HSD3B7 - Gene browser | 3billion

HSD3B7

HSD3B7

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

HCNC Approved Symbol: HSD3B7 (HGNC:18324)
Genomic Coordinates: 16:30,985,207 - 30,989,147 (16p11.2)
Synonyms: C(27)-3BETA-HSD, SDR11E3
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the HSD3B7 gene.

Frequently observed phenotypes(Top 5 only)

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

03
Patient count

Cholestasis: 3 (100.0%)
Patient Count: 3 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (100.0%)
Hepatomegaly: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Abdominal pain: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Acholic stools: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)

Last updated: 2024-06-30

HSD3B7 - Gene browser | 3billion