MCID: CHR339
MIFTS: 13

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

Genetic diseases (common) category

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

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OMIM:46 Autosomal recessive cytochrome b-positive chronic granulomatous disease (CGD) type III is a immunodeficiency disorder... (613960) more...

MalaCards based summary: Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii, is also known as granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii, and has symptoms including autosomal recessive inheritance, diarrhea and recurrent aphthous stomatitis. An important gene associated with Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii is NCF4 (neutrophil cytosolic factor 4, 40kDa).

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

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

Name: Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii 21 23
 
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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

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

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Symptoms by clinical synopsis from OMIM:

613960

Clinical features from OMIM:

613960

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

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 diarrhea HP:0002014
3 recurrent aphthous stomatitis HP:0011107
4 recurrent sinusitis HP:0011108
5 perioral eczema HP:0011127

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

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Drug clinical trials:

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

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

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

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

id Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii21 NCF4
2 Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 323

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

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

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

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

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

63
id Symbol AA change Variation ID SNP ID
1NCF4p.Arg105GlnVAR_065949

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

7
id Gene Name Type Significance SNP ID Assembly Location
1NCF4NCF4, 10-BP DUP, NT3957duplicationPathogenic
2NCF4NM_013416.3(NCF4): c.314G> A (p.Arg105Gln)single nucleotide variantPathogenicrs387906808GRCh37Chr 22, 37263476: 37263476

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

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Expression patterns in normal tissues for genes affiliated with Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii

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

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet