INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: INFLAMMATORY BOWEL DISEASE, EARLY-ONSET, AUTOSOMAL RECESSIVE
IBD28
Number of Symptoms 8
OrphanetNr:
OMIM Id: 613148
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004387) Enterocolitis 7 / 7739
2
(HPO:0002573) Hematochezia 18 / 7739
3
(HPO:0009789) Perianal abscess 4 / 7739
4
(HPO:0000999) Pyoderma 7 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Chronic folliculitis 1 / 7739
7
(OMIM) Enteric fistula 1 / 7739
8
(OMIM) Severe enterocolitis in the first year of life 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Glocker et al. (2009) reported a girl from a consanguineous Lebanese family who presented in the first year of life with severe enterocolitis associated with enteric fistulas, perianal abscesses, and chronic folliculitis, consistent with a diagnosis of Crohn ...
Molecular genetics OMIM In a consanguineous Lebanese family with early-onset severe enterocolitis, Glocker et al. (2009) analyzed the IL10RA gene and identified homozygosity for a missense mutation in the proband (146933.0001). Unaffected family members were heterozygous for the mutation, which was ...