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.
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
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).
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
Search interest in CYBB
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 United States.
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 United States.
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 Canada.
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 Canada.
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 United States.
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 United States.
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 United States.
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 Spain.
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 Portugal.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Denmark.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Spain.
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 United States.
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 United States.
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 United States.
CYBB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CYBB gene.
More info about this panel United States.
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 United States.
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 Finland.
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 Finland.
Chronic granulomatous disease Panel
Spain.
By Bioarray
This panel specifically test the CYBB gene.
More info about this panel Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 Spain.
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 Spain.
Chronic Granulomatous Disease, Sequencing CYBB Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CYBB gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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