Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type Ii; Cdg2

Clinical Features

Top most frequent phenotypes and symptoms related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type Ii; Cdg2

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Respiratory tract infection
  • Lymphadenopathy
  • Recurrent pneumonia
  • Inflammation of the large intestine
  • Osteomyelitis

And another 19 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, Autosomal Recessive, Cytochrome B-positive, Type Ii; Cdg2 Is also known as ncf2, deficiency of, granulomatous disease, chronic, due to ncf2 deficiency, cgd, autosomal recessive cytochrome b-positive, type ii, neutrophil cytosol factor 2, deficiency of, p67-phox, deficiency of.

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, Autosomal Recessive, Cytochrome B-positive, Type Ii; Cdg2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Chronic Granulomatous Disease - NCF2 Sequencing.

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

NCF2
Specificity
100 %
Genes
100 %
Chronic granulomatous disease (sequence analysis of NCF2 gene).

By CGC Genetics (Portugal).

NCF2
Specificity
100 %
Genes
100 %
Chronic Granulomatous Disease via NCF2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

NCF2
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 %
Chronic granulomatous disease, autosomal recessive (CGD).

By Department of Clinical Immunology Odense University Hospital (Denmark).

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

By Invitae (United States).

RMRP, SH2D1A, SLC7A7, BTK, STAT1, STAT3, STAT5B, STIM1, STX11, STXBP2, TBX1, FAS, CD27, TNFSF12, CD40LG, FASLG, TPP2, TREX1, ACP5, UNG , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %

We have 18 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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