MCID: INF064
MIFTS: 23

Inflammatory Bowel Disease 28, Autosomal Recessive

Categories: Genetic diseases, Gastrointestinal diseases, Rare diseases, Bone diseases, Blood diseases, Immune 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 73
Inflammatory Bowel Disease 28, Early Onset, Autosomal Recessive 57 13
Ibd28 57 75
Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive 57
Early-Onset Autosomal Recessive Inflammatory Bowel Disease 75
Bowel Disease, Inflammatory, Type 28, Autosomal Recessive 40
Inflammatory Bowel Disease 28 Autosomal Recessive 75
Inflammatory Bowel Disease 28 75

Characteristics:

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 28, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613148
MedGen 42 C2751053
MeSH 44 D015212
UMLS 73 C2751053

Summaries for Inflammatory Bowel Disease 28, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 25, autosomal recessive and inflammatory bowel disease 28. An important gene associated with Inflammatory Bowel Disease 28, Autosomal Recessive is IL10RA (Interleukin 10 Receptor Subunit Alpha). Affiliated tissues include skin, colon and eye, and related phenotypes are pyoderma and hematochezia

Description from OMIM: 613148

Related Diseases for Inflammatory Bowel Disease 28, Autosomal Recessive

Symptoms & Phenotypes for Inflammatory Bowel Disease 28, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
severe enterocolitis in the first year of life
enteric fistula
perianal abscess

Skin Nails Hair Skin:
chronic folliculitis


Clinical features from OMIM:

613148

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

32
# Description HPO Frequency HPO Source Accession
1 pyoderma 32 HP:0000999
2 hematochezia 32 HP:0002573
3 enterocolitis 32 HP:0004387
4 perianal abscess 32 HP:0009789

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

Anatomical Context for Inflammatory Bowel Disease 28, Autosomal Recessive

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

41
Skin, Colon, Eye

Publications for Inflammatory Bowel Disease 28, Autosomal Recessive

Variations for Inflammatory Bowel Disease 28, Autosomal Recessive

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

75
# 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
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

