Granulomatous Disease, Chronic, X-linked; Cdgx

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 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Granulomatous Disease, Chronic, X-linked; Cdgx

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Pneumonia
  • Hepatosplenomegaly
  • Carcinoma
  • Muscular dystrophy
  • Lymphadenopathy

And another 33 symptoms. If you need more information about this disease we can help you.

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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, X-linked; Cdgx Is also known as cytochrome b-negative granulomatous disease, chronic, x-linked, cgd, chronic granulomatous disease, x-linked.

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.


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Granulomatous Disease, Chronic, X-linked; Cdgx Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
Chronic Granulomatous Disease - CYBB Sequencing.

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

CYBB
Specificity
100 %
Genes
100 %
Chronic Granulomatous Disease (CGD): CYBB (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CYBB
Specificity
100 %
Genes
100 %
Chronic Granulomatous Disease (CGD): CYBB (Known Mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CYBB
Specificity
100 %
Genes
100 %
CYBB Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CYBB
Specificity
100 %
Genes
100 %
Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion).

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

CYBB, NCF1
Specificity
50 %
Genes
100 %
Chronic Granulomatous Disease, X-Linked (CYBB) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

CYBB
Specificity
100 %
Genes
100 %
CYBB. Complete sequencing.

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

CYBB
Specificity
100 %
Genes
100 %

We have 31 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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