Klinische FragestellungHypertonie, juvenile extreme; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Hypertonie (juvenil extrem) mit 14 bzw. 27 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
HP4286
Anzahl Gene
25
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
32,0 kb (Core-/Core-canditate-Gene)
69,9 kb (Erweitertes Panel: inkl. additional genes)
69,9 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
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 |
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)
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
I15.2-
Bioinformatik und klinische Interpretation
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