Klinische FragestellungCytochrom-P450-Erbleiden

NGS +

[Sanger]

• 17,20-lyase deficiency, isolated (CYP17A1)
• 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
• AR cataract due to abnormal sterol metabolism [panelapp] (CYP51A1)
• Adrenal hyperplasia, congenital, 21-hydroxylase deficiency (CYP21A2)
• Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (CYP11B1)
• Adrenal insufficiency, congenital, 46XY sex reversal, parti./complete (CYP11A1)
• Aldosteronism, glucocorticoid-remediable (CYP11B1)
• Aldosteronism, glucocorticoid-remediable (CYP11B2)
• Aromatase deficiency (CYP19A1)
• Bietti crystalline corneoretinal dystrophy (CYP4V2)
• Bile acid synthesis defect, congenital, 3 (CYP7B1)
• Bleeding disorder, platelet-type, 14 (CYP51A1)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Craniosynostosis, radiohumeral fusions, skeletal/craniofacial anomalies (CYP26B1)
• Ghosal haemato-diaphyseal syndrome (TBXAS1)
• Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset (CYP1B1)
• Hyperandrogenism, nonclassic type, 21-hydroxylase deficiency (CYP21A2)
• Hypercalcemia, infantile, 1 (CYP24A1)
• Hypertension, essential (PTGIS)
• Hypoaldosteronism, congenital, due to CMO I deficiency (CYP11B2)
• Hypoaldosteronism, congenital, due to CMO II deficiency (CYP11B2)
• Ichthyosis, congenital, AR 5 (CYP4F22)
• Peters anomaly (CYP1B1)
• Rickets due to defect in vitamin D 25-hydroxylation (CYP2R1)
• Spastic paraplegia 56, AR (CYP2U1)
• Spastic paraplegia 5A, AR (CYP7B1)
• Thromboxane synthase deficiency (CYP51A1)
• Vitamin D-dependent rickets, type 3 (CYP3A4)
• Vitamin D-dependent rickets, type I (CYP27B1)