GINS1 gene related symptoms and diseases
All the information presented here about the GINS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GINS1 gene
Symptoms // Phenotype | % Cases |
---|---|
Growth delay | Very Common - Between 80% and 100% cases |
Eczema | Very Common - Between 80% and 100% cases |
Folliculitis | Very Common - Between 80% and 100% cases |
Protein-losing enteropathy | Very Common - Between 80% and 100% cases |
Osteosarcoma | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GINS1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Severe intrauterine growth retardation
- Atopic dermatitis
- Autoimmune hemolytic anemia
- Erythroderma
- Myelodysplasia
- Recurrent skin infections
- Abnormal intestine morphology
- Lymphopenia
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GINS1 gene
Here you will find a list of rare diseases related to the GINS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY
Alternate names
COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency, combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia, combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia
Description
Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).
Most common symptoms of COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY
- Growth delay
- Abnormal facial shape
- Anemia
- Intrauterine growth retardation
- Blindness
More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY
Search interest in GINS1
Potential gene panels for GINS1 gene
GINS1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GINS1 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 panelComprehensive Hematology Panel Panel
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panelCongenital Neutropenia Panel Panel
By Blueprint Genetics Congenital Neutropenia Panel that also includes the following genes: SMARCD2 SRP72 WAS WDR1 ACTB MRTFA VPS45 HAX1 SBDS LYST
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