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

6
(show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL10RA NM_001558.3(IL10RA): c.475A> G (p.Ser159Gly) single nucleotide variant Benign/Likely benign rs3135932 GRCh37 Chromosome 11, 117864063: 117864063
2 IL10RA NM_001558.3(IL10RA): c.475A> G (p.Ser159Gly) single nucleotide variant Benign/Likely benign rs3135932 GRCh38 Chromosome 11, 117993348: 117993348
3 IL10RA NM_001558.3(IL10RA): c.21G> C (p.Val7=) single nucleotide variant Benign rs4252301 GRCh37 Chromosome 11, 117857203: 117857203
4 IL10RA NM_001558.3(IL10RA): c.21G> C (p.Val7=) single nucleotide variant Benign rs4252301 GRCh38 Chromosome 11, 117986488: 117986488
5 IL10RA NM_001558.3(IL10RA): c.170A> G (p.Tyr57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201643277 GRCh37 Chromosome 11, 117859199: 117859199
6 IL10RA NM_001558.3(IL10RA): c.170A> G (p.Tyr57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201643277 GRCh38 Chromosome 11, 117988484: 117988484
7 IL10RA NM_001558.3(IL10RA): c.931T> C (p.Leu311=) single nucleotide variant Conflicting interpretations of pathogenicity rs148808529 GRCh37 Chromosome 11, 117869550: 117869550
8 IL10RA NM_001558.3(IL10RA): c.931T> C (p.Leu311=) single nucleotide variant Conflicting interpretations of pathogenicity rs148808529 GRCh38 Chromosome 11, 117998835: 117998835
9 IL10RA NM_001558.3(IL10RA): c.144C> T (p.Ile48=) single nucleotide variant Conflicting interpretations of pathogenicity rs140466541 GRCh37 Chromosome 11, 117859173: 117859173
10 IL10RA NM_001558.3(IL10RA): c.144C> T (p.Ile48=) single nucleotide variant Conflicting interpretations of pathogenicity rs140466541 GRCh38 Chromosome 11, 117988458: 117988458
11 IL10RA NM_001558.3(IL10RA): c.181C> G (p.Leu61Val) single nucleotide variant Benign/Likely benign rs4252250 GRCh37 Chromosome 11, 117859210: 117859210
12 IL10RA NM_001558.3(IL10RA): c.181C> G (p.Leu61Val) single nucleotide variant Benign/Likely benign rs4252250 GRCh38 Chromosome 11, 117988495: 117988495
13 IL10RA NM_001558.3(IL10RA): c.337G> A (p.Val113Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs4252303 GRCh37 Chromosome 11, 117860305: 117860305
14 IL10RA NM_001558.3(IL10RA): c.337G> A (p.Val113Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs4252303 GRCh38 Chromosome 11, 117989590: 117989590
15 IL10RA NM_001558.3(IL10RA): c.1259C> T (p.Ser420Leu) single nucleotide variant Benign/Likely benign rs2229114 GRCh37 Chromosome 11, 117869878: 117869878
16 IL10RA NM_001558.3(IL10RA): c.1259C> T (p.Ser420Leu) single nucleotide variant Benign/Likely benign rs2229114 GRCh38 Chromosome 11, 117999163: 117999163
17 IL10RA NM_001558.3(IL10RA): c.696C> T (p.Thr232=) single nucleotide variant Conflicting interpretations of pathogenicity rs4252311 GRCh37 Chromosome 11, 117866311: 117866311
18 IL10RA NM_001558.3(IL10RA): c.696C> T (p.Thr232=) single nucleotide variant Conflicting interpretations of pathogenicity rs4252311 GRCh38 Chromosome 11, 117995596: 117995596
19 IL10RA NM_001558.3(IL10RA): c.972C> T (p.Thr324=) single nucleotide variant Benign/Likely benign rs2229115 GRCh38 Chromosome 11, 117998876: 117998876
20 IL10RA NM_001558.3(IL10RA): c.972C> T (p.Thr324=) single nucleotide variant Benign/Likely benign rs2229115 GRCh37 Chromosome 11, 117869591: 117869591
21 IL10RA NM_001558.3(IL10RA): c.67+8T> C single nucleotide variant Benign/Likely benign rs200992970 GRCh37 Chromosome 11, 117857257: 117857257
22 IL10RA NM_001558.3(IL10RA): c.67+8T> C single nucleotide variant Benign/Likely benign rs200992970 GRCh38 Chromosome 11, 117986542: 117986542
23 IL10RA NM_001558.3(IL10RA): c.1360G> A (p.Glu454Lys) single nucleotide variant Likely benign rs79887053 GRCh37 Chromosome 11, 117869979: 117869979
24 IL10RA NM_001558.3(IL10RA): c.1360G> A (p.Glu454Lys) single nucleotide variant Likely benign rs79887053 GRCh38 Chromosome 11, 117999264: 117999264
