©istock.com/Andrea Obzerova
Unsere KompetenzInterdisziplinäre Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patientinnen und Patienten.

Klinische FragestellungNiere + ableitende Harnwege, kongenitale Anomalien [CAKUT]; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Niere + ableitende Harnwege, kongenitale Anomalien mit 5 "core candidtae"-Genen bzw. zusammen genommen 78 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
CP0170
Anzahl Gene
58 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
30,2 kb (Core-/Core-canditate-Gene)
188,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
DSTYK2790NM_015375.3AD
FRAS112039NM_025074.7AR
FREM29510NM_207361.6AR
SALL13975NM_002968.3AD
TBX181824NM_001080508.3AD
ACE3921NM_000789.4AR
ACTG21131NM_001615.4AD
AGT1458NM_001382817.3AR
AGTR11080NM_000685.5AR
ANOS12043NM_000216.4XLR
BMP41227NM_001202.6AD
BNC23297NM_017637.6AD
CCNQ685NM_001130997.3XL
CEP551403NM_001127182.2AR
CHD78994NM_017780.4AD
CHRNA31518NM_000743.5AR
CTU21776NM_001012759.3AR
DHCR71428NM_001360.3AR
EYA11779NM_000503.6AD
FREM16540NM_144966.7AR
GATA31335NM_001002295.2AD
GLI34743NM_000168.6AD
GPC31743NM_004484.4XLR
GREB1L6329NM_001142966.3AD
GRIP13231NM_021150.4AR
HAAO871NM_012205.3AR
HNF1B1674NM_000458.4AD
HOXA131167NM_000522.5AD
HPSE21605NM_001166244.1AR
ITGA83192NM_003638.3AR
JAG13657NM_000214.3AD
KDM6A4206NM_021140.4XL
KMT2D16614NM_003482.4AD
KYNU924NM_001032998.2AR
LIFR3294NM_002310.6AD
LRIG23198NM_014813.3AR
LRP45718NM_002334.4AR
MYOCD2961NM_001146312.3AD, AR
NADSYN12142NM_018161.5AR
NIPBL8415NM_133433.4AD
NPHP33993NM_153240.5AR
PAX21254NM_003987.5AD
PBX11293NM_002585.4AD
PLVAP1335NM_031310.3AR
REN1221NM_000537.4AD, AR
RET3345NM_020975.6AD, AR
ROBO24185NM_001128929.3AD
ROR22832NM_004560.4AD, AR
SALL43162NM_020436.5AD
SIX52220NM_175875.5AD
STRA62004NM_001142617.2AR
TBC1D13480NM_001253912.2AD
TFAP2A1296NM_001032280.3AD
TRAP12115NM_016292.3AR
VPS33B1854NM_018668.5AR
WBP111937NM_016312.3AD
ZIC31404NM_003413.4XLR
ZMYM24134NM_001190964.4AD

Infos zur Erkrankung

Klinischer Kommentar

CAKUT umfassen ein breites Spektrum struktureller Anomalien von der vollständigen Nierenagenesie bis zur renalen Hypodysplasie, multizystische Nierendysplasie, Duplex-Nierensammelsystem, Ureter-Becken-Übergangsobstruktion, Megaureter, posteriore Urethralklappen + vesiko-ureteraler Reflux; Nierenanomalien werden bei nahen Verwandten von bis zu 10% der CAKUT-Patienten beobachtet.

 

