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.

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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

SOURCES: OMIM ORPHANET


Potential gene panels for GINS1 gene

GINS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GINS1 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

Comprehensive Hematology Panel Panel

Finland.

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 panel

Congenital Neutropenia Panel Panel

Finland.

By Blueprint Genetics Congenital Neutropenia Panel that also includes the following genes: SMARCD2 SRP72 WAS WDR1 ACTB MRTFA VPS45 HAX1 SBDS LYST

More info about this panel


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