Chronic Granulomatous Disease malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Respiratory diseases, Skin diseases, Blood diseases, Immune diseases
33LifeMap Discovery®, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 66UMLS, 69Wikipedia, 25GTR, 37MeSH, 48Novoseek, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 60SNOMED-CT
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Aliases & Descriptions for Chronic Granulomatous Disease:
Orphanet epidemiological data:52
chronic granulomatous disease:
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (United States),1-9/1000000 (Europe),1-9/1000000 (United Kingdom),1-9/1000000 (France),1-9/1000000 (Sweden),1-9/1000000 (Italy),1-9/1000000 (Denmark),1-9/1000000 (Netherlands),<1/1000000 (Australia),1-9/1000000 (Japan),1-9/1000000 (Korea, Republic of),1-9/1000000 (Latin America),1-9/1000000 (Israel); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adult,young Adult
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Gastrointestinal diseases, Respiratory diseases, Skin diseases, Blood diseases, Immune diseases
ICD10: 29 28
Rare eye diseases
Rare gastroenterological diseases
Rare respiratory diseases
Rare skin diseases
Rare immunological diseases
NIH Rare Diseases:46 Chronic granulomatous disease (cgd) is a rare, inherited immunodeficiency that affects certain white blood cells. people affected by this condition have immune systems that do not function properly, leaving the body vulnerable to chronic inflammation and frequent bacterial and fungal infections. the features of this condition usually develop in infancy or early childhood; however, milder forms may be diagnosed in the teen years or even in adulthood. it is caused by changes (mutations) in any one of five different genes and is usually inherited in an autosomal recessive or x-linked recessive manner. treatment consists of continuous therapy with antibiotic and antifungal medications to treat and prevent infections. last updated: 2/11/2015
MalaCards based summary: Chronic Granulomatous Disease, also known as cgd, is related to chronic granulomatous disease, x-linked and chronic granulomatous disease, autosomal, due to deficiency of cyba, and has symptoms including sinusitis, otitis media and cutaneous photosensitivity. An important gene associated with Chronic Granulomatous Disease is NCF4 (Neutrophil Cytosolic Factor 4), and among its related pathways are LDL Oxidation in Atherogenesis and Type II interferon signaling (IFNG). Affiliated tissues include neutrophil, bone and lung, and related mouse phenotypes are neoplasm and cardiovascular system.
Disease Ontology:11 A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
Genetics Home Reference:24 Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life.
Wikipedia:69 Chronic granulomatous disease (CGD) (also known as Bridges–Good syndrome, chronic granulomatous... more...
GeneReviews summary for NBK99496
Symptoms:52 (show all 22)
HPO human phenotypes related to Chronic Granulomatous Disease:(show all 22)
UMLS symptoms related to Chronic Granulomatous Disease:hepatomegaly
Drugs for Chronic Granulomatous Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 39)
Interventional clinical trials:(show top 50) (show all 60)
Search NIH Clinical Center for Chronic Granulomatous Disease
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Chronic Granulomatous Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Chronic Granulomatous Disease:
Embryonic/Adult Cultured Cells Related to Chronic Granulomatous Disease:
MalaCards organs/tissues related to Chronic Granulomatous Disease:34
Neutrophil, Bone, Lung, Skin, Bone marrow, Liver, Eye
MGI Mouse Phenotypes related to Chronic Granulomatous Disease:39
Articles related to Chronic Granulomatous Disease:(show top 50) (show all 812)
Clinvar genetic disease variations for Chronic Granulomatous Disease:5
Copy number variations for Chronic Granulomatous Disease from CNVD:6
Search GEO for disease gene expression data for Chronic Granulomatous Disease.
Pathways related to Chronic Granulomatous Disease according to GeneCards Suite gene sharing:(show all 34)
Cellular components related to Chronic Granulomatous Disease according to GeneCards Suite gene sharing:
Biological processes related to Chronic Granulomatous Disease according to GeneCards Suite gene sharing:(show all 29)
Molecular functions related to Chronic Granulomatous Disease according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet