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ABCC8

ATP binding cassette subfamily C member 8

HCNC Approved Symbol
ABCC8 (HGNC:59)
Genomic Coordinates
11:17,392,498 - 17,476,845 (11p15.1)
Synonyms
HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2, SUR, HRINS
Disease Associations
This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

23Patients

In total, 23 patients were diagnosed with a variant in the ABCC8 gene.

Frequently observed phenotypes

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

Hypoglycemia
 11 (47.8%)
Hyperinsulinemia
 7 (30.4%)
Hyperinsulinemic hypoglycemia
 6 (26.1%)
Hypoglycaemia
 4 (17.4%)
Hypoglycemic seizures
 4 (17.4%)
ABCC8 - Gene browser | 3billion