Details of Disease

General Information of Disease (ID: DIS7E98M)

Disease Name Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Synonyms
3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF; adrenal hyperplasia II; type II 3-beta-hydroxysteroid dehydrogenase deficiency; adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency; 3-Beta-hydroxysteroid dehydrogenase deficiency; adrenal hyperplasia 2; 3b-hydroxysteroid dehydrogenase deficiency; HSD3B deficiency; adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency; 3-Beta-HSD deficiency; CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; 3-beta HSD deficiency
Definition
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.
Disease Hierarchy
DIS7W23Z: Reproductive system disorder
DISG873W: Congenital adrenal hyperplasia
DIS7E98M: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Disease Identifiers
MONDO ID
MONDO_0008727
MESH ID
C538236
UMLS CUI
C0342471
OMIM ID
201810
MedGen ID
452446
Orphanet ID
90791
SNOMED CT ID
54470008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MTNR1B TT32JK8 Strong Genetic Variation [1]
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This Disease Is Related to 3 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
HSD3B2 DEN0GVQ Limited Biomarker [2]
HSD17B3 DEX8J7E Strong Biomarker [3]
HSD3B2 DEN0GVQ Strong Autosomal recessive [4]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HSD3B2 OT02MSKN Strong Autosomal recessive [4]
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References

1 A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.J Clin Endocrinol Metab. 2002 Jun;87(6):2556-63. doi: 10.1210/jcem.87.6.8559.
2 Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. Chem Biol Interact. 2015 Jun 5;234:114-25.
3 No evidence of mutations in the genes for type I and type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) in nonclassical 3 beta HSD deficiency.J Clin Endocrinol Metab. 1994 Dec;79(6):1811-7. doi: 10.1210/jcem.79.6.7989489.
4 A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency. Endocr Res. 2000 Nov;26(4):761-70. doi: 10.3109/07435800009048597.