CGD4
MCID: GRN061
MIFTS: 48
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Granulomatous Disease, Chronic, Autosomal Recessive, 4 (CGD4)
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, 4:
Name: Granulomatous Disease, Chronic, Autosomal Recessive, 4
57
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset usually in first decade four types of cgd with basically identical clinical phenotypes x-linked recessive cytochrome b-negative cgd autosomal recessive cytochrome b-positive cgd, type i autosomal recessive cytochrome b-positive cgd, type ii HPO:31
granulomatous disease, chronic, autosomal recessive, 4:
Inheritance autosomal recessive inheritance Onset and clinical course juvenile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases Anatomical: Bone diseases Immune diseases Skin diseases Respiratory diseases Eye diseases Gastrointestinal diseases Blood diseases |
UniProtKB/Swiss-Prot :
73
Granulomatous disease, chronic, cytochrome-b-negative, 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.
MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, 4, also known as granulomatous disease, chronic, autosomal recessive, cytochrome b-negative, is related to rhinosporidiosis and acute dacryocystitis. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, 4 is CYBA (Cytochrome B-245 Alpha Chain), and among its related pathways/superpathways are Integrin Pathway and PAK Pathway. Affiliated tissues include liver and neutrophil, and related phenotypes are splenomegaly and hepatomegaly Disease Ontology : 12 A chronic granulomatous disease characterized by autosomal recessive inheritance that has material basis in mutation in the CYBA gene on chromosome 16q24.2. OMIM® : 57 Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.' (233690) (Updated 05-Mar-2021) |
Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:31 (show all 24)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:233690 (Updated 05-Mar-2021)MGI Mouse Phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:46
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MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:40
Liver,
Neutrophil
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Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:(show all 14)
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ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 4:6 (show top 50) (show all 94)
UniProtKB/Swiss-Prot genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 4:73 (show all 12)
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Search
GEO
for disease gene expression data for Granulomatous Disease, Chronic, Autosomal Recessive, 4.
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Pathways related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:(show all 24)
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Cellular components related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:
Biological processes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:(show all 26)
Molecular functions related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:
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