MCID: GRN038
MIFTS: 18

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii malady

Category: Genetic diseases (common)

Aliases & Classifications for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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Aliases & Descriptions for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 50 12
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Iii 68 25
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii 23
Granulomatous Disease, Chronic, Cytochrome-B-Positive 3, Autosomal Recessive 68
 
Cgd Autosomal Recessive Cytochrome B-Positive Type Iii 68
Granulomatous Disease Chronic Due to Ncf4 Deficiency 68
Cgd3 68

Characteristics:

HPO:

62
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 613960
MedGen35 C3151409
MeSH37 D006105

Summaries for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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OMIM:50 Autosomal recessive cytochrome b-positive chronic granulomatous disease (CGD) type III is a immunodeficiency disorder... (613960) more...

MalaCards based summary: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii, is also known as chronic granulomatous disease autosomal recessive cytochrome b-positive type iii, and has symptoms including diarrhea, recurrent aphthous stomatitis and recurrent sinusitis. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii is NCF4 (Neutrophil Cytosolic Factor 4). Affiliated tissues include neutrophil.

UniProtKB/Swiss-Prot:68 Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.

Related Diseases for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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Symptoms for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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Symptoms by clinical synopsis from OMIM:

613960

Clinical features from OMIM:

613960

HPO human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

id Description Frequency HPO Source Accession
1 diarrhea HP:0002014
2 recurrent aphthous stomatitis HP:0011107
3 recurrent sinusitis HP:0011108
4 perioral eczema HP:0011127

Drugs & Therapeutics for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii

Genetic Tests for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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Genetic tests related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

id Genetic test Affiliating Genes
1 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii25
2 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii23 NCF4

Anatomical Context for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

34
Neutrophil

Animal Models for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome... or affiliated genes

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Publications for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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Variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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UniProtKB/Swiss-Prot genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

68
id Symbol AA change Variation ID SNP ID
1NCF4p.Arg105GlnVAR_065949rs387906808

Clinvar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NCF4NM_013416.3(NCF4): c.143_152delAAGGAGGATC (p.Lys48Thrfs)deletionPathogenicrs876657377GRCh37Chr 22, 37260986: 37260995
2NCF4NM_013416.3(NCF4): c.314G> A (p.Arg105Gln)single nucleotide variantPathogenicrs387906808GRCh37Chr 22, 37263476: 37263476

Expression for genes affiliated with Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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Search GEO for disease gene expression data for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii.

Pathways for genes affiliated with Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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GO Terms for genes affiliated with Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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Sources for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet