Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: 3-&#64
BETA-HSD DEFICIENCY
ADRENAL HYPERPLASIA II
3-&#64
BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY
HSDB
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
Number of Symptoms 3
OrphanetNr: 90791
OMIM Id: 201810
ICD-10: E25.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 46,XX disorder of sex development induced by fetal androgens excess
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare urogenital disease
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare urogenital disease
Congenital adrenal hyperplasia
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000047) Hypospadias 250 / 7739
2
(HPO:0000037) Male pseudohermaphroditism 25 / 7739
3
(HPO:0008221) Adrenal hyperplasia 24 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Virilization is much less marked or does not occur in this type, suggesting that the gene-determined defect involves the testis as well as the adrenal. Males with the defect have hypospadias. Indeed, this form of adrenal hyperplasia can ...
Molecular genetics OMIM In 3 families with the classical severe form of 3-beta-HSD deficiency, Rheaume et al. (1992) detected 2 mutations in the HSD3B2 gene, one nonsense and the other frameshift. The nonsense mutation (W171X; 613890.0001) was found in homozygosity in ...