Granulomatous disease, chronic, X-linked

Preferred Label : Granulomatous disease, chronic, X-linked;

Symbol : CGDX;

CISMeF acronym : CDGX; CGD; CGDX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cytochrome b-negative granulomatous disease, chronic, X-linked; Chronic granulomatous disease, X-linked; CGD;

Included titles and symbols : Cytochrome b-positive granulomatous disease, chronic, X-linked; Granulomatous disease, chronic, X-linked, variant; Chronic granulomatous disease, atypical;

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 Disease Chronic 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 (233690), caused by mutation in the CYBA gene (608508); autosomal recessive cytochrome b-positive CGD type I (233700), caused by mutation in the NCF1 gene (608512); autosomal recessive cytochrome b-positive CGD II (608515), caused by mutation in the NCF2 gene (608515); and autosomal recessive cytochrome b-positive CGD type III (613960), caused by mutation in the NCF4 gene (601488). A similar syndrome, termed neutrophil immunodeficiency syndrome (608203), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (602049).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the cytochrome b(-245) beta subunit gene (CYBB, 300481.0001);

Laboratory abnormalities : Deficiency or absence of cytochrome b(-245); Deficiency or absence of p91-phox protein; Deficiency or absence of p22-phox (608508) protein; Negative nitroblue tetrazolium (NBT) reduction test; Decreased activity of NADPH oxidase;

Prefixed ID : #306400;

Details

Origin ID

306400;

UMLS CUI

C1844376;

Automatic exact mappings (from CISMeF team)
- COG7-CDG [ORDO Disease]
- CYBB wt Allele [NCIt concept]
- Chronic Granulomatous Disease [NCIt concept]
- Chronic granulomatous disease [ORDO Disease]
- DPM1-CDG [ORDO Disease]
- Gene ID (CGD) [EDAM data]
- chronic granulomatous disease [DO Concept]
- granulomatous disease, chronic [MeSH Descriptor]
Broader ORDO disease(s)
- Chronic granulomatous disease [ORDO Disease]
Currated CISMeF NLP mapping
- X-linked Chronic Granulomatous Disease [NCIt concept]
- X-linked chronic granulomatous disease [DO Concept]
- granulomatous disease, chronic, X-Linked [MeSH concept]
- x linked chronic granulomatous disease [Disease (Nov.)]
DO Cross reference
- X-linked chronic granulomatous disease [DO Concept]
Genes related to phenotype
- Cytochrome b(-245), beta subunit [OMIM gene]
HPO term(s)
- Absence of bactericidal oxidative respiratory burst in phagocytes [HPO term]
- Air bronchogram [HPO term]
- Ascites [HPO term]
- Atelectasis [HPO term]
- Cellulitis [HPO term]
- Childhood onset [HPO term]
- Cough [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]
- Fever [HPO term]
- Granuloma [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]
- Pleural effusion [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]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Chronic granulomatous disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked Chronic Granulomatous Disease [NCIt concept]
- granulomatous disease, chronic, X-Linked [MeSH concept]
- x linked chronic granulomatous disease [Disease (Nov.)]
Validated automatic mappings to NTBT
- Chronic granulomatous disease [ICD-11 More detail]

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