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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CUL32307AD
CYP11B11512AD und/oder AR
CYP11B21512AR
CYP17A11527AR
HSD11B21218AR
KCNJ51260AD
KLHL31764AD und/oder AR
MTX2813AR
NR3C12334AD
NR3C22955AD
SCNN1B1923AD und/oder AR
SCNN1G1950AD und/oder AR
WNK17149AD und/oder AR
WNK43732AD
ABCC64512AD und/oder AR und/oder Dig und/oder Mult
BAZ1B4452AD
CACNA1H7062AD
CLIP23141AD
ELN2175AD
ENPP12778AD und/oder AR und/oder Mult
GTF2IRD12880AD
LIMK11842AD
NF18457AD und/oder SMu und/oder Sus
RFC2762AD
SCNN1A2010AD und/oder AR
TSHR2295AD 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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