Granulomatous disease, chronic, autosomal recessive, 2

Preferred Label : Granulomatous disease, chronic, autosomal recessive, 2;

Symbol : CGD2;

CISMeF acronym : CDG2; CGD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cgd, autosomal recessive cytochrome b-positive, type II; Granulomatous disease, chronic, due to ncf2 deficiency; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II; Neutrophil cytosol factor 2 deficiency; Ncf2 deficiency; P67-phox deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the neutrophil cytosolic factor-2 gene, p67-phox (NCF2, 608515.0001);

Laboratory abnormalities : Presence of cytochrome b(-245); Negative nitroblue tetrazolium (NBT) reduction test; Deficiency or absence of p67-phox protein (type II); Decreased activity of NADPH oxidase;

Prefixed ID : #233710;

Détails

Origin ID

233710;

UMLS CUI

C1856245;

Automatic exact mappings (from CISMeF team)
- TGFBI wt Allele [NCIt concept]
- autosomal recessive chronic granulomatous disease cytochrome b-positive type II [DO Concept]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type II [MeSH Supplementary Concept]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type II [MeSH concept]
Broader ORDO disease(s)
- Chronic granulomatous disease [ORDO Disease]
DO Cross reference
- autosomal recessive chronic granulomatous disease cytochrome b-positive type II [DO Concept]
Genes related to phenotype
- Neutrophil cytosolic factor 2 [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)
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type II [MeSH Supplementary Concept]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type II [MeSH concept]

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