Granulomatous disease, chronic, autosomal recessive, 4

Preferred Label : Granulomatous disease, chronic, autosomal recessive, 4;

Symbol : CGD4;

CISMeF acronym : CGD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cgd, autosomal recessive cytochrome b-negative; Cyba deficiency; Cgd due to deficiency of the alpha subunit of cytochrome b; 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.';

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome b(-245) alpha subunit gene (CYBA, 608508.0001);

Laboratory abnormalities : Deficiency or absence of cytochrome b(-245); Deficiency or absence of p91-phox (300481) protein; Deficiency or absence of p22-phox protein; Negative nitroblue tetrazolium (NBT) reduction test; Decreased activity of NADPH oxidase;

Prefixed ID : #233690;

Details

Origin ID

233690;

UMLS CUI

C1856255;

Automatic exact mappings (from CISMeF team)
- CYBA wt Allele [NCIt concept]
Broader ORDO disease(s)
- Chronic granulomatous disease [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive chronic granulomatous disease cytochrome b-negative [DO Concept]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Negative [MeSH concept]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Negative [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive chronic granulomatous disease cytochrome b-negative [DO Concept]
Genes related to phenotype
- Cytochrome b(-245), alpha subunit [OMIM gene]
HPO term(s)
- Absence of bactericidal oxidative respiratory burst in phagocytes [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cellulitis [HPO term]
- Decreased activity of NADPH oxidase [HPO term]
- Deficiency or absence of cytochrome b(-245) [HPO term]
- Dermatitis, infectious, due to immunodeficiency impetigo [HPO term]
- Discoid lupus in carriers or adults with mild disease [HPO term]
- Discoid lupus rash [HPO term]
- Eczematoid dermatitis [HPO term]
- Granulomatosis [HPO term]
- Hepatomegaly [HPO term]
- Immunodeficiency [HPO term]
- Impaired oxidative burst [HPO term]
- Juvenile onset [HPO term]
- Liver abscess [HPO term]
- Lymphadenitis [HPO term]
- Lymphadenopathy [HPO term]
- Osteomyelitis [HPO term]
- Perirectal abscesses due to immunodeficiency [HPO term]
- Pneumonia due to immunodeficiency [HPO term]
- Rectal abscess [HPO term]
- Recurrent Aspergillus infections [HPO term]
- Recurrent Burkholderia cepacia infections [HPO term]
- Recurrent E. coli infections [HPO term]
- Recurrent Klebsiella infections [HPO term]
- Recurrent Serratia marcescens infections [HPO term]
- Recurrent Staphylococcus aureus infections [HPO term]
- Recurrent bacterial skin infections [HPO term]
- Recurrent pneumonia [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Chronic granulomatous disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Negative [MeSH Supplementary Concept]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Negative [MeSH concept]

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