Details of Disease

General Information of Disease (ID: DISBTYRN)

• Disease Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• Synonyms: steroid 11-Beta-Hydroxylase deficiency; adrenal hyperplasia, hypertensive form; adrenal hyperplasia hypertensive form; adrenal hyperplasia 4; adrenal hyperplasia IV; adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency; 11-Beta-Hydroxylase deficiency; P450C11B1 deficiency; adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency
• Definition: Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.
• Disease Hierarchy:
  DIS7W23Z: Reproductive system disorder
  DISG873W: Congenital adrenal hyperplasia
  DISBTYRN: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0008729
  MESH ID: C535978
  UMLS CUI: C0268292
  OMIM ID: 202010
  MedGen ID: 82783
  Orphanet ID: 90795
  SNOMED CT ID: 124214007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYP11B1	TTIQUX7	Strong	Genetic Variation	[1]
CYP11B2	TT9MNE2	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP11B1	DEPE0RD	Definitive	Autosomal recessive	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSD17B6	OTSB55D2	Disputed	Genetic Variation	[4]
GML	OTHKIB62	Strong	CausalMutation	[5]
CYP11B1	OTKKL894	Definitive	Autosomal recessive	[3]

References

• [1] Long-term follow-up of a female patient with non-classical 11-hydroxylase deficiency and two novel mutations in CYP11B1.Gynecol Endocrinol. 2019 Jan;35(1):23-27. doi: 10.1080/09513590.2018.1482870. Epub 2018 Jun 17.
• [2] Insights on the phenotypic heterogenity of 11-hydroxylase deficiency: clinical and genetic studies in two novel families.Endocrine. 2018 Nov;62(2):326-332. doi: 10.1007/s12020-018-1691-4. Epub 2018 Sep 21.
• [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [4] Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.Acta Biochim Pol. 2018;65(1):25-33. doi: 10.18388/abp.2017_2343. Epub 2018 Mar 15.
• [5] Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11-hydroxylase deficiency.Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):E1933-E1940. doi: 10.1073/pnas.1621082114. Epub 2017 Feb 22.