Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-negative

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 NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.'

Clinical Features

Top most frequent phenotypes and symptoms related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-negative

  • Growth delay
  • Pain
  • Anemia
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Renal insufficiency
  • Immunodeficiency
  • Pneumonia
  • Abdominal pain

And another 31 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-negative Is also known as cgd due to deficiency of the alpha subunit of cytochrome b, cyba deficiency, cgd, autosomal recessive cytochrome b-negative.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-negative Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Chronic Granulomatous Disease - CYBA Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

CYBA
Specificity
100 %
Genes
100 %
CYBA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CYBA
Specificity
100 %
Genes
100 %
Granulomatous disease, chronic (sequence analysis of CYBA gene).

By CGC Genetics (Portugal).

CYBA
Specificity
100 %
Genes
100 %
Chronic Granulomatous Disease via CYBA Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CYBA
Specificity
100 %
Genes
100 %
Chronic Granulomatous Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CYBA, CYBB, NCF2, NCF4
Specificity
25 %
Genes
100 %
Chronic granulomatous disease panel.

By Centogene AG - the Rare Disease Company (Germany).

CYBA, CYBB, NCF1, NCF2, NCF4
Specificity
20 %
Genes
100 %
Defects of phagocytosis Panel.

By CeGaT GmbH (Germany).

STAT1, TAZ, TCIRG1, TCN2, TERT, WAS, WIPF1, ACTB, VPS45, HPS3, HPS4, HAX1, HPS5, DTNBP1, CEBPE, HPS6, SBDS, SLC35C1, BLOC1S3, VPS13B , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %

You can get up to 21 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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