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.
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
Search interest in CHRM3
Potential gene panels for CHRM3 gene
Eagle-Barret syndrome (sequence analysis of CHRM3 gene) Panel
By CGC Genetics
This panel specifically test the CHRM3 gene.
More info about this panelHereditary kidney disorders - different panels Panel
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 panelNephrology Endocrinology and Electrolytes - panels Panel
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 panelAllNeuro panel Panel
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 panelPrune belly syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CHRM3 gene.
More info about this panelPrune belly syndrome: CHRM3 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CHRM3 gene.
More info about this panelCHRM3 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CHRM3 gene.
More info about this panelPrune Belly Syndrome (Prenatal Diagnosis) , Sequencing CHRM3 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CHRM3 gene.
More info about this panelPrune Belly Syndrome , Sequencing CHRM3 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CHRM3 gene.
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