Granulomatous disease, chronic, autosomal recessive, 1

Preferred Label : Granulomatous disease, chronic, autosomal recessive, 1;

Symbol : CGD1;

CISMeF acronym : CDG1; CGD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : P47-phox deficiency; Soluble oxidase component II deficiency; Soc2 deficiency; Cgd, autosomal recessive cytochrome b-positive, type I; Granulomatous disease, chronic, due to ncf1 deficiency; Neutrophil cytosol factor 1 deficiency; Ncf1 deficiency; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the neutrophil cytosolic factor-1 gene, p47-phox (NCF1, 608512.0001);

Laboratory abnormalities : Presence of cytochrome b(-245); Deficiency or absence of p47-phox protein (type I); Decreased activity of NADPH oxidase; Negative nitroblue tetrazolium (NBT) reduction test;

Prefixed ID : #233700;

Details

Origin ID

233700;

UMLS CUI

C1856251;

Automatic exact mappings (from CISMeF team)
- ALG13 UDP-N-acetylglucosaminyltransferase subunit [ORDO Gene]
- NCF1 wt Allele [NCIt concept]
- symbol withdrawn CDG1 [HGNC gene]
Broader ORDO disease(s)
- Chronic granulomatous disease [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I [NCIt concept]
- autosomal recessive chronic granulomatous disease cytochrome b-positive type I [DO Concept]
- chronic granulomatous disease autosomal recessive cytochrome b-positive type I [Disease (Nov.)]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type I [MeSH Supplementary Concept]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type I [MeSH concept]
DO Cross reference
- autosomal recessive chronic granulomatous disease cytochrome b-positive type I [DO Concept]
Genes related to phenotype
- Neutrophil cytosolic factor 1 [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]
- 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)
- Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I [NCIt concept]
- chronic granulomatous disease autosomal recessive cytochrome b-positive type I [Disease (Nov.)]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type I [MeSH Supplementary Concept]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type I [MeSH concept]

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