FAH - Gene browser

FAH

fumarylacetoacetate hydrolase

HCNC Approved Symbol: FAH (HGNC:3579)
Genomic Coordinates: 15:80,152,789 - 80,186,949 (15q25.1)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the FAH gene.

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

012
Patient count

Tyrosinemia: 7 (58.3%)
Patient Count: 7 (58.3%)
% of total patients presenting each phenotype is shown in parentheses.
7 (58.3%)
Liver disease: 5 (41.7%)
Patient Count: 5 (41.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (41.7%)
Abnormality of the liver: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Failure to thrive: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Liver spots: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)