NSMCE3 gene related symptoms and diseases

All the information presented here about the NSMCE3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NSMCE3 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Abnormal lung morphology Very Common - Between 80% and 100% cases
Increased sensitivity to ionizing radiation Very Common - Between 80% and 100% cases
Abnormality of the thymus Very Common - Between 80% and 100% cases
Dermal translucency Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NSMCE3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Bronchiolitis
  • Prominent superficial veins
  • Mild global developmental delay
  • Chromosome breakage
  • Emphysema
  • Failure to thrive in infancy
  • Wide anterior fontanel
  • Eczema

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NSMCE3 gene

Here you will find a list of rare diseases related to the NSMCE3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS


Description

LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Most common symptoms of LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

SOURCES: OMIM


Potential gene panels for NSMCE3 gene

NDNL2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NSMCE3 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

More info about this panel


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