Details of Disease

General Information of Disease (ID: DISWPTF5)

Disease Name Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Synonyms
congenital adrenal hyperplasia type 5; adrenal hyperplasia 5; 17-Alpha-Hydroxylase deficiency; 17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial; 17,20-lyase deficiency, isolated; adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency; 17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete; 17-alpha-hydroxylase/17,20-lyase deficiency; combined 17-hydroxylase/17,20-lyase deficiency; CAH due to 17-alpha-hydroxylase deficiency
Definition A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.
Disease Hierarchy
DIS7W23Z: Reproductive system disorder
DISG873W: Congenital adrenal hyperplasia
DISWPTF5: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disease Identifiers
MONDO ID
MONDO_0008730
MESH ID
C538237
UMLS CUI
C0268285
OMIM ID
202110
MedGen ID
82782
Orphanet ID
90793
SNOMED CT ID
124220008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYB5A DE9A2LB Strong GermlineCausalMutation [1]
CYP17A1 DEX2KIA Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CYP17A1 OTZKVLVJ Strong Autosomal recessive [2]
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References

1 Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X. J Clin Endocrinol Metab. 2010 Mar;95(3):994-9. doi: 10.1210/jc.2008-1745. Epub 2010 Jan 15.
2 17alpha-hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene. J Clin Endocrinol Metab. 2005 Jul;90(7):4362-5. doi: 10.1210/jc.2005-0136. Epub 2005 Apr 5.