ErkrankungPränatal auffällige Nieren/Urogenitalsystem, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Pränatal auffällige Nieren/Urogenitalsystem mit 13 bzw. zusammen genommen 69 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
PP0015
Anzahl Gene
65
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
41,2 kb (Core-/Basis-Gene)
206,7 kb (Erweitertes Panel)
206,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- Chorionzotten (CVS)
- Fruchtwasser (nach AC)
- Nabelschnurblut (NB)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ACE | 3921 | AR | |
ACTG2 | 1131 | AD | |
DSTYK | 2790 | AD und/oder AR | |
EYA1 | 1779 | AD | |
FREM1 | 6540 | AD und/oder AR | |
FREM2 | 9510 | AR | |
HNF1B | 1674 | AD und/oder Sus | |
PAX2 | 1254 | AD | |
REN | 1221 | AD und/oder AR | |
RET | 3345 | AD und/oder Dig und/oder Sus | |
SALL1 | 3975 | AD | |
SIX5 | 2220 | AD | |
TBX18 | 1824 | AD | |
ANOS1 | 2043 | XLR | |
BMP4 | 1227 | AD | |
BNC2 | 3297 | AD | |
CHD7 | 8994 | AD und/oder Impr | |
CHRNA3 | 1518 | AR | |
CRB2 | 3858 | AR | |
DHCR7 | 1428 | AR | |
FANCB | 2580 | XLR und/oder Sus | |
FGF20 | 636 | AR | |
FOXC2 | 1506 | AD | |
FRAS1 | 12039 | AR | |
GATA3 | 1335 | AD | |
GLI3 | 4743 | AD | |
GPC3 | 1743 | XLR und/oder SMu und/oder Sus | |
GRIP1 | 3231 | AR | |
HOXA13 | 1167 | AD | |
HPSE2 | 1605 | AR | |
ITGA8 | 3192 | AD | |
JAG1 | 3657 | AD und/oder AR | |
KDM6A | 4206 | XLD und/oder Impr | |
KYNU | 924 | AR | |
LIFR | 3294 | AR | |
LMOD1 | 1806 | AR | |
LRIG2 | 3198 | AR | |
LRP4 | 5718 | AD und/oder AR | |
MYH11 | 5919 | AD | |
MYL9 | 522 | AR | |
MYLK | 5745 | AD | |
MYOCD | 2961 | AD | |
NIPBL | 8415 | AD und/oder Impr | |
NPHP3 | 3993 | AR | |
NR0B1 | 1413 | XL | |
NRIP1 | 3477 | AD | |
PBX1 | 1293 | AD | |
PKHD1 | 12225 | AR | |
ROBO2 | 4185 | AD | |
ROR2 | 2832 | AD und/oder AR | |
RPGRIP1L | 3948 | AR | |
RRM2B | 1272 | AD und/oder AR | |
SALL4 | 3162 | AD | |
SAMD9 | 4770 | AD und/oder AR und/oder SMu | |
SLC12A1 | 3300 | AR | |
SOX17 | 1245 | AD | |
STRA6 | 2004 | AR | |
TBC1D1 | 3480 | AD | |
TFAP2A | 1296 | AD | |
TRAP1 | 2115 | AR | |
VIPAS39 | 1482 | AR | |
VPS33B | 1854 | AR | |
WNT4 | 1056 | AD und/oder AR und/oder Sus | |
WNT5A | 1143 | AD und/oder Sus | |
ZIC3 | 1404 | XLR |
Infos zur Erkrankung
Klinischer Kommentar
Angeborene Anomalien der Nieren + Harnwege sind die häufigsten sonographisch festgestellten pränatalen Fehlbildungen. Obstruktive Uropathien machen die Mehrzahl der Fälle aus. Das Ziel der pränatalen Diagnose + Behandlung ist es, jene Anomalien zu erkennen, die Einfluss auf die Prognose des betroffenen Kindes haben + frühe postnatale Auswertung/Behandlung erfordern, um nachteilige Ergebnisse zu minimieren.
Synonyme
- Alias: Congenital Anomalies of the Kidney and Urinary Tract - CAKUT
- Alias: Prenatally unusual ultrasound findings in urinary tract
- Alias: Renal or urinary tract malformation
- Allelic: Bone marrow failure [panelapp] (EXOC3L)
- Allelic: Branchiootic syndrome 3 (SIX1)
- Allelic: Dandy-Walker malformation [panelapp] (EXOC3L)
- Allelic: Deafness, AD 23 (SIX1)
- Allelic: Deafness, AD 80 (GREB1L)
- Allelic: Diabetes mellitus, noninsulin-dependent (HNF1B)
- Allelic: Diarrhea 10, protein-losing enteropathy type (PLVAP)
- Allelic: Hydroxykynureninuria (KYNU)
- Allelic: Hypertension, essential, susceptibility to (AGT)
- Allelic: Hyperuricemic nephropathy, familial juvenile 2 (REN)
- Allelic: Manitoba oculotrichoanal syndrome (FREM1)
- Allelic: Nephronophthisis 3 (NPHP3)
- Allelic: Renal cell carcinoma (HNF1B)
- Allelic:Preeclampsia, susceptibility to (AGT)
- 46XY sex reversal 2, dosage-sensitive (NR0B1)
- Adrenal hypoplasia, congenital (NR0B1)
- Alagille syndrome 1 (JAG1)
- Alagille syndrome 2 (NOTCH2)
- Arthrogryposis, renal dysfunction, + cholestasis 1 (VPS33B)
- Bartter syndrome, type 1 (SLC12A1)
- Bifid nose with/-out anorectal + renal anomalies (FREM1)
- Bladder dysfunction, autonomic, with impaired pupillary reflex + secondary CAKUT (CHRNA3)
- Branchio-oto-renal syndrome [panelapp] (SIX1)
- Branchiooculofacial syndrome (TFAP2A)
- Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
- Branchiootorenal syndrome 2 (SIX5)
- CAKUT + VACTERL association [panelapp] (TRAP1)
- CAKUT [panelapp] (EXOC3L2)
- CAKUT [panelapp] (PLVAP)
- CAKUT [panelapp] (SLIT2)
- CAKUT [panelapp] (TBC1D1)
