NR5A1 - Gene browser

NR5A1

nuclear receptor subfamily 5 group A member 1

HCNC Approved Symbol: NR5A1 (HGNC:7983)
Genomic Coordinates: 9:124,481,236 - 124,507,399 (9q33.3)
Synonyms: FTZ1, SF-1, ELP, AD4BP, hSF-1, SF1, FTZF1
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the NR5A1 gene.

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

013
Patient count

Ambiguous genitalia: 7 (53.8%)
Patient Count: 7 (53.8%)
% of total patients presenting each phenotype is shown in parentheses.
7 (53.8%)
Bifid scrotum: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Absent uterus: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Micropenis: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Clitoromegaly: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)