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

IllnessMegacystis, LUTO; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Megazystis, LUTO comprising 6 and altogether 14 curated genes according to the clinical signs

ID
MP6543
Number of genes
11 Accredited laboratory test
Examined sequence length
25,8 kb (Core-/Core-canditate-Genes)
35,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ACTG21131AD
BNC23297AD
CHRM31773AR
FLNA7920XL
MYH115919AD
MYLK5745AD
HPSE21605AR
LMOD11806AR
LRIG23198AR
MYL9522AR
MYOCD2961AD

Informations about the disease

Clinical Comment

Congenital lower urinary tract obstruction (LUTO) generally manifests as urinary bladder outflow obstruction, which may represent an anatomic blockage or a functional obstruction. Severe forms of LUTO are usually diagnosed prenatally on the basis of an overextended bladder that fails to empty when the upper urinary tract is dilated. Mild forms manifest postnatally, often with recurrent urinary tract infections. More severe forms cause oligohydramnios and are associated with dysplastic renal malformations that may occur secondarily to LUTO. LUTO is the leading cause of end-stage renal disease in children. The DNA diagnostic yield is round about 50%. Therefore, an inconspicuous molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK540960/

doi: 10.1016/j.ajhg.2019.03.023

 

Synonyms
  • Alias: Lower urinary tract obstruction, LUTO
  • Allelic: ADULT syndrome (TP63)
  • Allelic: Aortic aneurysm, familial thoracic 4 (MYH11)
  • Allelic: Aortic aneurysm, familial thoracic 6 (ACTA2)
  • Allelic: Aortic aneurysm, familial thoracic 7 (MYLK)
  • Allelic: Cardiac valvular dysplasia, XL (FLNA)
  • Allelic: Congenital short bowel syndrome (FLNA)
  • Allelic: FG syndrome 2 (FLNA)
  • Allelic: Frontometaphyseal dysplasia 1 (FLNA)
  • Allelic: Hay-Wells syndrome (TP63)
  • Allelic: Heterotopia, periventricular, 1 (FLNA)
  • Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
  • Allelic: Limb-mammary syndrome (TP63)
  • Allelic: Lung cancer susceptibility 2 (CHRNA3)
  • Allelic: Melnick-Needles syndrome (FLNA)
  • Allelic: Moyamoya disease 5 (ACTA2)
  • Allelic: Orofacial cleft 8 (TP63)
  • Allelic: Otopalatodigital syndrome, type I + II (FLNA)
  • Allelic: Rapp-Hodgkin syndrome (TP63)
  • Allelic: Split-hand/foot malformation 4 (TP63)
  • Allelic: Terminal osseous dysplasia (FLNA)
  • Bladder dysfunction, autonomic, with impaired pupillary reflex + secondary CAKUT (CHRNA3)
  • Ectrodactyly, ectodermal dysplasia + cleft lip/palate syndrome 3 (TP63)
  • Lower urinary tract obstruction, congenital (BNC2)
  • Megabladder, congenital (MYOCD)
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome (MYLK)
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MYH11)
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 (LMOD1)
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 (MYL9)
  • Multisystemic smooth muscle dysfunction syndrome (ACTA2)
  • Prune belly syndrome (CHRM3)
  • Urofacial syndrome 1 (HPSE2)
  • Urofacial syndrome 2 (LRIG2)
  • Visceral myopathy (ACTG2)
  • Visceral myopathy 2 (MYH11)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C68.8

Bioinformatics and clinical interpretation

No text defined