Synonyme
  • Alias: CAKUT - Congenital Anomalies of Kidney + Urinary Tract
  • Alias: Renal or urinary tract malformation
  • Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
  • Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
  • Allelic: Bent bone dysplasia syndrome (FGFR2)
  • Allelic: Cataract 41 (WFS1)
  • Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Allelic: Craniosynostosis nonspecific (FGFR2)
  • Allelic: Crouzon syndrome (FGFR2)
  • Allelic: Cryptophthalmos, unilateral or bilateral, isolated (FREM2)
  • Allelic: Cystinosis, ocular nonnephropathic (CTNS)
  • Allelic: Deafness, AD 23 (SIX1)
  • Allelic: Deafness, AD 6/14/38 (WFS1)
  • Allelic: Diabetes mellitus, noninsulin-dependent, association with (WFS1)
  • Allelic: Gastric cancer, somatic (FGFR2)
  • Allelic: Jackson-Weiss syndrome (FGFR2)
  • Allelic: LADD syndrome (FGFR2)
  • Allelic: Lacrimo-auricolo-dento-digital syndrome (FGFR2)
  • Allelic: Microphthalmia, isolated, with coloboma 8 (STRA6)
  • Allelic: Microphthalmia, syndromic 6 (BMP4)
  • Allelic: Orofacial cleft 11 (BMP4)
  • Allelic: Pfeiffer syndrome (FGFR2)
  • Allelic: Renal cell carcinoma (HNF1B)
  • Allelic: Saethre-Chotzen syndrome (FGFR2)
  • Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
  • Allelic: Scaphocephaly with maxillary retrusion + mental retardation (FGFR2)
  • Allelic: Spastic paraplegia 23 (DSTYK)
  • Allelic: Tetralogy of Fallot (JAG1)
  • Allelic: Type 2 diabetes mellitus (HNF1B)
  • Allelic: Wilms tumor, somatic (GGPC3)
  • Acampomelic campomelic dysplasia (SOX9)
  • Alagille syndrome 1 (JAG1)
  • Alagille syndrome 2 (NOTCH2)
  • Alpha-thalassemia/mental retardation syndrome (ATRX)
  • Bardet-Biedl syndrome 1 (BBS1)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 14 (CEP290)
  • Bardet-Biedl syndrome 14, modifier of (TMEM67)
  • Bardet-Biedl syndrome 16 (SDCCAG8)
  • Bifid nose with/-out anorectal + renal anomalies (FREM1)
  • Bladder dysfunction, autonomic, with impaired pupillary reflex + secondary CAKUT (CHRNA3)
  • Branchiooculofacial syndrome (TFAP2A)
  • Branchiooculofacial syndrome (VPS33B)
  • Branchiootic syndrome 3 (SIX1)
  • Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
  • Branchiootorenal syndrome 2 (SIX5)
  • CAKUT [panelapp] (TBCD1, ZMYM2)
  • CHARGE syndrome (CHD7)
  • COACH syndrome 1 (TMEM67)
  • COACH syndrome 3 (RPGRIP1L)
  • Campomelic dysplasia (SOX9)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Cenani-Lenz syndactyly syndrome (LRP4)
  • Cong. kidney anomalies + urinary tract with/-out hearing loss, abnormal ears, developm. 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 (NRIP1)
  • Cornelia de Lange syndrome 1 (NIPBL1)
  • Cystinosis, atypical nephropathic (CTNS)
  • Cystinosis, late-onset juvenile or adolescent nephropathic (CTNS)
  • Cystinosis, nephropathic (CTNS)
  • Diabetes insipidus, nephrogenic, 2 (AQP2)
  • Diarrhea 10, protein-losing enteropathy type (PLVAP)
  • Duane-radial ray syndrome (SALL4)
  • 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)
  • Heimler syndrome 1 (PEX1)
  • Hyperoxaluria, primary, type 1 (AGTX)
  • Hypogonadotropic hypogonadism 1 with/-out anosmia; Kallmann syndrome 1 (ANOS1)
  • Hypogonadotropic hypogonadism 16 with/-out anosmia (SEMA3A)
  • Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA3)
  • IVIC syndrome (SALL4)
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24)
  • Intellectual disability-hypotonic facies syndrome, XL (ATRX)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 5 (CEP290)
  • Joubert syndrome 6 (TMEM67)
  • Joubert syndrome 7 (RPGRIP1L)
  • Kabuki syndrome 1 (KMT2D)
  • Kabuki syndrome 2 (KDM6A)
  • Leber congenital amaurosis 10 (CEP290)
  • Lower urinary tract obstruction, congenital (BNC2)
  • Manitoba oculotrichoanal syndrome (FREM1)
  • Meckel syndrome 1 (MKS1)
  • Meckel syndrome 3 (TMEM67)
  • Meckel syndrome 4 (CEP290)
  • Meckel syndrome 5 (RPGRIP1L)
  • Meckel syndrome 7 ((NPHP3)
  • Megabladder, congenital (MYOCD)
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (ACTG2)
  • Menke-Hennekam syndrome 1 (CREBBP)
  • Microcephaly, facial dysmorphism, renal agenesis + ambiguous genitalia syndrome (CTU2)
  • Microphthalmia, syndromic 9 (STRA6)
  • Multinucleated neurons, anhydramnios, renal dyspl., cerebellar hypoplasia + hydranencephaly (CEP55)
  • Nephronophthisis 11 (TMEM67)
  • Nephronophthisis 12 (TTC21B)
  • Nephronophthisis 3 (NPHP3)
  • Nephronophthisis 7 (GLIS2)
  • Nephronophthisis 9 (NEK8)
  • Neurofacioskeletal syndrome with/-out renal agenesis (HS2ST1)
  • Pallister-Hall syndrome (GLI3)
  • Papillorenal syndrome (PAX2)
  • Peroxisome biogenesis disorder 1A, Zellweger (PEX1)
  • Peroxisome biogenesis disorder 1B, NALD/IRD (PEX1)
  • Polycystic kidney disease 4, with/-out hepatic disease (PKHD1)
  • RHYNS syndrome (TMEM67)
  • Renal adysplasia [panelapp] (RET)
  • Renal cysts + diabetes syndrome (HNF1B)
  • Renal dysplasia, cystic, susceptibility to (BICC1)
  • Renal dysplasia, cystic, susceptibility to [genecards] (CDC5L)
  • Renal hypodysplasia/aplasia 1 (ITGA8)
  • Renal hypodysplasia/aplasia 2 (FGF20)
  • Renal hypodysplasia/aplasia 3 (GREB1L)
  • Renal tubular dysgenesis (ACE)
  • Renal tubular dysgenesis (AGT)
  • Renal tubular dysgenesis (AGTR1)
  • Renal tubular dysgenesis (REN)
  • Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
  • Renal-hepatic-pancreatic dysplasia 2 (NEK8)
  • Robinow syndrome, AD 1 (WNT5A)
  • Robinow syndrome, AR (ROR2)
  • Rubinstein-Taybi syndrome 1 (CREBBP)
  • STAR syndrome [toe Syndactyly, Telecanthus, Anogenital + Renal malformations] (CCNQ syn. FAM58A)
  • Senior-Loken syndrome 6 (CEP290)
  • Senior-Loken syndrome 7 (SDCCAG8)
  • Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
  • Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Stromme syndrome (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)
  • Traboulsi syndrome (ASPH)
  • Tubulointerstitial kidney disease, AD, 4 (REN)
  • Ulnar-mammary syndrome (TBX3)
  • Urofacial syndrome 1 (HPSE2)
  • Urofacial syndrome 2 (LRIG2)
  • VACTERL association, XL (ZIC3)
  • 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)
  • Wolfram syndrome 1 (WFS1)
  • Wolfram-like syndrome, AD (WFS1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

Kein Text hinterlegt