FYB1 gene related symptoms and diseases

All the information presented here about the FYB1 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 FYB1 gene

Symptoms // Phenotype % Cases
Abnormality of the skeletal system Very Common - Between 80% and 100% cases
Thrombocytopenia Very Common - Between 80% and 100% cases
Hepatosplenomegaly Very Common - Between 80% and 100% cases
Skin rash Very Common - Between 80% and 100% cases
Abnormal bleeding Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FYB1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Epistaxis
  • Petechiae
  • Giant platelets
  • Decreased mean platelet volume
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Rare diseases associated to FYB1 gene

Here you will find a list of rare diseases related to the FYB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


THROMBOCYTOPENIA 3; THC3


Alternate names

THROMBOCYTOPENIA 3; THC3 Is also known as thrombocytopenia, autosomal recessive, 3

Description

Thrombocytopenia-3 is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by Levin et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.

Most common symptoms of THROMBOCYTOPENIA 3; THC3

  • Abnormality of the skeletal system
  • Thrombocytopenia
  • Hepatosplenomegaly
  • Skin rash
  • Abnormal bleeding


More info about THROMBOCYTOPENIA 3; THC3

SOURCES: MESH OMIM


Potential gene panels for FYB1 gene

Thrombocytopenia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5

More info about this panel

Thrombocytopenia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Deletion/Duplication Panel that also includes the following genes: CFB RUNX1 SRC TERC TERT THBD VWF WAS C3 ADAMTS13

More info about this panel

Thrombocytopenia Sequencing Panel with CNV Detection - Expanded Panel

United States.

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection - Expanded that also includes the following genes: RUNX1 WAS ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1 CD36 MASTL CYCS

More info about this panel

Thrombocytopenia NGS Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Thrombocytopenia Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Deletion / Duplication Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Thrombocytopenia Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Comprehensive Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

FYB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FYB1 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

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3

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


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