Bladder Exstrophy

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.

Genes related to Bladder Exstrophy

TP63
ISL1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Bladder Exstrophy

Inguinal hernia
Umbilical hernia
Vesicoureteral reflux
Intestinal malrotation
Hypoplasia of penis
Omphalocele
Recurrent urinary tract infections
Bowel incontinence
Abnormality of the ureter
Epispadias

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available BLADDER EXSTROPHY have a estimated birth prevalence of 3.05 per 100k in Europe.
— No data available about the known clinical features onset.

Alternative names

Bladder Exstrophy Is also known as classic exstrophy of the bladder.

Researches and researchers

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

Bladder Exstrophy Experts map

Current Researchs and researchers

STOCKHOLM — Pr Agneta NORDENSKJÖLD
Clinical expert - Investigator of research project
- Institution/s:
  — Karolinska Institutet - Solna
  — Karolinska Universitetssjukhuset - Solna
- Research area/topic::
  Molecular and clinical studies of bladder exstrophy and congenital adrenal hyperplasia

Bladder Exstrophy 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 50 %
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 50 %
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 Panel complete gene list SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2, B3GLCT, BCOR, CUL7, FAT4, CREBBP, FREM2, MAMLD1, CYP11A1, TMEM70, ESCO2, DHCR7, SPECC1L, WDR35, EPG5, DNMT3B, EFNB1, EVC, FGF10, FGFR1, FGFR2, FGFR3, FLNA, GLI3, GPC3, HBA1, HCCS, HOXA13, HSD3B2, IRF6, AR, MAP3K1, MID1, MKKS, NR5A1, PDE4D, PEX1, ATRX, PITX2, PTDSS1, PTPN11, RBBP8 Specificity 2 % Genes 50 %
TP63. By Institute for Human Genetics University Clinic Freiburg (Germany). TP63 Specificity 100 % Genes 50 %
TP63. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TP63 Specificity 100 % Genes 50 %
TP63. Sequencing of the exon 3. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TP63 Specificity 100 % Genes 50 %
TP63. Sequencing of the exons 13 and 14. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TP63 Specificity 100 % Genes 50 %
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 50 %