ARBD
MCID: ALC001
MIFTS: 36

Alcohol-Related Birth Defect (ARBD)

Categories: Fetal diseases, Mental diseases

Aliases & Classifications for Alcohol-Related Birth Defect

MalaCards integrated aliases for Alcohol-Related Birth Defect:

Name: Alcohol-Related Birth Defect 12 15
Alcohol Related Birth Defect 70
Fetal Alcohol Syndrome 70
Arbd 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050668
UMLS 70 C0015923 C3146244

Summaries for Alcohol-Related Birth Defect

Disease Ontology : 12 A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.

MalaCards based summary : Alcohol-Related Birth Defect, also known as alcohol related birth defect, is related to fetal alcohol syndrome and fetal alcohol spectrum disorder. An important gene associated with Alcohol-Related Birth Defect is SV2C (Synaptic Vesicle Glycoprotein 2C), and among its related pathways/superpathways are Drug metabolism - cytochrome P450 and Fatty Acyl-CoA Biosynthesis. The drugs Neurotransmitter Agents and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Alcohol-Related Birth Defect

Graphical network of the top 20 diseases related to Alcohol-Related Birth Defect:



Diseases related to Alcohol-Related Birth Defect

Symptoms & Phenotypes for Alcohol-Related Birth Defect

GenomeRNAi Phenotypes related to Alcohol-Related Birth Defect according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-10 9.55 ADH1B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.55 ADH1B RNF146 TNFSF12
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.55 TNFSF12
4 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.55 ADH1B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.55 RNF146
6 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.55 RNF146
7 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.55 ADH1B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.55 RNF146
9 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.55 TNFSF12
10 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.55 TNFSF12
11 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.55 RNF146
12 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.55 RNF146
13 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.55 ADH1B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.55 TNFSF12
15 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.55 RNF146

Drugs & Therapeutics for Alcohol-Related Birth Defect

Drugs for Alcohol-Related Birth Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Neurotransmitter Agents Phase 3
2 Adrenergic Agents Phase 3
3 Atomoxetine Hydrochloride Phase 3
4
Ethanol Approved Phase 1, Phase 2 64-17-5 702
5
Epigallocatechin gallate Investigational 989-51-5 65064
6
Epigallocatechin Experimental, Investigational 970-74-1 72277
7 Antioxidants
8 Neuroprotective Agents
9 Protective Agents

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 An Open-label Study of the Long Term Tolerability and Safety of Atomoxetine in Treating the Inattention, Impulsivity and Hyperactivity in Children With Fetal-Alcohol Syndrome or Effects. Completed NCT00418262 Phase 3 Atomoxetine
2 Neurocognitive Habilitation for Children With FAS/ARND Completed NCT00164346 Phase 1, Phase 2
3 Fetal Alcohol Syndrome/ARND Research Consortion-Oklahoma Completed NCT00164554 Phase 1, Phase 2
4 Study to Investigate the Effectiveness of a Math Intervention for Children With Fetal Alcohol Syndrome or Related Condition Completed NCT00164229 Phase 1, Phase 2
5 Neighborhood Alcohol & HIV Prevention in South African Townships (Philani) Active, not recruiting NCT00996528 Phase 2
6 A Study of the Efficacy of Atomoxetine in Treating the Inattention, Impulsivity and Hyperactivity in Children With Fetal Alcohol Syndrome or Effects Completed NCT00417794 Phase 1 Strattera;Placebo
7 Prevention of Fetal Alcohol Damage Using Maternal Blood Markers Completed NCT00696085
8 Newborn Phosphatidylethanol Screening to Detect Fetal Alcohol Exposure in Uruguay Completed NCT02600624
9 Epigallocatechin Gallate (EGCG) as Therapeutic Tool to Improve Cognitive Performance in Foetal Alcohol Syndrome (FAS) Children Completed NCT02558933
10 Preventing FAS/ARND in Russian Children Completed NCT01961050
11 "Brief Alcohol Intervention: The Healthy Moms Project." Completed NCT00244062
12 Improving Self Regulation in Children With Fetal Alcohol Syndrome Spectrum Disorders: A Neuroplastic Intervention Completed NCT02457676
13 Development of Education Materials for Prevention of Fetal Alcohol Syndrome (FAS) in Russia Completed NCT01971398
14 In Utero Alcoholic Exposure: PlGF, Biomarker of Fetal Brain Lesions Recruiting NCT03371641
15 Evaluating the Efficacy of a Video Based Intervention to Educate Teen Moms About Fetal Alcohol Syndrome Terminated NCT00747630 Early Phase 1

Search NIH Clinical Center for Alcohol-Related Birth Defect

Genetic Tests for Alcohol-Related Birth Defect

Anatomical Context for Alcohol-Related Birth Defect

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

40
Brain, Cortex, Liver, Eye, Fetal Brain, Cerebellum, Heart

Publications for Alcohol-Related Birth Defect

Articles related to Alcohol-Related Birth Defect:

