1. Mendelian
  2. Rare Disease Genes
  3. SEMA3D

SEMA3D gene related symptoms and diseases

All the information presented here about the SEMA3D gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to SEMA3D 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 SEMA3D 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 SEMA3D gene

Here you will find a list of rare diseases related to the SEMA3D. 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 SEMA3D gene

SEMA3D Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SEMA3D gene.

More info about this panel
United States.

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.

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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