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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessRenal agenesis/dysplasia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Renal agenesis/dysplasia comprising 7 guideline-curated core genes and altogether 26 curated genes according to the clinical signs

ID
NP0810
Number of genes
15 Accredited laboratory test
Examined sequence length
17,2 kb (Core-/Core-canditate-Genes)
29,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
DSTYK2790AD
EYA11779AD
GATA31335AD
HNF1B1674AD
ITGA83192AD
PAX21254AD
RET3345AD
TBX181824AD
BICC12925AD
BMP41227AD
DHCR71428AR
FGF20636AR
NEK82079AR
NRIP13477AD
UPK3A864XLR

Informations about the disease

Clinical Comment

Form of renal tract malformation with complete absence of development of 1-2 kidneys accompanied by absent ureter(s)

ORPHA:1848 Nierenagenesie, bilaterale ORPHA:93100 Nierenagenesie, unilaterale

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q61.4

Bioinformatics and clinical interpretation

No text defined