MCID: GRN044
MIFTS: 22

Granulomatous Disease, Chronic, Autosomal Dominant Type

Categories: Blood diseases, Bone diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Granulomatous Disease, Chronic, Autosomal Dominant Type

MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Dominant Type:

Name: Granulomatous Disease, Chronic, Autosomal Dominant Type 56
Autosomal Dominant Chronic Granulomatous Disease 12 15

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant form


HPO:

31
granulomatous disease, chronic, autosomal dominant type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070190
OMIM 56 138990
MedGen 41 C1841825
SNOMED-CT via HPO 68 263681008 443138004 44328006

Summaries for Granulomatous Disease, Chronic, Autosomal Dominant Type

Disease Ontology : 12 A chronic granulomatous disease characterized by autosomal dominant inheritance.

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Dominant Type, also known as autosomal dominant chronic granulomatous disease, is related to congenital hypothyroidism and hypothyroidism. An important gene associated with Granulomatous Disease, Chronic, Autosomal Dominant Type is DUOX2 (Dual Oxidase 2), and among its related pathways/superpathways is Amine-derived hormones. Affiliated tissues include bone and skin, and related phenotype is granulomatosis.

More information from OMIM: 138990

Related Diseases for Granulomatous Disease, Chronic, Autosomal Dominant Type

Diseases in the Chronic Granulomatous Disease family:

Granulomatous Disease, Chronic, Autosomal Dominant Type

Diseases related to Granulomatous Disease, Chronic, Autosomal Dominant Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital hypothyroidism 9.6 DUOX2 DUOX1
2 hypothyroidism 9.5 DUOX2 DUOX1
3 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 9.1 DUOX2 DUOX1 CYBA
4 granulomatous disease, chronic, x-linked 9.1 DUOX2 DUOX1 CYBA
5 chronic granulomatous disease 9.0 DUOX2 DUOX1 CYBA
6 hypertension, essential 8.8 DUOX2 DUOX1 CYBA

Graphical network of the top 20 diseases related to Granulomatous Disease, Chronic, Autosomal Dominant Type:



Diseases related to Granulomatous Disease, Chronic, Autosomal Dominant Type

Symptoms & Phenotypes for Granulomatous Disease, Chronic, Autosomal Dominant Type

Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Dominant Type:

31
# Description HPO Frequency HPO Source Accession
1 granulomatosis 31 HP:0002955

Symptoms via clinical synopsis from OMIM:

56
Immunology:
chronic granulomatous disease of childhood

Lab:
cytochrome-b-positive

Clinical features from OMIM:

138990

Drugs & Therapeutics for Granulomatous Disease, Chronic, Autosomal Dominant Type

Search Clinical Trials , NIH Clinical Center for Granulomatous Disease, Chronic, Autosomal Dominant Type

Genetic Tests for Granulomatous Disease, Chronic, Autosomal Dominant Type

Anatomical Context for Granulomatous Disease, Chronic, Autosomal Dominant Type

MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Dominant Type:

40
Bone, Skin

Publications for Granulomatous Disease, Chronic, Autosomal Dominant Type

Articles related to Granulomatous Disease, Chronic, Autosomal Dominant Type:

# Title Authors PMID Year
1
Novel CYBA mutation in a family with BCGitis. 61
31847541 2019

Variations for Granulomatous Disease, Chronic, Autosomal Dominant Type

Expression for Granulomatous Disease, Chronic, Autosomal Dominant Type

Search GEO for disease gene expression data for Granulomatous Disease, Chronic, Autosomal Dominant Type.

Pathways for Granulomatous Disease, Chronic, Autosomal Dominant Type

Pathways related to Granulomatous Disease, Chronic, Autosomal Dominant Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.23 DUOX2 DUOX1

GO Terms for Granulomatous Disease, Chronic, Autosomal Dominant Type

Cellular components related to Granulomatous Disease, Chronic, Autosomal Dominant Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell leading edge GO:0031252 9.16 DUOX2 DUOX1
2 apical plasma membrane GO:0016324 9.13 DUOX2 DUOX1 CYBA
3 NADPH oxidase complex GO:0043020 8.8 DUOX2 DUOX1 CYBA

Biological processes related to Granulomatous Disease, Chronic, Autosomal Dominant Type according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.67 DUOX2 DUOX1 CYBA
2 cytokine-mediated signaling pathway GO:0019221 9.55 DUOX2 DUOX1
3 defense response GO:0006952 9.54 DUOX2 DUOX1
4 response to oxidative stress GO:0006979 9.52 DUOX2 DUOX1
5 cellular oxidant detoxification GO:0098869 9.51 DUOX2 DUOX1
6 response to cAMP GO:0051591 9.48 DUOX2 DUOX1
7 reactive oxygen species metabolic process GO:0072593 9.46 DUOX1 CYBA
8 hydrogen peroxide catabolic process GO:0042744 9.43 DUOX2 DUOX1
9 positive regulation of wound healing GO:0090303 9.4 DUOX2 DUOX1
10 positive regulation of cell motility GO:2000147 9.37 DUOX2 DUOX1
11 thyroid hormone generation GO:0006590 9.32 DUOX2 DUOX1
12 hormone biosynthetic process GO:0042446 9.26 DUOX2 DUOX1
13 cuticle development GO:0042335 9.16 DUOX2 DUOX1
14 superoxide anion generation GO:0042554 9.13 DUOX2 DUOX1 CYBA
15 hydrogen peroxide biosynthetic process GO:0050665 8.8 DUOX2 DUOX1 CYBA

Molecular functions related to Granulomatous Disease, Chronic, Autosomal Dominant Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.5 DUOX2 DUOX1 CYBA
2 peroxidase activity GO:0004601 9.26 DUOX2 DUOX1
3 NAD(P)H oxidase activity GO:0016174 9.16 DUOX2 DUOX1
4 heme binding GO:0020037 9.13 DUOX2 DUOX1 CYBA
5 superoxide-generating NADPH oxidase activity GO:0016175 8.8 DUOX2 DUOX1 CYBA

Sources for Granulomatous Disease, Chronic, Autosomal Dominant Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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