HSD3B2 - Gene browser

HSD3B2

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

HCNC Approved Symbol: HSD3B2 (HGNC:5218)
Genomic Coordinates: 1:119,414,931 - 119,423,034 (1p12)
Synonyms: SDR11E2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the HSD3B2 gene.

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

03
Patient count

Hyperkalemia: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Hyponatremia: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Acth deficiency: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Ambiguous genitalia, female: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Congenital adrenal hyperplasia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)