Disorders


 

Corticosterone Methyloxidase Type I Deficiency


Synonym(s): Aldosterone Deficiency I, Aldosterone Synthase Deficiency, Hyperreninemic Hypoaldosteronism, Familial, 1, Steroid 18-@Hydroxylase Deficiency, Steroid 18-Hydroxylase Deficiency

 

OMIM

GeneLocusProtein
CYP11B28q21-q22Cytochrome P450 11B2

Laboratory Test Method Prenatal Carrier *
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
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.

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