FERMT3 gene related symptoms and diseases

All the information presented here about the FERMT3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FERMT3 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Recurrent bacterial infections Very Common - Between 80% and 100% cases
Abnormality of the lymph nodes Very Common - Between 80% and 100% cases
Extramedullary hematopoiesis 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 FERMT3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Osteopetrosis
  • Cellulitis
  • Petechiae
  • Leukocytosis
  • Recurrent skin infections
  • Subcutaneous nodule
  • Anemia
  • Epistaxis

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to FERMT3 gene

Here you will find a list of rare diseases related to the FERMT3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LEUKOCYTE ADHESION DEFICIENCY TYPE III


Alternate names

LEUKOCYTE ADHESION DEFICIENCY TYPE III Is also known as lad-1 variant, lad1v, leukocyte adhesion deficiency 1 variant, lad-iii, leukocyte adhesion deficiency-1 variant, iadd, leukocyte adhesion deficiency 3, integrin activation deficiency disease

Description

Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.

Most common symptoms of LEUKOCYTE ADHESION DEFICIENCY TYPE III

  • Pain
  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency


More info about LEUKOCYTE ADHESION DEFICIENCY TYPE III

SOURCES: MESH OMIM ORPHANET


Potential gene panels for FERMT3 gene

Platelet Disorders Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3

More info about this panel

FERMT3 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the FERMT3 gene.

More info about this panel

Leukocyte adhesion deficiency (sequence analysis of FERMT3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FERMT3 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis Deletion / Duplication panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK

More info about this panel

Osteopetrosis and Dense bone dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis Comprehensive panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK

More info about this panel

Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis NGS panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK

More info about this panel

Leukocyte adhesion deficiency type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FERMT3 gene.

More info about this panel

Defects of phagocytosis Panel Panel

Germany.

By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Phagocyte Defects Panel Panel

United States.

By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA

More info about this panel

Skeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia With Increased Bone Density: Sequencing Panel that also includes the following genes: TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST ANKH

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

FERMT3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FERMT3 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

FERMT3 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the FERMT3 gene.

More info about this panel

LEUKOCYTE ADHESION DEFICIENCY TYPE I Panel

Spain.

By Laboratorio de Genetica Clinica SL LEUKOCYTE ADHESION DEFICIENCY TYPE I that also includes the following genes: SLC35C1 FERMT3 ITGB2

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KCNH5 DOCK7 EEF1A2 TNNT1 MT-TH

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more