Deutsch
IllnessHypoaldosteronism, familial
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Hypoaldosteronismus, familial
ID
HS0380
Number of genes
1
Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| CYP11B2 | 1512 | NM_000498.3 | AR |
Informations about the disease
Clinical Comment
Glucocorticoid-remediable primary aldosteronism with early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity, abnormal production of 18-oxocortisol + 18-hydroxycortisol
Synonyms
- Allelic: Aldosterone to renin ratio raised (CYP11B2)
- Allelic: Low renin hypertension, susceptibility to (CYP11B2)
- Hypoaldosteronism, congenital, due to CMO I deficiency (CYP11B2)
- Hypoaldosteronism, congenital, due to CMO II deficiency (CYP11B2)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined