congenital adrenal hyperplasia

Summary
Synonym
  • adrenal hyperplasia 1
  • congenital lipoid adrenal hyperplasia
  • lipoid CAH
Definition
A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.
Super Class
physical disorder steroid inherited metabolic disorder
Disease Ontology
DOID:0050811
Mondo Disease Ontology
UMLS
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
1584 CYP11B1 cytochrome P450 family 11 subfamily B member 1
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
1589 CYP21A2 cytochrome P450 family 21 subfamily A member 2
5447 POR cytochrome p450 oxidoreductase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P16435 NADPH--cytochrome P450 reductase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 100 in total
HPO ID HPO Term
HP:0000026 Male hypogonadism
HP:0000033 Ambiguous genitalia, male
HP:0000047 Hypospadias
HP:0000048 Bifid scrotum
HP:0000054 Micropenis
HP:0000138 Ovarian cyst
HP:0000144 Decreased fertility
HP:0000151 Aplasia of the uterus
HP:0000771 Gynecomastia
HP:0000786 Primary amenorrhea
Displaying all 4 entries
Gene ID Gene Symbol Description
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
3284 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
1584 CYP11B1 cytochrome P450 family 11 subfamily B member 1
1589 CYP21A2 cytochrome P450 family 21 subfamily A member 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025