Exstrophy Of Bladder

Description

Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780.Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (OMIM ). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.

Clinical Features

Top most frequent phenotypes and symptoms related to Exstrophy Of Bladder

  • Cryptorchidism
  • Recurrent infections
  • Inguinal hernia
  • Umbilical hernia
  • Anal atresia
  • Vesicoureteral reflux
  • Intestinal malrotation
  • Hypoplasia of penis
  • Omphalocele
  • Recurrent urinary tract infections

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Exstrophy Of Bladder extracted from public data.

Exstrophy Of Bladder Experts map



Current Researchs and researchers

  • MAINZ — Dr Ekkehart JENETZKY

    Investigator of research project - Manager of registry

    • Institution/s:
      — c/o Klinik und Poliklinik für Kinder- und Jugendpsychiatrie, Universitätsmedizin Mainz
    • Research area/topic::

      Risk factors for congenital anorectal malformations


  • ROMA — Pr Alberto MANTOVANI

    Investigator of research project

    • Institution/s:
      — ISS - Istituto Superiore di Sanità
    • Research area/topic::

      The bladder Extrophy-Epispadis complex and exogeous risk factors


Exstrophy Of Bladder Recommended genes panels

Panel Name, Specifity and genes Tested/covered
P63-related disorders.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

TP63
Specificity
100 %
Genes
8 %
TP63 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TP63
Specificity
100 %
Genes
8 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
8 %
TP63.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TP63
Specificity
100 %
Genes
8 %
TP63. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TP63
Specificity
100 %
Genes
8 %
TP63. Sequencing of the exon 3.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TP63
Specificity
100 %
Genes
8 %
TP63. Sequencing of the exons 13 and 14.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TP63
Specificity
100 %
Genes
8 %
TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

WNT10A, EDARADD, TP63, EDAR, EDA
Specificity
20 %
Genes
8 %

You can get up to 131 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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