MCID: GRN038
MIFTS: 18

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

Categories: Genetic diseases

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

MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 53 28 13
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Iii 71
Granulomatous Disease, Chronic, Cytochrome-B-Positive 3, Autosomal Recessive 71
Cgd, Autosomal Recessive Cytochrome B-Positive, Type Iii 53
Granulomatous Disease, Chronic, Due to Ncf4 Deficiency 53
Cgd Autosomal Recessive Cytochrome B-Positive Type Iii 71
Granulomatous Disease Chronic Due to Ncf4 Deficiency 71
Cdg3 53
Cgd3 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
one patient has been reported (as of may 2011)


HPO:

31
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii:
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 53 Autosomal recessive cytochrome b-positive chronic granulomatous disease (CGD) type III is a immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation resulting from loss of phagocyte superoxide production (summary by Matute et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see the well-established X-linked recessive cytochrome b-negative form (CGD; 306400). (613960)

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 : 71 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 via clinical synopsis from OMIM:

53
HeadAndNeckMouth:
perioral eczema
aphthous ulcers

AbdomenGastrointestinal:
chronic granulomatous colitis
diarrhea
perianal infections

Respiratory:
recurrent sinusitis

Immunology:
recurrent infections
neutrophils show defective intracellular nadph oxidase production


Clinical features from OMIM:

613960

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

31
# Description HPO Frequency HPO Source Accession
1 diarrhea 31 HP:0002014
2 recurrent aphthous stomatitis 31 HP:0011107
3 recurrent sinusitis 31 HP:0011108
4 perioral eczema 31 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:

# Genetic test Affiliating Genes
1 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 28 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:

38
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:

71
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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