Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type Iii; Cdg3

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 ).

Clinical Features

Phenotypes and symptoms related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type Iii; Cdg3

  • Fever
  • Diarrhea
  • Skin rash
  • Eczema
  • Sinusitis
  • Colitis
  • Recurrent sinusitis
  • Recurrent aphthous stomatitis
  • Perioral eczema
  • Perianal rash

Incidence and onset information

Not enough data available about incidence and published cases.


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Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type Iii; Cdg3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Chronic Granulomatous Disease - NCF4 Sequencing.

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

NCF4
Specificity
100 %
Genes
100 %
Chronic granulomatous disease (sequence analysis of NCF4 gene).

By CGC Genetics in Portugal.

NCF4
Specificity
100 %
Genes
100 %
Chronic Granulomatous Disease via the NCF4 Gene.

By PreventionGenetics PreventionGenetics in United States.

NCF4
Specificity
100 %
Genes
100 %
Chronic Granulomatous Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

By Centogene AG - the Rare Disease Company in Germany.

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

By CeGaT GmbH in Germany.

HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Chronic granulomatous disease, autosomal recessive (CGD).

By Department of Clinical Immunology Odense University Hospital in Denmark.

CYBA, NCF2, NCF4, NCF1
Specificity
25 %
Genes
100 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Phagocyte Defects Panel.

By Invitae in United States.

SLC37A4, HAX1, TAZ, SLC35C1, CYBA, PMM2, G6PD, CYBB, WAS, VPS13B, CTSC, CSF2RA, NCF2, NCF4, FERMT3, CSF3R, ELANE, G6PC3, VPS45, GFI1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Early Onset Inflammatory Bowel Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
NCF4.

By Fulgent Genetics Fulgent Genetics in United States.

NCF4
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Chronic Granulomatous Disease Panel.

By Blueprint Genetics in Finland.

CYBA, G6PD, CYBB, NCF2, NCF4, NOD2, NCF1
Specificity
15 %
Genes
100 %
Chronic Granulomatous Disease NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CYBA, CYBB, NCF2, NCF4, NCF1
Specificity
20 %
Genes
100 %
NCF4 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

NCF4
Specificity
100 %
Genes
100 %
Chronic Granulomatous Disease, Panel Deletions-Duplications (MLPA) CYBA, CYBB, NCF2, NCF4 Genes.

By Reference Laboratory Genetics in Spain.

CYBA, CYBB, NCF2, NCF4
Specificity
25 %
Genes
100 %
Chronic Granulomatous Disease, Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

CYBA, CYBB, NCF2, NCF4, NCF1
Specificity
20 %
Genes
100 %
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes.

By Reference Laboratory Genetics in Spain.

TGFB1, CYBA, IL2RG, IKBKG, TINF2, CYBB, WAS, GATA3, FOXP1, FOXP3, DKC1, ABCB1, TERC, TERT, SH2D1A, NCF2, NCF4, WRAP53, NOD2, CD40LG , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %

Alternate names

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type Iii; Cdg3 Is also known as cgd, autosomal recessive cytochrome b-positive, type iii, granulomatous disease, chronic, due to ncf4 deficiency.



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