CYBB gene related symptoms and diseases

All the information presented here about the CYBB 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 CYBB gene

Symptoms // Phenotype % Cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Eczema Uncommon - Between 30% and 50% cases
Colitis Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Liver abscess Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Sinusitis
  • Immunodeficiency
  • Fever
  • Sepsis
  • Splenomegaly
  • Rarely - Less than 30% cases

  • Osteomyelitis
  • Intestinal obstruction
  • Glomerulonephritis

And 58 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CYBB gene

Here you will find a list of rare diseases related to the CYBB. 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

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY


Alternate names

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY Is also known as granulomatous disease, chronic, due to ncf4 deficiency, cgd, autosomal recessive cytochrome b-positive, type iii, x-linked msmd due to cybb deficiency

Description

Autosomal recessive cytochrome b-positive chronic granulomatous disease (CGD) type III is a immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation resulting from loss of phagocyte superoxide production (summary by Matute et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see the well-established X-linked recessive cytochrome b-negative form (CGD ).

Most common symptoms of X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY

  • Fever
  • Diarrhea
  • Immunodeficiency
  • Skin rash
  • Eczema


More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY

SOURCES: OMIM ORPHANET

GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX


Alternate names

GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX Is also known as cytochrome b-negative granulomatous disease, chronic, x-linked, cgd, chronic granulomatous disease, x-linked

Description

Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). Genetic Heterogeneity of Chronic Granulomatous DiseaseChronic granulomatous disease can be caused by mutations in any 1 of 5 genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also autosomal recessive cytochrome b-negative CGD (OMIM ), caused by mutation in the CYBA gene (OMIM ); autosomal recessive cytochrome b-positive CGD type I (OMIM ), caused by mutation in the NCF1 gene (OMIM ); autosomal recessive cytochrome b-positive CGD II (OMIM ), caused by mutation in the NCF2 gene (OMIM ); and autosomal recessive cytochrome b-positive CGD type III (OMIM ), caused by mutation in the NCF4 gene (OMIM ).A similar syndrome, termed neutrophil immunodeficiency syndrome (OMIM ), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (OMIM ).

Most common symptoms of GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


More info about GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX

SOURCES: OMIM

IMMUNODEFICIENCY 34; IMD34


Alternate names

IMMUNODEFICIENCY 34; IMD34 Is also known as atypical mycobacteriosis, familial, x-linked 2, amcbx2, immunodeficiency 34, mycobacteriosis, x-linked

Description

IMD34 results in predisposition to infections by poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and nontuberculous environmental bacteria. Affected individuals are also susceptible to the more virulent species Mycobacterium tuberculosis (Bustamante et al., 2007).

Most common symptoms of IMMUNODEFICIENCY 34; IMD34

  • Recurrent infections
  • Recurrent mycobacterial infections
  • Severe recurrent varicella


More info about IMMUNODEFICIENCY 34; IMD34

SOURCES: OMIM


Potential gene panels for CYBB gene

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Chronic Granulomatous Disease - CYBB Sequencing Panel

United States.

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

This panel specifically test the CYBB gene.

More info about this panel

Chronic Granulomatous Disease (CGD): CYBB (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CYBB gene.

More info about this panel

Chronic Granulomatous Disease (CGD): CYBB (Known Mutation) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CYBB gene.

More info about this panel

CYBB 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 CYBB gene.

More info about this panel

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, X-Linked (CYBB) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the CYBB gene.

More info about this panel

CYBB. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CYBB gene.

More info about this panel

Chronic granulomatous disease (sequence analysis of CYBB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYBB gene.

More info about this panel

Chronic Granulomatous Disease via CYBB Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CYBB 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

Chronic granulomatous disease, X-linked Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CYBB 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

Chronic granulomatous disease (CGD), X-linked Panel

Denmark.

By Department of Clinical Immunology Odense University Hospital

This panel specifically test the CYBB gene.

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 Mendelian Susceptibility to Mycobacterial Disease Panel Panel

United States.

By Invitae Invitae Mendelian Susceptibility to Mycobacterial Disease Panel that also includes the following genes: STAT1 STAT2 ACP5 TYK2 SAMHD1 IRAK4 ADAR CYBB ISG15 GATA2

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: CYBB gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CYBB 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

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

CYBB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CYBB gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

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 CYBB 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

CYBB 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 CYBB gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

CHRONIC GRANULOMATOUS DISEASE (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CYBB gene.

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 CYBB Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CYBB 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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