©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungNiere + ableitende Harnwege, kongenitale Anomalien [CAKUT]; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Niere + ableitende Harnwege, kongenitale Anomalien mit 5 bzw. zusammen genommen 59 kuratierten Genen gemäß klinischer Verdachtsdiagnose

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

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
DSTYK2790AD und/oder AR
FRAS112039AR
FREM29510AR
SALL13975AD
TBX181824AD
ACE3921AR
ACTG21131AD
AGT1458AR und/oder Mult
AGTR11080AR und/oder Mult
ANOS12043XLR
BMP41227AD
BNC23297AD
CCNQ685XLD
CEP551403AR
CHD78994AD und/oder Impr
CHRNA31518AR
CTU21776AR
DHCR71428AR
EYA11779AD
FREM16540AD und/oder AR
GATA31335AD
GLI34743AD
GPC31743XLR und/oder SMu und/oder Sus
GREB1L6329AD
GRIP13231AR
HAAO871AR
HNF1B1674AD und/oder Sus
HOXA131167AD
HPSE21605AR
ITGA83192AD
JAG13657AD und/oder AR
KDM6A4206XLD und/oder Impr
KMT2D16614AD und/oder SMu und/oder Sus und/oder Impr
KYNU924AR
LIFR3294AR
LRIG23198AR
LRP45718AD und/oder AR
MYOCD2961AD
NADSYN12142AR
NIPBL8415AD und/oder Impr
NPHP33993AR
PAX21254AD
PBX11293AD
PLVAP1335AR
REN1221AD und/oder AR
RET3345AD und/oder Dig und/oder Sus
ROBO24185AD
ROR22832AD und/oder AR
SALL43162AD
SIX52220AD
STRA62004AR
TBC1D13480AD
TFAP2A1296AD
TRAP12115AR
VPS33B1854AR
WBP111937AD
ZIC31404XLR
ZMYM24134AD

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
  • AD und/oder AR
  • AD und/oder Dig und/oder Sus
  • AD und/oder Impr
  • AD und/oder SMu und/oder Sus und/oder Impr
  • AD und/oder Sus
  • AR
  • AR und/oder Mult
  • XLD
  • XLD und/oder Impr
  • XLR
  • XLR und/oder SMu und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q63.9

Bioinformatik und klinische Interpretation

Kein Text hinterlegt