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 1 - 10 of 26 in total
Gene ID Gene Symbol Description Source
37 ACADVL acyl-CoA dehydrogenase very long chain
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1557 CYP2C19 cytochrome P450 family 2 subfamily C member 19
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
1584 CYP11B1 cytochrome P450 family 11 subfamily B member 1
1585 CYP11B2 cytochrome P450 family 11 subfamily B member 2
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 1
1589 CYP21A2 cytochrome P450 family 21 subfamily A member 2
2271 FH fumarate hydratase
The Human Phenotype Ontology
Displaying entries 11 - 20 of 100 in total
HPO ID HPO Term
HP:0001007 Hirsutism
HP:0001061 Acne
HP:0001507 Growth abnormality
HP:0001596 Alopecia
HP:0002170 Intracranial hemorrhage
HP:0002900 Hypokalemia
HP:0003154 Increased circulating ACTH level
HP:0003351 Decreased circulating renin level
HP:0004322 Short stature
HP:0005616 Accelerated skeletal maturation
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