ABCC6 - Gene browser

ABCC6

ATP binding cassette subfamily C member 6

HCNC Approved Symbol: ABCC6 (HGNC:57)
Genomic Coordinates: 16:16,149,565 - 16,223,494 (16p13.11)
Synonyms: MRP6, EST349056, MLP1, URG7, ARA, PXE
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

24Patients

In total, 24 patients were diagnosed with a variant in the ABCC6 gene.

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

024
Patient count

Decreased visual acuity: 8 (33.3%)
Patient Count: 8 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
8 (33.3%)
Night blindness: 6 (25.0%)
Patient Count: 6 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (25.0%)
Wrinkled skin: 5 (20.8%)
Patient Count: 5 (20.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (20.8%)
Redundant neck skin: 4 (16.7%)
Patient Count: 4 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (16.7%)
Skin papules: 4 (16.7%)
Patient Count: 4 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (16.7%)