25 IL10RA NM_001558.3(IL10RA): c.136A> G (p.Thr46Ala) single nucleotide variant Benign rs112317511 GRCh37 Chromosome 11, 117859165: 117859165
26 IL10RA NM_001558.3(IL10RA): c.136A> G (p.Thr46Ala) single nucleotide variant Benign rs112317511 GRCh38 Chromosome 11, 117988450: 117988450
27 IL10RA NM_001558.3(IL10RA): c.312C> T (p.Asp104=) single nucleotide variant Benign rs35511069 GRCh37 Chromosome 11, 117860280: 117860280
28 IL10RA NM_001558.3(IL10RA): c.312C> T (p.Asp104=) single nucleotide variant Benign rs35511069 GRCh38 Chromosome 11, 117989565: 117989565
29 IL10RA NM_001558.3(IL10RA): c.698T> G (p.Val233Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs138929400 GRCh37 Chromosome 11, 117866313: 117866313
30 IL10RA NM_001558.3(IL10RA): c.698T> G (p.Val233Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs138929400 GRCh38 Chromosome 11, 117995598: 117995598
31 IL10RA NM_001558.3(IL10RA): c.811-9C> T single nucleotide variant Likely benign rs200641281 GRCh38 Chromosome 11, 117998706: 117998706
32 IL10RA NM_001558.3(IL10RA): c.811-9C> T single nucleotide variant Likely benign rs200641281 GRCh37 Chromosome 11, 117869421: 117869421
33 IL10RA NM_001558.3(IL10RA): c.90G> A (p.Pro30=) single nucleotide variant Likely benign rs747872407 GRCh38 Chromosome 11, 117988404: 117988404
34 IL10RA NM_001558.3(IL10RA): c.90G> A (p.Pro30=) single nucleotide variant Likely benign rs747872407 GRCh37 Chromosome 11, 117859119: 117859119
35 IL10RA NM_001558.3(IL10RA): c.751G> A (p.Ala251Thr) single nucleotide variant Uncertain significance rs758334771 GRCh38 Chromosome 11, 117995651: 117995651
36 IL10RA NM_001558.3(IL10RA): c.751G> A (p.Ala251Thr) single nucleotide variant Uncertain significance rs758334771 GRCh37 Chromosome 11, 117866366: 117866366
37 IL10RA NM_001558.3(IL10RA): c.252C> T (p.Thr84=) single nucleotide variant Likely benign rs763662644 GRCh37 Chromosome 11, 117860220: 117860220
38 IL10RA NM_001558.3(IL10RA): c.252C> T (p.Thr84=) single nucleotide variant Likely benign rs763662644 GRCh38 Chromosome 11, 117989505: 117989505
39 IL10RA NM_001558.3(IL10RA): c.1041G> A (p.Thr347=) single nucleotide variant Benign rs62636561 GRCh38 Chromosome 11, 117998945: 117998945
40 IL10RA NM_001558.3(IL10RA): c.1041G> A (p.Thr347=) single nucleotide variant Benign rs62636561 GRCh37 Chromosome 11, 117869660: 117869660
41 IL10RA NM_001558.3(IL10RA): c.1072G> A (p.Asp358Asn) single nucleotide variant Uncertain significance rs78753252 GRCh38 Chromosome 11, 117998976: 117998976
42 IL10RA NM_001558.3(IL10RA): c.1072G> A (p.Asp358Asn) single nucleotide variant Uncertain significance rs78753252 GRCh37 Chromosome 11, 117869691: 117869691
43 IL10RA NM_001558.3(IL10RA): c.420C> T (p.Leu140=) single nucleotide variant Likely benign rs201857411 GRCh38 Chromosome 11, 117993293: 117993293
44 IL10RA NM_001558.3(IL10RA): c.420C> T (p.Leu140=) single nucleotide variant Likely benign rs201857411 GRCh37 Chromosome 11, 117864008: 117864008
45 IL10RA NM_001558.3(IL10RA): c.697G> A (p.Val233Met) single nucleotide variant Benign rs41354146 GRCh38 Chromosome 11, 117995597: 117995597
46 IL10RA NM_001558.3(IL10RA): c.697G> A (p.Val233Met) single nucleotide variant Benign rs41354146 GRCh37 Chromosome 11, 117866312: 117866312
47 IL10RA NM_001558.3(IL10RA): c.1234C> T (p.Arg412Trp) single nucleotide variant Uncertain significance rs143538561 GRCh38 Chromosome 11, 117999138: 117999138
48 IL10RA NM_001558.3(IL10RA): c.1234C> T (p.Arg412Trp) single nucleotide variant Uncertain significance rs143538561 GRCh37 Chromosome 11, 117869853: 117869853
49 IL10RA NM_001558.3(IL10RA): c.1518G> A (p.Leu506=) single nucleotide variant Likely benign rs187556084 GRCh38 Chromosome 11, 117999422: 117999422
50 IL10RA NM_001558.3(IL10RA): c.1518G> A (p.Leu506=) single nucleotide variant Likely benign rs187556084 GRCh37 Chromosome 11, 117870137: 117870137

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

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