NR0B1 - Gene browser

NR0B1

nuclear receptor subfamily 0 group B member 1

HCNC Approved Symbol: NR0B1 (HGNC:7960)
Genomic Coordinates: 23:30,304,206 - 30,309,390 (Xp21.2)
Synonyms: DAX1, AHCH, AHC, DSS
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the NR0B1 gene.

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

05
Patient count

Hyperpigmentation: 4 (80.0%)
Patient Count: 4 (80.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (80.0%)
Hyponatremia: 3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Hyperpigmentation of the skin: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Adrenal insufficiency: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Congenital adrenal hypoplasia: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)