X-linked adrenal hypoplasia congenita

Summary
Synonym
  • congenital adrenal hypoplasia
Definition
An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene.
Super Class
X-linked recessive disease adrenal cortical hypofunction
External Links
Disease Ontology
DOID:0080156
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
224 ALDH3A2 aldehyde dehydrogenase 3 family member A2
231 AKR1B1 aldo-keto reductase family 1 member B
1103 CHAT choline O-acetyltransferase
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
1584 CYP11B1 cytochrome P450 family 11 subfamily B member 1
2710 GK glycerol kinase
3383 ICAM1 intercellular adhesion molecule 1
3556 IL1RAP interleukin 1 receptor accessory protein
11141 IL1RAPL1 interleukin 1 receptor accessory protein like 1

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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