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Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency (MONDO:0008730)

A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.

Overview

Category

reproductive system disorder

endocrine system disorder

Ontology ID

MONDO:0008730

Internal:10003

Synonyms

17-alpha-hydroxylase/17,20-lyase deficiency

CAH due to 17-alpha-hydroxylase deficiency

combined 17-hydroxylase/17,20-lyase deficiency

17,20-lyase deficiency, isolated

17-Alpha-Hydroxylase deficiency

17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete

17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial

adrenal hyperplasia 5

adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency

congenital adrenal hyperplasia type 5

Mapped terms

GARD:0001469

ICD9:277.6

MEDGEN:82782

NANDO:1200401

NANDO:2200373

OMIM:202110

Orphanet:90793

SCTID:124220008

UMLS:C0268285

icd11.foundation:587903316

Child terms

Unknown children.

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