congenital adrenal insufficiency

Summary
Synonym
  • ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
  • Adrenal insufficiency, congenital, with 46,XY sex reversal
  • P450scc DEFICIENCY
Definition
An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.
Super Class
adrenal gland disease autosomal dominant disease autosomal recessive disease physical disorder
External Links
Disease Ontology
DOID:0050546
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 52 in total
HPO ID HPO Term
HP:0000028 Cryptorchidism
HP:0000033 Ambiguous genitalia, male
HP:0000037 Male pseudohermaphroditism
HP:0000127 Renal salt wasting
HP:0000142 Abnormal vagina morphology
HP:0000144 Decreased fertility
HP:0000151 Aplasia of the uterus
HP:0000771 Gynecomastia
HP:0000823 Delayed puberty
HP:0000835 Adrenal hypoplasia
Displaying 1 entry
Gene ID Gene Symbol Description
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1

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Last updated: August 19, 2024