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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)
Analyse-Dauer
auf Anfrage
Material
  • Chorionzotten (CVS)
  • Fruchtwasser (nach AC)
  • Nabelschnurblut (NB)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACE3921AR
ACTG21131AD
DSTYK2790AD und/oder AR
EYA11779AD
FREM16540AD und/oder AR
FREM29510AR
HNF1B1674AD und/oder Sus
PAX21254AD
REN1221AD und/oder AR
RET3345AD und/oder Dig und/oder Sus
SALL13975AD
SIX52220AD
TBX181824AD
ANOS12043XLR
BMP41227AD
BNC23297AD
CHD78994AD und/oder Impr
CHRNA31518AR
CRB23858AR
DHCR71428AR
FANCB2580XLR und/oder Sus
FGF20636AR
FOXC21506AD
FRAS112039AR
GATA31335AD
GLI34743AD
GPC31743XLR und/oder SMu und/oder Sus
GRIP13231AR
HOXA131167AD
HPSE21605AR
ITGA83192AD
JAG13657AD und/oder AR
KDM6A4206XLD und/oder Impr
KYNU924AR
LIFR3294AR
LMOD11806AR
LRIG23198AR
LRP45718AD und/oder AR
MYH115919AD
MYL9522AR
MYLK5745AD
MYOCD2961AD
NIPBL8415AD und/oder Impr
NPHP33993AR
NR0B11413XL
NRIP13477AD
PBX11293AD
PKHD112225AR
ROBO24185AD
ROR22832AD und/oder AR
RPGRIP1L3948AR
RRM2B1272AD und/oder AR
SALL43162AD
SAMD94770AD und/oder AR und/oder SMu
SLC12A13300AR
SOX171245AD
STRA62004AR
TBC1D13480AD
TFAP2A1296AD
TRAP12115AR
VIPAS391482AR
VPS33B1854AR
WNT41056AD und/oder AR und/oder Sus
WNT5A1143AD und/oder Sus
ZIC31404XLR

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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