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 21 - 26 of 26 in total
Gene ID Gene Symbol Description Source
4191 MDH2 malate dehydrogenase 2
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
8630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6
9469 CHST3 carbohydrate sulfotransferase 3
55997 CFC1 cryptic, EGF-CFC family member 1
146183 OTOA otoancorin
The Human Phenotype Ontology
Displaying entries 51 - 60 of 100 in total
HPO ID HPO Term
HP:0003251 Male infertility
HP:0003394 Muscle spasm
HP:0004319 Decreased circulating aldosterone level
HP:0004349 Reduced bone mineral density
HP:0008187 Absence of secondary sex characteristics
HP:0008193 Primary gonadal insufficiency
HP:0008197 Absence of pubertal development
HP:0008207 Primary adrenal insufficiency
HP:0008214 Decreased serum estradiol
HP:0008232 Elevated circulating follicle stimulating hormone level
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