English
ErkrankungHypertonie, juvenile extreme; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Hypertonie (juvenil extrem) mit 14 bzw. 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
HP4286
Anzahl Gene
26
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
32,0 kb (Core-/Basis-Gene)
74,4 kb (Erweitertes Panel)
74,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| CUL3 | 2307 | AD | |
| CYP11B1 | 1512 | AD und/oder AR | |
| CYP11B2 | 1512 | AR | |
| CYP17A1 | 1527 | AR | |
| HSD11B2 | 1218 | AR | |
| KCNJ5 | 1260 | AD | |
| KLHL3 | 1764 | AD und/oder AR | |
| MTX2 | 813 | AR | |
| NR3C1 | 2334 | AD | |
| NR3C2 | 2955 | AD | |
| SCNN1B | 1923 | AD und/oder AR | |
| SCNN1G | 1950 | AD und/oder AR | |
| WNK1 | 7149 | AD und/oder AR | |
| WNK4 | 3732 | AD | |
| ABCC6 | 4512 | AD und/oder AR und/oder Dig und/oder Mult | |
| BAZ1B | 4452 | AD | |
| CACNA1H | 7062 | AD | |
| CLIP2 | 3141 | AD | |
| ELN | 2175 | AD | |
| ENPP1 | 2778 | AD und/oder AR und/oder Mult | |
| GTF2IRD1 | 2880 | AD | |
| LIMK1 | 1842 | AD | |
| NF1 | 8457 | AD und/oder SMu und/oder Sus | |
| RFC2 | 762 | AD | |
| SCNN1A | 2010 | AD und/oder AR | |
| TSHR | 2295 | AD und/oder AR |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Erkrankungen
Synonyme
- 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)
- 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)
- Pseudohypoaldosteronism type I, AD (NR3C2)
- Pseudohypoaldosteronism, type I (SCNN1A, SCNN1B, SCNN1G)
- Pseudohypoaldosteronism, type IIB (WNK4)
- Pseudohypoaldosteronism, type IID (KLHL3)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig und/oder Mult
- AD und/oder AR und/oder Mult
- AD und/oder SMu und/oder Sus
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
I15.2-
Bioinformatik und klinische Interpretation
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