ErkrankungNierenagenesie/Nieren(a)dysplasie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Nierenagenesie/ Nieren(a)dysplasie mit 7 Leitlinien-kuratierten "core"-Genen bzw. zusammen genommen 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
NP0810
Anzahl Gene
15
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
17,2 kb (Core-/Basis-Gene)
29,9 kb (Erweitertes Panel)
29,9 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 |
---|---|---|---|
DSTYK | 2790 | AD und/oder AR | |
EYA1 | 1779 | AD | |
GATA3 | 1335 | AD | |
HNF1B | 1674 | AD und/oder Sus | |
ITGA8 | 3192 | AD | |
PAX2 | 1254 | AD | |
RET | 3345 | AD und/oder Dig und/oder Sus | |
TBX18 | 1824 | AD | |
BICC1 | 2925 | AD | |
BMP4 | 1227 | AD | |
DHCR7 | 1428 | AR | |
FGF20 | 636 | AR | |
NEK8 | 2079 | AR | |
NRIP1 | 3477 | AD | |
UPK3A | 864 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Form einer Nieren(trakt)fehlbildung mit vollständigem Fehlen von 1-2 Nieren, fehlende Harnleiter
ORPHA:1848 Nierenagenesie, bilateral
ORPHA:93100 Nierenagenesie, unilaterale
Synonyme
- Alias: Extreme form of CAKUT
- Alias: Renal agenesis, kidney hypoplasia
- Allelic: Anterior segment anomalies with/-out cataract (EYA1)
- Allelic: Bone marrow failure [panelapp] (EXOC3L2)
- Allelic: Branchiootic syndrome 1 (EYA1)
- Allelic: Central hypoventilation syndrome, congenital (RET)
- Allelic: Dandy-Walker malformation [panelapp] (EXOC3L2)
- Allelic: Deafness, AD 23 (SIX1)
- Allelic: Deafness, AD 80 (GREB1L)
- Allelic: Diabetes mellitus, noninsulin-dependent (HNF1B)
- Allelic: Glomerulosclerosis, focal segmental, 7 (PAX2)
- Allelic: Hirschsprung disease, protection against + susceptibility to, 1 (RET)
- Allelic: Manitoba oculotrichoanal syndrome (FREM1)
- Allelic: Medullary thyroid carcinoma (RET)
- Allelic: Microphthalmia, syndromic 6 (BMP4)
- Allelic: Multiple endocrine neoplasia IIa + IIB (RET)
- Allelic: Nephronophthisis 9 (NEK8)
- Allelic: Orofacial cleft 11 (BMP4)
- Allelic: Otofaciocervical syndrome (EYA1)
- Allelic: Pheochromocytoma (RET)
- Allelic: Renal cell carcinoma (HNF1B)
- Allelic: Spastic paraplegia 23 (DSTYK)
- Allelic: Trigonocephaly 2 (FREM1)
- Beaulieu-Boycott-Innes/microceph., MR, distinct face, cardiac + genitourinary malfrom. s. (THOC6)
- Bifid nose with/-out anorectal + renal anomalies (FREM1)
- Branchiootic syndrome 3 (SIX1)
- Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
- Branchiootorenal syndrome 2 (SIX5)
- Congenital anomalies kidney + urinary tract syndr. +/- hear loss, abnormal ears, devel. delay (PBX1)
- Congenital anomalies of kidney + urinary tract 1 (DSTYK)
- Congenital anomalies of kidney + urinary tract 2 (TBX18)
- Congenital anomalies of kidney + urinary tract 3 (NRIP)
- Hypogonadotropic hypogonadism 1 with/-out anosmia, Kallmann syndrome 1 (ANOS1)
- Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA3)
- Microcephaly, facial dysmorphism, renal agenesis, ambiguous genitalia syndrome (CTU2)
- Multinucleated neurons, anhydramnios, renal dysplasia, cereb, hypoplasia, hydranencephaly (CEP55)
- Papillorenal syndrome (PAX2)
- Renal cysts + diabetes syndrome (HNF1B)
- Renal dysplasia + Stickler syndrome (BMP4)
- Renal dysplasia [panelapp] (EXOC3L2)
- Renal dysplasia, cystic, susceptibility to (BICC1)
- Renal hypodysplasia/aplasia 1 (ITGA8)
- Renal hypodysplasia/aplasia 2 (FGF20)
- Renal hypodysplasia/aplasia 3 (GREB1L)
- Renal-hepatic-pancreatic dysplasia 2 (NEK8)
- Smith-Lemli-Opitz syndrome (DHCR7)
- Townes-Brocks branchiootorenal-like syndrome (SALL1)
- Townes-Brocks syndrome 1, Renal-Ear-Aanal-Radial [REAR] syndrome (SALL1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder Dig und/oder Sus
- AD und/oder Sus
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q61.4
Bioinformatik und klinische Interpretation
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