Granulomatous disease, chronic, autosomal recessive, 3

Preferred Label : Granulomatous disease, chronic, autosomal recessive, 3;

Symbol : CGD3;

CISMeF acronym : CDG3; CGD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Granulomatous disease, chronic, due to ncf4 deficiency; Cgd, autosomal recessive cytochrome b-positive, type III; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III;

Description : Autosomal recessive cytochrome b-positive chronic granulomatous disease (CGD) type III is a immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation resulting from loss of phagocyte superoxide production (summary by Matute et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see the well-established X-linked recessive cytochrome b-negative form (CGD; 306400).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the neutrophil cytosolic factor 4 gene (NCF4, 601488.0001);

Prefixed ID : #613960;

Details

Origin ID

613960;

UMLS CUI

C3151409;

Automatic exact mappings (from CISMeF team)
- autosomal recessive chronic granulomatous disease cytochrome b-positive type III [DO Concept]
DO Cross reference
- autosomal recessive chronic granulomatous disease cytochrome b-positive type III [DO Concept]
Genes related to phenotype
- Neutrophil cytosolic factor 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Colitis [HPO term]
- Diarrhea [HPO term]
- Perioral eczema [HPO term]
- Recurrent aphthous stomatitis [HPO term]
- Recurrent infections [HPO term]
- Recurrent sinusitis [HPO term]
ORDO concept(s)
- Chronic granulomatous disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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