EPCAM - Gene browser

EPCAM

epithelial cell adhesion molecule

HCNC Approved Symbol: EPCAM (HGNC:11529)
Genomic Coordinates: 2:47,369,311 - 47,387,020 (2p21)
Synonyms: Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, MOC-31, 323/A3, 17-1A, TACST-1, CO-17A, ESA, BerEp4, Ber-Ep4, M4S1, MIC18, TACSTD1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the EPCAM gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

05
Patient count

Hypophosphatemia: 3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Developmental delay: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Diarrhea, chronic: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Failure to thrive in infancy: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Failure to thrive, severe: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)