ARPC1B gene related symptoms and diseases

All the information presented here about the ARPC1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ARPC1B gene

Symptoms // Phenotype % Cases
Failure to thrive Very Common - Between 80% and 100% cases
Inflammation of the large intestine Very Common - Between 80% and 100% cases
Decreased mean platelet volume Very Common - Between 80% and 100% cases
Lymphocytosis Very Common - Between 80% and 100% cases
Abnormal thrombocyte morphology Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ARPC1B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Immune dysregulation
  • Antinuclear antibody positivity
  • Elevated erythrocyte sedimentation rate
  • Eosinophilia
  • Immunodeficiency
  • Vasculitis
  • Asthma
  • Lymphadenopathy

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ARPC1B gene

Here you will find a list of rare diseases related to the ARPC1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID


Description

PLTEID is an autosomal recessive immune-mediated inflammatory disease with highly variable manifestations. More severely affected individuals have recurrent infections, vasculitis, and thrombocytopenia, whereas other patients have mild vasculitis and normal numbers of small platelets without severe infections. Laboratory studies show platelets with abnormal shape, decreased dense granules, and impaired spreading ability, as well as immune dysregulation with increased eosinophils, B cells, IgA and IgE, and autoantibodies (summary by Kahr et al., 2017).

Most common symptoms of PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Pneumonia


More info about PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID

SOURCES: OMIM


Potential gene panels for ARPC1B gene

ARPC1B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ARPC1B gene.

More info about this panel

Thrombocytopenia Panel Panel

Finland.

By Blueprint Genetics Thrombocytopenia Panel that also includes the following genes: RUNX1 SRC THBD WAS WIPF1 ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1

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

Platelet Function Disorder Panel Panel

Finland.

By Blueprint Genetics Platelet Function Disorder Panel that also includes the following genes: RUNX1 TBXA2R THPO WIPF1 HPS3 HPS4 HPS5 DTNBP1 P2RY12 HPS6

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

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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