ARBD
MCID: ALC001
MIFTS: 29

Alcohol-Related Birth Defect (ARBD) malady

Summaries for Alcohol-Related Birth Defect

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8Disease Ontology, 32MalaCards
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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 spectrum disorder and fetal alcohol syndrome. 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. Affiliated tissues include bone, and related mouse phenotypes are embryogenesis and craniofacial.

Aliases & Classifications for Alcohol-Related Birth Defect

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8Disease Ontology, 60UMLS
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Aliases & Descriptions:

alcohol-related birth defect 8
alcohol related birth defect 60
arbd 8


External Ids:

Disease Ontology8 DOID:0050668

Related Diseases for Alcohol-Related Birth Defect

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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 spectrum disorder30.5ADH1B, AKR1A1
2fetal alcohol syndrome10.2
3alcohol dependence10.0ADH6, ADH1B
4esophageal cancer10.0CYP2E1, ADH1B
5alcoholic pancreatitis10.0ADH1B, AKR1A1, CYP2E1
6alcoholic liver cirrhosis10.0ADH1B, CYP2E1, AKR1A1
7pancreatitis, chronic10.0CYP2E1, AKR1A1, ADH1B
8galactosemia10.0CYP2E1, ADH1B, AKR1A1
9liver cirrhosis10.0ADH1B, CYP2E1, AKR1A1

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



Diseases related to alcohol-related birth defect

Clinical Features for Alcohol-Related Birth Defect

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Drugs & Therapeutics for Alcohol-Related Birth Defect

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Alcohol-Related Birth Defect

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Sources:
32MalaCards
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MalaCards organs/tissues related to Alcohol-Related Birth Defect:

32
Bone

Animal Models for Alcohol-Related Birth Defect or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Alcohol-Related Birth Defect:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.8ZIC5, EN2, OTX2, DVL3, ALDH1A2
2MP:00053827.9AKR1A1, ZIC5, NKD2, DVL3, OTX2, ALDH1A2
3MP:00053907.7ALDH1A2, NKD2, AKR1A1, ZIC5, DVL3, OTX2
4MP:00053897.4NKD2, AKR1A1, EN2, OTX2, DMBX1, DIO3
5MP:00053767.4DMBX1, EN2, AKR1A1, CYP2E1, DVL3, OTX2
6MP:00053867.3DMBX1, EN2, OTX2, CYP2E1, ZIC5, NKD2
7MP:00053787.0DIO3, ZIC5, EN2, OTX2, DVL3, NKD2
8MP:00107687.0DIO3, EN2, ZIC5, OTX2, ALDH1A2, DMBX1

Publications for Alcohol-Related Birth Defect

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50PubMed
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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

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Expression for genes affiliated with Alcohol-Related Birth Defect

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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

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Sources:
37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 53Reactome, 4Cell Signaling Technology, 49PharmGKB
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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
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8.8ADH6, ADH1B, CYP2E1, AKR1A1

Compounds for genes affiliated with Alcohol-Related Birth Defect

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Sources:
11DrugBank, 44Novoseek, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR
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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-benzylformamide44 1111.0ADH1B, AKR1A1
34-methylpyrazole449.9CYP2E1, AKR1A1
4betaine aldehyde44 2410.9ADH6, ADH1B
5isopropanol449.9AKR1A1, CYP2E1
6trichloroethylene449.8AKR1A1, CYP2E1
7pyrazole44 1110.8AKR1A1, CYP2E1
8benzyl alcohol44 1110.7AKR1A1, CYP2E1
9nash449.7AKR1A1, CYP2E1
10rsai449.7AKR1A1, CYP2E1, ADH1B
11abacavir44 49 1111.7AKR1A1, ADH6
12Nicotinamide-Adenine-Dinucleotide119.6AKR1A1, ADH1B, ALDH1A2
13acetone449.6CYP2E1, AKR1A1
14disulfiram44 59 1111.6AKR1A1, CYP2E1
152'-Monophosphoadenosine 5'-Diphosphoribose119.6ADH1B, AKR1A1
16mspi449.5ADH1B, CYP2E1
17glycerol44 11 2411.1ADH1B, CYP2E1, AKR1A1, ADH6
18ethanol44 49 11 2412.1AKR1A1, ADH6, ADH1B, CYP2E1
19nad28 2410.1ALDH1A2, ADH6, ADH1B, AKR1A1
20nadh44 11 2411.0ALDH1A2, AKR1A1, ADH1B, ADH6
21nadph44 2410.0AKR1A1, ADH6, ADH1B, CYP2E1
22acetaldehyde44 28 2410.8AKR1A1, CYP2E1, ALDH1A2, ADH1B, ADH6
23vitamin a44 11 2410.8ADH6, AKR1A1, CYP2E1, ALDH1A2, ADH1B

GO Terms for genes affiliated with Alcohol-Related Birth Defect

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet