NCF2 gene related symptoms and diseases

All the information presented here about the NCF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NCF2 gene

Symptoms // Phenotype % Cases
Hepatomegaly Very Common - Between 80% and 100% cases
Splenomegaly Very Common - Between 80% and 100% cases
Liver abscess Very Common - Between 80% and 100% cases
Lymphadenitis Uncommon - Between 30% and 50% cases
Inflammation of the large intestine Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NCF2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Osteomyelitis
  • Cellulitis
  • Eczematoid dermatitis
  • Granulomatosis
  • Recurrent bacterial skin infections
  • Rectal abscess
  • Discoid lupus rash
  • Recurrent Staphylococcus aureus infections

And 35 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NCF2 gene

Here you will find a list of rare diseases related to the NCF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHRONIC GRANULOMATOUS DISEASE


Alternate names

CHRONIC GRANULOMATOUS DISEASE Is also known as chronic septic granulomatosis, cgd

Description

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

Most common symptoms of CHRONIC GRANULOMATOUS DISEASE

  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent respiratory infections
  • Malabsorption


More info about CHRONIC GRANULOMATOUS DISEASE

SOURCES: ORPHANET

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2


Alternate names

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2 Is also known as ncf2, deficiency of, granulomatous disease, chronic, due to ncf2 deficiency, cgd, autosomal recessive cytochrome b-positive, type ii, neutrophil cytosol factor 2, deficiency of, p67-phox, deficiency of

Most common symptoms of GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia


More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2

SOURCES: OMIM


Potential gene panels for NCF2 gene

Chronic Granulomatous Disease - NCF2 Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the NCF2 gene.

More info about this panel

Chronic granulomatous disease (sequence analysis of NCF2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NCF2 gene.

More info about this panel

Chronic Granulomatous Disease via NCF2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NCF2 gene.

More info about this panel

Chronic Granulomatous Disease Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Chronic Granulomatous Disease Sequencing Panel with CNV Detection that also includes the following genes: CYBA CYBB NCF2 NCF4

More info about this panel

Chronic granulomatous disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Chronic granulomatous disease panel that also includes the following genes: CYBA CYBB NCF1 NCF2 NCF4

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

Chronic granulomatous disease, autosomal recessive (CGD) Panel

Denmark.

By Department of Clinical Immunology Odense University Hospital Chronic granulomatous disease, autosomal recessive (CGD) that also includes the following genes: CYBA NCF1 NCF2 NCF4

More info about this panel

Invitae Monogenic Autoimmunity Panel Panel

United States.

By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2

More info about this panel

Invitae Monogenic Inflammatory Bowel Disease Panel Panel

United States.

By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA

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

Chronic granulomatous disease: NCF2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NCF2 gene.

More info about this panel

Early Onset Inflammatory Bowel Disease: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Sequencing Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6

More info about this panel

Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6

More info about this panel

NCF2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NCF2 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

Congenital Diarrhea Panel Panel

Finland.

By Blueprint Genetics Congenital Diarrhea Panel that also includes the following genes: SAR1B SI SKIV2L SLC10A2 SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3

More info about this panel

Chronic Granulomatous Disease Panel Panel

Finland.

By Blueprint Genetics Chronic Granulomatous Disease Panel that also includes the following genes: CYBA CYBB G6PD NOD2 NCF1 NCF2 NCF4

More info about this panel

Chronic Granulomatous Disease NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Chronic Granulomatous Disease NGS and Deletion/Duplication Panel that also includes the following genes: CYBA CYBB NCF1 NCF2 NCF4

More info about this panel

NCF2 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 NCF2 gene.

More info about this panel

CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) that also includes the following genes: CYBA NCF1 NCF2 NCF4

More info about this panel

CHRONIC GRANULOMATOUS DISEASE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CHRONIC GRANULOMATOUS DISEASE NGS PANEL that also includes the following genes: CYBA CYBB NCF1 NCF2 NCF4

More info about this panel

Chronic Granulomatous Disease, Sequencing NCF2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NCF2 gene.

More info about this panel

Chronic Granulomatous Disease, Panel Deletions-Duplications (MLPA) CYBA, CYBB, NCF2, NCF4 Genes Panel

Spain.

By Reference Laboratory Genetics Chronic Granulomatous Disease, Panel Deletions-Duplications (MLPA) CYBA, CYBB, NCF2, NCF4 Genes that also includes the following genes: CYBA CYBB NCF2 NCF4

More info about this panel

Chronic Granulomatous Disease, Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Chronic Granulomatous Disease, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: CYBA CYBB NCF1 NCF2 NCF4

More info about this panel

Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel

Spain.

By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9

More info about this panel


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