CGD3
MCID: GRN064
MIFTS: 36
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Granulomatous Disease, Chronic, Autosomal Recessive, 3 (CGD3)
Categories:
Blood diseases, Bone diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Respiratory diseases, Skin diseases
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MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Recessive, 3:
Name: Granulomatous Disease, Chronic, Autosomal Recessive, 3
57
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance variable phenotype onset usually in first decade invasive infections are uncommon
Inheritance:
autosomal recessive HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases Anatomical: Bone diseases Immune diseases Skin diseases Respiratory diseases Eye diseases Gastrointestinal diseases Blood diseases |
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. |
Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, 3:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:613960 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, 3:40
Neutrophil
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Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, 3:
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ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 3:6 (show top 50) (show all 88)
UniProtKB/Swiss-Prot genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 3:73
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Search
GEO
for disease gene expression data for Granulomatous Disease, Chronic, Autosomal Recessive, 3.
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Cellular components related to Granulomatous Disease, Chronic, Autosomal Recessive, 3 according to GeneCards Suite gene sharing:
Biological processes related to Granulomatous Disease, Chronic, Autosomal Recessive, 3 according to GeneCards Suite gene sharing:
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