ABCB4 - Gene browser

ABCB4

ATP binding cassette subfamily B member 4

HCNC Approved Symbol: ABCB4 (HGNC:45)
Genomic Coordinates: 7:87,365,896 - 87,476,027 (7q21.12)
Synonyms: MDR2, PFIC-3, GBD1, PGY3, MDR3
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

18Patients

In total, 18 patients were diagnosed with a variant in the ABCB4 gene.

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

018
Patient count

Jaundice: 6 (33.3%)
Patient Count: 6 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (33.3%)
Portal hypertension: 6 (33.3%)
Patient Count: 6 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (33.3%)
Splenomegaly: 5 (27.8%)
Patient Count: 5 (27.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (27.8%)
Hepatomegaly: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)
Elevated liver enzymes: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)