain significance 646202 rs1591266369 GRCh37: 11:117869788-117869788
GRCh38: 11:117999073-117999073
45 IL10RA NM_001558.4(IL10RA):c.628G>A (p.Ala210Thr) SNV Uncertain significance 648446 rs779757879 GRCh37: 11:117864804-117864804
GRCh38: 11:117994089-117994089
46 IL10RA NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys) SNV Uncertain significance 284995 rs201643277 GRCh37: 11:117859199-117859199
GRCh38: 11:117988484-117988484
47 IL10RA NM_001558.4(IL10RA):c.1538C>T (p.Thr513Met) SNV Uncertain significance 653730 rs370255112 GRCh37: 11:117870157-117870157
GRCh38: 11:117999442-117999442
48 IL10RA NM_001558.4(IL10RA):c.883C>T (p.Pro295Ser) SNV Uncertain significance 657210 rs201777547 GRCh37: 11:117869502-117869502
GRCh38: 11:117998787-117998787
49 IL10RA NM_001558.4(IL10RA):c.559_579dup (p.His187_Leu193dup) Duplication Uncertain significance 658648 rs781485945 GRCh37: 11:117864733-117864734
GRCh38: 11:117994018-117994019
50 IL10RA NM_001558.4(IL10RA):c.16G>C (p.Val6Leu) SNV Uncertain significance 658749 rs989694807 GRCh37: 11:117857198-117857198
GRCh38: 11:117986483-117986483

UniProtKB/Swiss-Prot genetic disease variations for Inflammatory Bowel Disease 28, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 IL10RA p.Thr84Ile VAR_063542 rs137853580
2 IL10RA p.Gly141Arg VAR_063543 rs137853579
3 IL10RA p.Trp69Arg VAR_071663 rs134353419
4 IL10RA p.Tyr91Cys VAR_071664
5 IL10RA p.Arg101Trp VAR_071665 rs368287711
6 IL10RA p.Arg117His VAR_071666 rs199989396
7 IL10RA p.Arg262Cys VAR_071667 rs149491038

Expression for Inflammatory Bowel Disease 28, Autosomal Recessive

Search GEO for disease gene expression data for Inflammatory Bowel Disease 28, Autosomal Recessive.

Pathways for Inflammatory Bowel Disease 28, Autosomal Recessive

GO Terms for Inflammatory Bowel Disease 28, Autosomal Recessive

Sources for Inflammatory Bowel Disease 28, Autosomal Recessive

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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