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.

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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

SOURCES: ORPHANET OMIM


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

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

Hirschsprung disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NRTN gene.

More info about this panel

NRTN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NRTN gene.

More info about this panel

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

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

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

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


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