CREB5 gene related symptoms and diseases

All the information presented here about the CREB5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CREB5 gene

Symptoms // Phenotype % Cases
Cryptorchidism Very Common - Between 80% and 100% cases
Hydroureter Very Common - Between 80% and 100% cases
Cloacal exstrophy Very Common - Between 80% and 100% cases
Abnormality of the clitoris Very Common - Between 80% and 100% cases
Exstrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CREB5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormality of the anus
  • Bladder exstrophy
  • Macrothrombocytopenia
  • Spinal dysraphism
  • Epispadias
  • Single umbilical artery
  • Anteriorly placed anus
  • Bowel incontinence

And 14 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to CREB5 gene

Here you will find a list of rare diseases related to the CREB5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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.

Most common symptoms of EXSTROPHY OF BLADDER

  • Cryptorchidism
  • Recurrent infections
  • Inguinal hernia
  • Umbilical hernia
  • Anal atresia


More info about EXSTROPHY OF BLADDER

SOURCES: OMIM ORPHANET




If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STN1 GPHN ALDH16A1 KLK4 TRPM4

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more