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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessHypertension, juvenile extreme; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for juvenile extreme Hypertension containing 14 or 27 curated genes according to the clinical signs

ID
HP4286
Number of genes
25 Accredited laboratory test
Examined sequence length
32,0 kb (Core-/Core-canditate-Genes)
69,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CUL32307NM_003590.5AD
CYP11B11512NM_000497.4AD, AR
CYP11B21512NM_000498.3AR
CYP17A11527NM_000102.4AR
HSD11B21218NM_000196.4AR
KCNJ51260NM_000890.5AD
KLHL31764NM_017415.3AD, AR
MTX2813NM_006554.5AR
NR3C12334NM_001018077.1AD
NR3C22955NM_000901.5AD
SCNN1B1923NM_000336.3AD, AR
SCNN1G1950NM_001039.4AD, AR
WNK17149NM_018979.4AR, AD
WNK43732NM_032387.5AD
BAZ1B4452NM_032408.4AD
CACNA1H7062NM_021098.3AD
CLIP23141NM_003388.5AD
ELN2175NM_000501.4AD
ENPP12778NM_006208.3AD
GTF2IRD12880NM_016328.3AD
LIMK11842NM_002314.4AD
NF18457NM_001042492.3AD
RFC2762NM_001278791.2AD
SCNN1A2010NM_001038.6AR, AD
TSHR2295NM_000369.5AD

Informations about the disease

Clinical Comment

Group of disorders

 

Synonyms
  • Alias: Bluthochdruck, juveniler (extremer)
  • Alias: Extreme early-onset hypertension
  • Alias: Rare genetic cause of hypertension
  • Allelic: Bronchiectasis with/-out elevated sweat chloride 1 (SCNN1B)
  • Allelic: Bronchiectasis with/-out elevated sweat chloride 2 (SCNN1A)
  • Allelic: Bronchiectasis with/-out elevated sweat chloride 3 (SCNN1G)
  • Allelic: Hypoaldosteronism, congenital, due to CMO I deficiency (CYP11B2)
  • Allelic: Hypoaldosteronism, congenital, due to CMO II deficiency (CYP11B2)
  • Allelic: Long QT syndrome 13 (KCNJ5)
  • Allelic: Short-rib thoracic dysplasia 4 +/- polydactyly (TTC21B)
  • 17,20-lyase deficiency, isolated (CYP17A1)
  • 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (CYP11B1)
  • Aldosterone to renin ratio raised (CYP11B2)
  • Aldosteronism, glucocorticoid-remediable (CYP11B1)
  • Apparent mineralocorticoid excess (HSD11B2)
  • Cole disease (ENPP1)
  • Glucocorticoid resistance (NR3C1)
  • Hyperaldosteronism, familial, type III (KCNJ5)
  • Hyperparathyroidism, familial primary (CUL3)
  • Hypertension + brachydactyly syndrome (PDE3A)
  • Hypertension, early-onset, AD, with exacerbation in pregnancy (NR3C2)
  • Liddle syndrome 1 (SCNN1B)
  • Liddle syndrome 2 (SCNN1G)
  • Liddle syndrome 3 (SCNN1A)
  • Low renin hypertension, susceptibility to (CYP11B2)
  • Mandibuloacral dysplasia progeroid syndrome (MTX2)
  • Nephronophthisis 12 (TTC21B)
  • Pseudohypoaldosteronism type I, AD (NR3C2)
  • Pseudohypoaldosteronism, type I (SCNN1A, SCNN1B, SCNN1G)
  • Pseudohypoaldosteronism, type IIB (WNK4)
  • Pseudohypoaldosteronism, type IID (KLHL3)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined