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.
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
Search interest in NSMCE3
Potential gene panels for NSMCE3 gene
NDNL2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NSMCE3 gene.
More info about this panelPrimary Immunodeficiency Panel Panel
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 panelSevere Combined Immunodeficiency Panel Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NARS2 ZNF711 LPAR6 ABAT SNORD118 STAT2 BICRA