HNF4A - Gene browser

HNF4A

hepatocyte nuclear factor 4 alpha

HCNC Approved Symbol: HNF4A (HGNC:5024)
Genomic Coordinates: 20:44,355,699 - 44,434,596 (20q13.12)
Synonyms: NR2A1, HNF4, TCF14, MODY, MODY1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the HNF4A gene.

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

05
Patient count

Hypophosphatemia: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Hypophosphatemic rickets: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Abnormal blood glucose concentration: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Abnormality of blood glucose concentration: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Decreased serum bicarbonate concentration: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)