MCID: GRN038
MIFTS: 17

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 52 12
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Iii 70 27
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii 24
Granulomatous Disease, Chronic, Cytochrome-B-Positive 3, Autosomal Recessive 70
 
Cgd Autosomal Recessive Cytochrome B-Positive Type Iii 70
Granulomatous Disease Chronic Due to Ncf4 Deficiency 70
Cgd3 70

Characteristics:

HPO:

64
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 613960
MedGen37 C3151409
MeSH39 D006105

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

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OMIM:52 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:70 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 & Phenotypes for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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Symptoms by clinical synopsis from OMIM:

613960

Clinical features from OMIM:

613960

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

 64
id Description HPO Frequency HPO Source Accession
1 diarrhea64 HP:0002014
2 recurrent aphthous stomatitis64 HP:0011107
3 recurrent sinusitis64 HP:0011108
4 perioral eczema64 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 Iii27
2 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii24 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:

36
Neutrophil

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:

70
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)SNVPathogenicrs387906808GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet