Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type I; Cdg1

Clinical Features

Top most frequent phenotypes and symptoms related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type I; Cdg1

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia
  • Lymphadenopathy
  • Recurrent pneumonia
  • Recurrent skin infections
  • Osteomyelitis
  • Cellulitis
  • Eczematoid dermatitis

And another 15 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 I; Cdg1 Is also known as cgd, autosomal recessive cytochrome b-positive, type i, neutrophil cytosol factor 1, deficiency of, soc2, deficiency of, p47-phox, deficiency of, soluble oxidase component ii, deficiency of, ncf1, deficiency of, granulomatous disease, chronic, due to ncf1 defic.

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 I; Cdg1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 (NCF1) Exon 2 GT Deletion.

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

NCF1
Specificity
100 %
Genes
100 %
NCF1. Detection of homozygous mutation c.75_76delGT by sequencing.

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

NCF1
Specificity
100 %
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 %
Chronic granulomatous disease: NCF1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

NCF1
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %

We have 8 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 Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A BLOOD GROUP, VEL SYSTEM; VEL GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2 3MC SYNDROME 1; 3MC1 EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM CHRONIC GRANULOMATOUS DISEASE MECKEL SYNDROME, TYPE 1; MKS1

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