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 androgeny manifestations resulting from steroidogenic enzyme deficiency.
Super Class
physical disorder steroid inherited metabolic disorder
External Links
Disease Ontology
DOID:0050811
Mondo Disease Ontology
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 20 of 26 in total
Gene ID Gene Symbol Description Source
2739 GLO1 glyoxalase I
2765 GML glycosylphosphatidylinositol anchored molecule like
3030 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
3283 HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
3284 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
3291 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2
3292 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1
3293 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3
3423 IDS iduronate 2-sulfatase
4051 CYP4F3 cytochrome P450 family 4 subfamily F member 3
The Human Phenotype Ontology
Displaying entries 31 - 40 of 100 in total
HPO ID HPO Term
HP:0000037 Male pseudohermaphroditism
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:0000786 Primary amenorrhea
HP:0000815 Hypergonadotropic hypogonadism
HP:0000823 Delayed puberty
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: August 19, 2024