- CAKUT syndrome with/-out hearing loss, abnormal ears/developmental delay (PBX1)
- CHARGE syndrome (CHD7)
- Cenani-Lenz syndactyly syndrome (LRP4)
- Congenital anomalies of kidney + urinary tract 1 (DSTYK)
- Congenital anomalies of kidney + urinary tract 2 (TBX18)
- Congenital anomalies of kidney + urinary tract 3 (NRIP1)
- Congenital anomalies of kidney + urinary tract with/-out hearing loss, abn. ears/dev. delay (PBX1)
- Cornelia de Lange syndrome 1 (NIPBL)
- Duane-radial ray/Okihiro/acrorenoocular syndrome (SALL4)
- Fanconi anemia, complementation group B (FANCB)
- Focal segmental glomerulosclerosis 9 (CRB2)
- Fraser syndrome 1 (FRAS1)
- Fraser syndrome 2 (FREM2)
- Fraser syndrome 3 (GRIP1)
- Glomerulosclerosis, focal segmental, 7 (PAX2)
- Guttmacher syndrome (HOXA13)
- Hajdu-Cheney syndrome (NOTCH2)
- Hand-foot-uterus syndrome (HOXA13)
- Heterotaxy, visceral, 1, XL (ZIC3)
- Hypogonadotropic hypogonadism 1 with/-out anosmia, Kallmann syndrome 1 (ANOS1)
- Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
- Hypoparathyroidism, sensorineural deafness, and renal dysplasia (GATA3)
- Joubert syndrome 7 (RPGRIP1L)
- Kabuki syndrome 1 (KMT2D)
- Kabuki syndrome 2 (KDM6A)
- Lymphedema-distichiasis syndrome with renal disease + diabetes mellitus (FOXC2)
- MIRAGE syndrome (SAMD9)
- Meckel syndrome 5 (RPGRIP1L)
- Meckel syndrome 7 (NPHP3)
- Megabladder, congenital (MYOCD)
- Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 (MYLK)
- Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MYH11)
- Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 (LMOD1)
- Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 (MYL9)
- Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (ACTG2)
- Microcephaly, facial dysmorphism, renal agenesis + ambiguous genitalia syndrome (CTU2)
- Microphthalmia, syndromic 6 (BMP4)
- Microphthalmia, syndromic 6 (BNC2)
- Microphthalmia, syndromic 9 (STRA6)
- Mitochondrial DNA depletion syndrome 8A, encephalomyopathic type with renal tubulopathy (RRM2B)
- Mullerian aplasia + hyperandrogenism (WNT4)
- Multinucleated neurons, anhydramnios, renal dysplasia, cereb. hypoplasia, hydranencephaly (CEP55)
- Nephronophthisis 2, infantile (INVS)
- Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (ZMYM2)
- Neurofacioskeletal syndrome with/-out renal agenesis (HS2ST1)
- Pallister-Hall syndrome (GLI3)
- Papillorenal syndrome (PAX2)
- Polycystic kidney disease 3 (GANAB)
- Polycystic kidney disease 4, with/-out hepatic disease (PKHD1)
- Prune belly syndrome (CHRM3)
- Renal agenesis [panelapp] (RET)
- Renal cysts + diabetes syndrome (HNF1B)
- Renal dysplasia [panelapp] (EXOC3L)
- Renal hypodysplasia/aplasia 1 (ITGA8)
- Renal hypodysplasia/aplasia 2 (FGF20)
- Renal hypodysplasia/aplasia 3 (GREB1L)
- Renal tubular dysgenesis (ACE)
- Renal tubular dysgenesis (AGTR1)
- Renal tubular dysgenesis (REN)
- Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
- Robinow syndrome, AD 1 (WNT5A)
- Robinow syndrome, AR (ROR2)
- SERKAL syndrome (WNT4)
- Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
- Smith-Lemli-Opitz syndrome (DHCR7)
- Stromme syndrome: intestinal atresia, ocular +/- renal/cardiac abnormalities, microcephaly (CENPF)
- Structural heart defects + renal anomalies syndrome (TMEM260)
- Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome (LIFR)
- Townes-Brocks branchiootorenal-like syndrome (SALL1)
- Townes-Brocks syndrome 1 (SALL1)
- Tubulointerstitial kidney disease, AD, 4 (REN)
- Urofacial syndrome 1 (HPSE2)
- Urofacial syndrome 2 (LRIG2)
- VACTERL association, XL (ZIC3)
- Ventriculomegaly with cystic kidney disease (CRB2)
- Vertebral, cardiac, renal + limb defects syndrome 1 (HAAO)
- Vertebral, cardiac, renal + limb defects syndrome 2 (KYNU)
- Vertebral, cardiac, renal + limb defects syndrome 3 (NADSYN1)
- Vertebral, cardiac, tracheoesophageal, renal + limb defects (WBP11)
- Vesicoureteral reflux 2 (ROBO2)
- Vesicoureteral reflux 3 (SOX17)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu
- AD und/oder AR und/oder Sus
- AD und/oder Dig und/oder Sus
- AD und/oder Impr
- AD und/oder Sus
- AR
- XL
- XLD und/oder Impr
- XLR
- XLR und/oder SMu und/oder Sus
- XLR und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q60.-
Bioinformatik und klinische Interpretation
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