CGD3
MCID: GRN038
MIFTS: 17

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii (CGD3) malady

Categories: Genetic diseases

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

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

Name: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 54 13
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Iii 66 29
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii 24
Granulomatous Disease, Chronic, Cytochrome-B-Positive 3, Autosomal Recessive 66
Cgd Autosomal Recessive Cytochrome B-Positive Type Iii 66
Granulomatous Disease Chronic Due to Ncf4 Deficiency 66
Cgd3 66

Characteristics:

HPO:

32
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613960
MedGen 40 C3151409
MeSH 42 D006105

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

OMIM : 54 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 : 66 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...

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

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:

32
id Description HPO Frequency HPO Source Accession
1 diarrhea 32 HP:0002014
2 recurrent aphthous stomatitis 32 HP:0011107
3 recurrent sinusitis 32 HP:0011108
4 perioral eczema 32 HP:0011127

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

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

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

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 Iii 29
2 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii 24 NCF4

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

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

39
Neutrophil

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 NCF4 p.Arg105Gln VAR_065949 rs387906808

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NCF4 NM_013416.3(NCF4): c.143_152delAAGGAGGATC (p.Lys48Thrfs) deletion Pathogenic rs876657377 GRCh37 Chromosome 22, 37260986: 37260995
2 NCF4 NM_013416.3(NCF4): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic rs387906808 GRCh37 Chromosome 22, 37263476: 37263476

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

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

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

GO Terms for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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