ARBD
MCID: ALC001
MIFTS: 25

Alcohol-Related Birth Defect (ARBD) malady

Summaries for Alcohol-Related Birth Defect

Sources:
8Disease Ontology, 33MalaCards
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Disease Ontology:8 A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.

MalaCards: Alcohol-Related Birth Defect, also known as alcohol related birth defect, is related to fetal alcohol syndrome and alcohol dependence. An important gene associated with Alcohol-Related Birth Defect is EN2 (engrailed homeobox 2), and among its related pathways are acetone degradation I (to methylglyoxal) and ethanol degradation II. The compounds Fomepizole and n-benzylformamide have been mentioned in the context of this disorder. Related mouse phenotypes are embryogenesis and craniofacial.

Aliases & Classifications for Alcohol-Related Birth Defect

Sources:
8Disease Ontology, 61UMLS
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Aliases & Descriptions:

alcohol-related birth defect 8
alcohol related birth defect 61
arbd 8


External Ids:

Disease Ontology8 DOID:0050668

Related Diseases for Alcohol-Related Birth Defect

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Alcohol-Related Birth Defect via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1fetal alcohol syndrome10.2
2alcohol dependence10.0ADH1B, ADH6
3esophageal cancer10.0ADH1B, CYP2E1
4fetal alcohol spectrum disorder10.0ADH1B, AKR1A1
5alcoholic pancreatitis10.0ADH1B, CYP2E1, AKR1A1
6alcoholic liver cirrhosis10.0AKR1A1, CYP2E1, ADH1B
7pancreatitis, chronic10.0ADH1B, CYP2E1, AKR1A1
8galactosemia10.0ADH1B, CYP2E1, AKR1A1
9liver cirrhosis10.0AKR1A1, CYP2E1, ADH1B

Graphical network of diseases related to Alcohol-Related Birth Defect:



Diseases related to alcohol-related birth defect

Clinical Features for Alcohol-Related Birth Defect

Drugs & Therapeutics for Alcohol-Related Birth Defect

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Alcohol-Related Birth Defect

Drug clinical trials:

Search ClinicalTrials for Alcohol-Related Birth Defect

Search NIH Clinical Center for Alcohol-Related Birth Defect

Search CenterWatch for Alcohol-Related Birth Defect

Genetic Tests for Alcohol-Related Birth Defect

Anatomical Context for Alcohol-Related Birth Defect

Animal Models for Alcohol-Related Birth Defect or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Alcohol-Related Birth Defect

Sources:
51PubMed
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Articles related to Alcohol-Related Birth Defect:

idTitleAuthorsYear
1
ADH2 and CYP2E1 genetic polymorphisms: risk factors for alcohol-related birth defects. (11259352)
2001
2
A multiple-level, comprehensive approach to the prevention of fetal alcohol syndrome (FAS) and other alcohol-related birth defects (ARBD). (8557409)
1995

Genetic Variations for Alcohol-Related Birth Defect

Expression for genes affiliated with Alcohol-Related Birth Defect

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alcohol-Related Birth Defect

Search GEO for disease gene expression data for Alcohol-Related Birth Defect.

Pathways for genes affiliated with Alcohol-Related Birth Defect

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 54Reactome, 4Cell Signaling Technology, 50PharmGKB
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Pathways related to Alcohol-Related Birth Defect according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CYP2E1, ADH1B
2
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9.8CYP2E1, ADH1B
3
Retinol metabolism
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9.8ALDH1A2, CYP2E1
49.8ALDH1A2, CYP2E1
5
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9.7ADH6, ADH1B
6
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9.7ADH6, ADH1B
7
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9.7ADH1B, ADH6
8
Naphthalene metabolism
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9.6CYP2E1, AKR1A1
99.4DVL3, NKD2
10
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9.1AKR1A1, ADH1B, ADH6
11
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9.1ADH6, ADH1B, AKR1A1
129.1DVL3, DMBX1, ZIC5
139.0NKD2, DVL3, OTX2
14
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9.0CYP2E1, ALDH1A2, ADH1B, ADH6
15
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8.8AKR1A1, CYP2E1, ADH1B, ADH6
16
Hide members
8.8ADH6, ADH1B, CYP2E1, AKR1A1

Compounds for genes affiliated with Alcohol-Related Birth Defect

Sources:
11DrugBank, 45Novoseek, 24HMDB, 50PharmGKB, 60Tocris Bioscience, 29IUPHAR
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Compounds related to Alcohol-Related Birth Defect according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1Fomepizole1110.1ADH1B, CYP2E1
2n-benzylformamide45 1111.0ADH1B, AKR1A1
34-methylpyrazole459.9CYP2E1, AKR1A1
4betaine aldehyde45 2410.9ADH1B, ADH6
5isopropanol459.9AKR1A1, CYP2E1
6trichloroethylene459.8AKR1A1, CYP2E1
7pyrazole45 1110.8CYP2E1, AKR1A1
8benzyl alcohol45 1110.7CYP2E1, AKR1A1
9nash459.7CYP2E1, AKR1A1
10rsai459.7ADH1B, CYP2E1, AKR1A1
11abacavir45 50 1111.7ADH6, AKR1A1
12Nicotinamide-Adenine-Dinucleotide119.6ADH1B, ALDH1A2, AKR1A1
13acetone459.6AKR1A1, CYP2E1
14disulfiram45 60 1111.6CYP2E1, AKR1A1
152'-Monophosphoadenosine 5'-Diphosphoribose119.6ADH1B, AKR1A1
16mspi459.5ADH1B, CYP2E1
17glycerol45 11 2411.1AKR1A1, CYP2E1, ADH1B, ADH6
18ethanol45 50 11 2412.1AKR1A1, CYP2E1, ADH1B, ADH6
19nad29 2410.1AKR1A1, ALDH1A2, ADH1B, ADH6
20nadh45 11 2411.0ADH6, ADH1B, ALDH1A2, AKR1A1
21nadph45 2410.0ADH6, ADH1B, CYP2E1, AKR1A1
22acetaldehyde45 29 2410.8ADH6, ADH1B, ALDH1A2, CYP2E1, AKR1A1
23vitamin a45 11 2410.8AKR1A1, CYP2E1, ALDH1A2, ADH1B, ADH6

GO Terms for genes affiliated with Alcohol-Related Birth Defect

Sources:
16Gene Ontology
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Biological processes related to Alcohol-Related Birth Defect according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1midbrain developmentGO:0309019.9EN2, OTX2
2hindbrain developmentGO:0309029.7ALDH1A2, EN2
3ethanol oxidationGO:0060699.7ADH6, ADH1B
4xenobiotic metabolic processGO:0068059.0ADH6, ADH1B, CYP2E1

Products for genes affiliated with Alcohol-Related Birth Defect

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Sources for Alcohol-Related Birth Defect

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet