Disorders

Corticosterone Methyloxidase Type II Deficiency

Synonym(s): 18-Oxidase Deficiency, Aldosterone Deficiency due to Deficiency of Steroid 18-Oxidase, Aldosterone Deficiency II, CMO II Deficiency, Familial Hyperreninemic Hypoaldosteronism 1, FHHA1B, Steroid 18-Oxidase Deficiency

OMIM

Gene	Locus	Protein
CYP11B2	8q21-q22	Cytochrome P450 11B2

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Targeted mutation analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Ruhr University, Human Genetics - Bochum, Germany
UCL Hospitals, Clinical Biochemistry Laboratory - London, Great Britain	• Analyte

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.