Autosomal recessive early-onset inflammatory bowel disease

General Information (adopted from Orphanet):

Synonyms, Signs: Autosomal recessive early-onset IBD
Number of Symptoms 5
OrphanetNr: 238569
OMIM Id: 612567
613148
ICD-10: K52.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic intestinal disease
 -Rare genetic disease
Rare inflammatory bowel disease
 -Rare gastroenterologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000143) Rectovaginal fistula 18 / 7739
2
 (HPO:0004387) Enterocolitis 7 / 7739
3
 (HPO:0009789) Perianal abscess 4 / 7739
4
 (HPO:0005224) Rectal abscess 10 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: