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)
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
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
CUL3 | 2307 | NM_003590.5 | AD | |
CYP11B1 | 1512 | NM_000497.4 | AD, AR | |
CYP11B2 | 1512 | NM_000498.3 | AR | |
CYP17A1 | 1527 | NM_000102.4 | AR | |
HSD11B2 | 1218 | NM_000196.4 | AR | |
KCNJ5 | 1260 | NM_000890.5 | AD | |
KLHL3 | 1764 | NM_017415.3 | AD, AR | |
MTX2 | 813 | NM_006554.5 | AR | |
NR3C1 | 2334 | NM_001018077.1 | AD | |
NR3C2 | 2955 | NM_000901.5 | AD | |
SCNN1B | 1923 | NM_000336.3 | AD, AR | |
SCNN1G | 1950 | NM_001039.4 | AD, AR | |
WNK1 | 7149 | NM_018979.4 | AR, AD | |
WNK4 | 3732 | NM_032387.5 | AD | |
BAZ1B | 4452 | NM_032408.4 | AD | |
CACNA1H | 7062 | NM_021098.3 | AD | |
CLIP2 | 3141 | NM_003388.5 | AD | |
ELN | 2175 | NM_000501.4 | AD | |
ENPP1 | 2778 | NM_006208.3 | AD | |
GTF2IRD1 | 2880 | NM_016328.3 | AD | |
LIMK1 | 1842 | NM_002314.4 | AD | |
NF1 | 8457 | NM_001042492.3 | AD | |
RFC2 | 762 | NM_001278791.2 | AD | |
SCNN1A | 2010 | NM_001038.6 | AR, AD | |
TSHR | 2295 | NM_000369.5 | AD |
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