Granulomatous Disease, Chronic, Autosomal Recessive, 3 (CGD3)

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Disease Ontology 12 DOID:0070194 OMIM® 57 613960 OMIM Phenotypic Series 57 PS306400

MeSH 44 D006105 MedGen 41 C3151409 SNOMED-CT via HPO 68 110426005 195788001 258211005 267060006 398870000 426965005 427617000 62315008 64226004 more

OMIM® : ⁵⁷ Autosomal recessive chronic granulomatous disease-3 (CGD3) is an immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation with onset usually in the first decade of life. Most patients present with colitis and features of inflammatory bowel disease. Other common manifestations include lupus-like skin lesions, skin granulomas, Staphylococcal abscesses, oral ulcers, and periodontitis. Patients usually do not have invasive infections and are not markedly susceptible to fungal infections. The disorder results from variable loss of phagocyte superoxide production due to NADPH oxidase dysfunction; it is generally less severe than other genetic types of CGD (summary by Matute et al., 2009; van de Geer et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; 306400). (613960) (Updated 05-Mar-2021)

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, 3, also known as granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii, is related to congenital disorder of glycosylation, type iia and phagocyte bactericidal dysfunction. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, 3 is NCF4 (Neutrophil Cytosolic Factor 4), and among its related pathways/superpathways are G-protein signaling N-RAS regulation pathway and Nur77 Signaling in T-Cell. Affiliated tissues include neutrophil, and related phenotypes are diarrhea and recurrent aphthous stomatitis

Disease Ontology : ¹² A chronic granulomatous disease characterized by that autosomal recessive inheritance has material basis in mutation in the NCF4 gene on chromosome 22q12.

UniProtKB/Swiss-Prot : ⁷³ Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive: A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.

Clinical features from OMIM®:

613960 (Updated 05-Mar-2021)

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