ISL1 gene related symptoms and diseases

All the information presented here about the ISL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ISL1 gene

Symptoms // Phenotype % Cases
Inguinal hernia Very Common - Between 80% and 100% cases
Bowel incontinence Very Common - Between 80% and 100% cases
Umbilical hernia Very Common - Between 80% and 100% cases
Abnormality of the clitoris Very Common - Between 80% and 100% cases
Abnormality of the anus Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ISL1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Bladder exstrophy
  • Epispadias
  • Recurrent urinary tract infections
  • Omphalocele
  • Hypoplasia of penis
  • Intestinal malrotation
  • Vesicoureteral reflux
  • Not very common - Between 30% and 50% cases

  • Cloacal exstrophy

And 15 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to ISL1 gene

Here you will find a list of rare diseases related to the ISL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

BLADDER EXSTROPHY Is also known as classic exstrophy of the bladder


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.

Most common symptoms of BLADDER EXSTROPHY

  • Inguinal hernia
  • Umbilical hernia
  • Vesicoureteral reflux
  • Intestinal malrotation
  • Hypoplasia of penis





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



Potential gene panels for ISL1 gene

Cardiovascular Diseases_General Panel Panel


By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Congenital heart diseases Panel Panel


By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2

More info about this panel

ISL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ISL1 gene.

More info about this panel



By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL that also includes the following genes: SCN5A SGCD TAZ TBX20 TBX5 TCAP TMPO TNNC1 TNNI3 TPM1

More info about this panel

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