Congenital Diarrhea 5 With Tufting Enteropathy(Secretory diarrhea caused by mutation in EPCAM) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Gastrointestinal disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Gastrointestinal disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | EPCAM/4072 | epithelial cell adhesion molecule | 2p21 | Chr2, NC_000002.12 (47369311..47387020) |
17710 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities