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.
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.
BLADDER EXSTROPHY
Alternate names
BLADDER EXSTROPHY Is also known as classic exstrophy of the bladder
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.
Most common symptoms of BLADDER EXSTROPHY
- Inguinal hernia
- Umbilical hernia
- Vesicoureteral reflux
- Intestinal malrotation
- Hypoplasia of penis
More info about BLADDER EXSTROPHY
SOURCES: ORPHANET
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
Search interest in ISL1
Potential gene panels for ISL1 gene
Cardiovascular Diseases_General Panel Panel
Spain.
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 Spain.
Congenital heart diseases Panel Panel
Spain.
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 Spain.
ISL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ISL1 gene.
More info about this panel United States.
FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL Panel
Spain.
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 Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PLAT COQ8A CCNF CYBA PTCHD1 KDM1A IFNGR1