NRTN gene related symptoms and diseases
All the information presented here about the NRTN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NRTN gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Long nose | Very Common - Between 80% and 100% cases |
| Sloping forehead | Very Common - Between 80% and 100% cases |
| Aganglionic megacolon | Very Common - Between 80% and 100% cases |
| Long eyelashes | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NRTN gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Low anterior hairline
- Increased body weight
- Abnormal autonomic nervous system physiology
- Adducted thumb
- Failure to thrive in infancy
- Intestinal obstruction
- Flat occiput
- Malnutrition
And 42 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NRTN gene
Here you will find a list of rare diseases related to the NRTN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HIRSCHSPRUNG DISEASE
Alternate names
HIRSCHSPRUNG DISEASE Is also known as hscr, aganglionic megacolon, congenital intestinal aganglionosis, hirschsprung disease, megacolon, aganglionic, mgc
Description
Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
Most common symptoms of HIRSCHSPRUNG DISEASE
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
More info about HIRSCHSPRUNG DISEASE
Search interest in NRTN
Potential gene panels for NRTN gene
Hirschsprung Disease via NRTN Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the NRTN gene.
More info about this panel United States.
Hirschsprung Disease (Non-syndromic) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hirschsprung Disease (Non-syndromic) Sequencing Panel with CNV Detection that also includes the following genes: ECE1 EDN3 EDNRB GDNF NRTN RET
More info about this panel United States.
Hirschsprung disease Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NRTN gene.
More info about this panel Germany.
NRTN Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NRTN gene.
More info about this panel United States.
Hirschsprung Disease Panel Panel
Finland.
By Blueprint Genetics Hirschsprung Disease Panel that also includes the following genes: RMRP BDNF SOX10 ZEB2 KIF1BP EDN3 EDNRB CELSR3 L1CAM MITF
More info about this panel Finland.
HIRSCHSPRUNG´S DISEASE: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HIRSCHSPRUNG´S DISEASE: NGS PANEL that also includes the following genes: SEMA3A SEMA3C SEMA3D SOX10 ZEB2 KIF1BP ECE1 EDN3 EDNRB GDNF
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Non syndromic Hirschsprung Disease: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Non syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: SEMA3C SEMA3D ECE1 EDN3 EDNRB GDNF NRG1 NRG3 NRTN RET
More info about this panel Canada.
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