Klinische FragestellungHypertonie, juvenile extreme; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für juvenile extreme Hypertonie mit 14 bzw. 27 kuratierten Genen gemäß klinischer Verdachtsdiagnose

HP4286

Anzahl Gene

25 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

32,0 kb (Core-/Core-canditate-Gene)
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	603136	NM_003590.5	AD
CYP11B1	1512	610613	NM_000497.4	AD, AR
CYP11B2	1512	124080	NM_000498.3	AR
CYP17A1	1527	609300	NM_000102.4	AR
HSD11B2	1218	614232	NM_000196.4	AR
KCNJ5	1260	600734	NM_000890.5	AD
KLHL3	1764	605775	NM_017415.3	AD, AR
MTX2	813	608555	NM_006554.5	AR
NR3C1	2334	138040	NM_001018077.1	AD
NR3C2	2955	600983	NM_000901.5	AD
SCNN1B	1923	600760	NM_000336.3	AD, AR
SCNN1G	1950	600761	NM_001039.4	AD, AR
WNK1	7149	605232	NM_018979.4	AR, AD
WNK4	3732	601844	NM_032387.5	AD
BAZ1B	4452	605681	NM_032408.4	AD
CACNA1H	7062	607904	NM_021098.3	AD
CLIP2	3141	603432	NM_003388.5	AD
ELN	2175	130160	NM_000501.4	AD
ENPP1	2778	173335	NM_006208.3	AD
GTF2IRD1	2880	604318	NM_016328.3	AD
LIMK1	1842	601329	NM_002314.4	AD
NF1	8457	613113	NM_001042492.3	AD
RFC2	762	600404	NM_001278791.2	AD
SCNN1A	2010	600228	NM_001038.6	AR, AD
TSHR	2295	603372	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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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