corticosterone methyloxidase deficiency 1

Summary
Synonym
  • aldosterone synthase deficiency
Definition
An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life.
Super Class
adrenal gland disease autosomal recessive disease
External Links
Disease Ontology
DOID:0080626
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1585 CYP11B2 cytochrome P450 family 11 subfamily B member 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 14 in total
HPO ID HPO Term
HP:0002013 Vomiting
HP:0001508 Failure to thrive
HP:0003623 Neonatal onset
HP:0000127 Renal salt wasting
HP:0002615 Hypotension
HP:0008872 Feeding difficulties in infancy
HP:0001944 Dehydration
HP:0000007 Autosomal recessive inheritance
HP:0001954 Recurrent fever
HP:0002902 Hyponatremia
Displaying 1 entry
Gene ID Gene Symbol Description
1585 CYP11B2 cytochrome P450 family 11 subfamily B 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