NCF1 gene related symptoms and diseases

All the information presented here about the NCF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NCF1 gene

Symptoms // Phenotype % Cases
Hepatomegaly Very Common - Between 80% and 100% cases
Liver abscess Very Common - Between 80% and 100% cases
Splenomegaly Very Common - Between 80% and 100% cases
Rectal abscess Uncommon - Between 30% and 50% cases
Recurrent pneumonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NCF1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Recurrent skin infections
  • Osteomyelitis
  • Cellulitis
  • Eczematoid dermatitis
  • Granulomatosis
  • Recurrent bacterial skin infections
  • Discoid lupus rash
  • Recurrent Serratia marcescens infections

And 31 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NCF1 gene

Here you will find a list of rare diseases related to the NCF1. 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 I; CDG1


Alternate names

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1 Is also known as cgd, autosomal recessive cytochrome b-positive, type i, neutrophil cytosol factor 1, deficiency of, soc2, deficiency of, p47-phox, deficiency of, soluble oxidase component ii, deficiency of, ncf1, deficiency of, granulomatous disease, chronic, due to ncf1 defic

Most common symptoms of GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia
  • Lymphadenopathy


More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1

SOURCES: OMIM


Potential gene panels for NCF1 gene

Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion) Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion) that also includes the following genes: CYBB NCF1

More info about this panel

Chronic Granulomatous Disease (NCF1) Exon 2 GT Deletion Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the NCF1 gene.

More info about this panel

NCF1. Detection of homozygous mutation c.75_76delGT by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NCF1 gene.

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

Chronic granulomatous disease: NCF1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NCF1 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

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 Panel

Spain.

By Bioarray

This panel specifically test the NCF1 gene.

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

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 NCF1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NCF1 gene.

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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