CHRM3 gene related symptoms and diseases

All the information presented here about the CHRM3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CHRM3 gene

Symptoms // Phenotype % Cases
Scoliosis Very Common - Between 80% and 100% cases
Miosis Very Common - Between 80% and 100% cases
Cutis laxa Very Common - Between 80% and 100% cases
Abnormality of the urinary system Very Common - Between 80% and 100% cases
Bilateral cryptorchidism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CHRM3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hydroureter
  • Vertebral segmentation defect
  • Decreased fertility
  • Abnormality of the ureter
  • Xerostomia
  • Aplasia/Hypoplasia of the lungs
  • 11 pairs of ribs
  • Abnormality of the uterus

And 47 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CHRM3 gene

Here you will find a list of rare diseases related to the CHRM3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PRUNE BELLY SYNDROME


Alternate names

PRUNE BELLY SYNDROME Is also known as abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism, abdominal muscle deficiency syndrome, eagle-barret syndrome, eagle-barrett syndrome, triad syndrome, egbrs, obrinsky syndrome

Description

Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.

Most common symptoms of PRUNE BELLY SYNDROME

  • Scoliosis
  • Failure to thrive
  • Cryptorchidism
  • Cognitive impairment
  • Ventricular septal defect


More info about PRUNE BELLY SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for CHRM3 gene

Eagle-Barret syndrome (sequence analysis of CHRM3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CHRM3 gene.

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Prune belly syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CHRM3 gene.

More info about this panel

Prune belly syndrome: CHRM3 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CHRM3 gene.

More info about this panel

CHRM3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CHRM3 gene.

More info about this panel

Prune Belly Syndrome (Prenatal Diagnosis) , Sequencing CHRM3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CHRM3 gene.

More info about this panel

Prune Belly Syndrome , Sequencing CHRM3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CHRM3 gene.

More info about this panel


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