(show top 50) (show all 2303)
# Title Authors PMID Year
1
Early-life exposure to alcohol and the risk of alcohol-induced liver disease in adulthood. 61
33577143 2021
2
[Psychological interventions on fetal alcohol spectrum disorder across the life span]. 61
33616199 2021
3
Transcriptomic Changes Due to Early, Chronic Intermittent Alcohol Exposure During Forebrain Development Implicate WNT Signaling, Cell-Type Specification and Cortical Regionalization as Primary Determinants of Fetal Alcohol Syndrome. 61
33682149 2021
4
A culturally tailored intervention to reduce risk of alcohol-exposed pregnancies in American Indian communities: Rationale, design, and methods. 61
33706001 2021
5
Why the immorality of consuming alcohol during pregnancy cannot tell us that abortion is immoral: A reply to Hendricks. 61
33655514 2021
6
Evolution of the Physical Phenotype of Fetal Alcohol Spectrum Disorders from Childhood through Adolescence. 61
33320363 2021
7
Infant Cardiac Orienting Responses Predict Later FASD in the Preschool Period. 61
33277942 2021
8
Prevalence of Fetal Alcohol Spectrum Disorders (FASD) among Children Adopted from Eastern European Countries: Russia and Ukraine. 61
33546212 2021
9
Use of Telemedicine for the Physical Examination of Children With Fetal Alcohol Spectrum Disorders. 61
33316074 2021
10
Disability, Hospital Care, and Cost: Utilization of Emergency and Inpatient Care by a Cohort of Children with Intellectual and Developmental Disabilities. 61
32890584 2021
11
Ethanol-mediated alterations in oligodendrocyte differentiation in the developing brain. 61
33189883 2021
12
Fetal alcohol spectrum disorders - Diagnostic difficulties in the neonatal period and new diagnostic approaches. 61
33759417 2021
13
Predictive value of indicators for identifying child maltreatment and intimate partner violence in coded electronic health records: a systematic review and meta-analysis. 61
32788201 2021
14
Institutionalized Children and the Risk of Fetal Alcohol Spectrum Disorder (FASD); A Primer for Clinicians, Adoption Staff and Parents. 61
33644259 2021
15
Fetal Alcohol Exposure Alters BOLD Activation Patterns in Brain Regions Mediating the Interpretation of Facial Affect. 61
33220071 2021
16
The prevalence, child characteristics, and maternal risk factors for the continuum of fetal alcohol spectrum disorders: A sixth population-based study in the same South African community. 61
33250379 2021
17
Calcitriol alleviates ethanol-induced hepatotoxicity via AMPK/mTOR-mediated autophagy. 61
33232716 2021
18
Altered Resting-State Neural Oscillations and Spectral Power in Children with Fetal Alcohol Spectrum Disorder. 61
33164218 2021
19
Molecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective. 61
33375093 2020
20
[Fetal alcohol spectrum disorders in adults]. 61
33104818 2020
21
Alcohol use in pregnancy and its impact on the mother and child. 61
32149441 2020
22
In utero alcohol exposure exacerbates endothelial protease activity from pial microvessels and impairs GABA interneuron positioning. 61
32890773 2020
23
Fine-tuning the impairment argument. 61
33172908 2020
24
Against the impairment argument: A reply to Hendricks. 61
32017158 2020
25
Ocular measurements in fetal alcohol spectrum disorders. 61
32677343 2020
26
Associated anomalies in cases with congenital clubfoot. 61
32592281 2020
27
MIP does not save the impairment argument against abortion: a reply to Blackshaw and Hendricks. 61
32878916 2020
28
Against the strengthened impairment argument: never-born fetuses have no FLO to deprive. 61
32839231 2020
29
Graded Cerebellar Lobular Volume Deficits in Adolescents and Young Adults with Fetal Alcohol Spectrum Disorders (FASD). 61
32133485 2020
30
Incontinence in persons with fetal alcohol spectrum disorders: a polish cohort. 61
32222270 2020
31
Fetal alcohol spectrum disorder among pre-adopted and foster children. 61
32493264 2020
32
Strengthening the impairment argument against abortion. 61
32503928 2020
33
Characterizing Alcohol-Related Neurodevelopmental Disorder: Prenatal Alcohol Exposure and the Spectrum of Outcomes. 61
32173870 2020
34
Prevalence and patterns of sensory processing behaviors in a large clinical sample of children with prenatal alcohol exposure. 61
32203885 2020
35
Folic acid supplement rescues ethanol-induced developmental defects in the zebrafish embryos. 61
32369106 2020
36
Alcohol use in young adults associated with cortical gyrification. 61
32088591 2020
37
Reduced Hippocampal Volumes Partially Mediate Effects of Prenatal Alcohol Exposure on Spatial Navigation on a Virtual Water Maze Task in Children. 61
32196695 2020
38
Mental health outcomes among parents of a child who has a developmental disability: Comparing different types of developmental disability. 61
31796336 2020
39
18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotype. 61
32096599 2020
40
Fetal Alcohol Spectrum Disorders in a Southeastern County of the United States: Child Characteristics and Maternal Risk Traits. 61
32293734 2020
41
Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence. 61
32293735 2020
42
Four-year follow-up of a randomized controlled trial of choline for neurodevelopment in fetal alcohol spectrum disorder. 61
32164522 2020
43
Fetal Alcohol Spectrum Disorders: Health Needs Assessment in Brazil. 61
31984499 2020
44
Abortion is incommensurable with fetal alcohol syndrome. 61
31788809 2020
45
Radiological Findings on Structural Magnetic Resonance Imaging in Fetal Alcohol Spectrum Disorders and Healthy Controls. 61
31840819 2020
46
The impairment argument for the immorality of abortion revisited. 61
31788824 2020
47
Direct OPTOS Nerve Size Determination of Prevalent Optic Nerve Hypoplasia in Alaska. 61
32109985 2020
48
The protective effect of quercetin in the alcohol-induced liver and lymphoid tissue injuries in newborns. 61
31673888 2020
49
Bioactivity-Guided Isolation and Identification of Anti-adipogenic Constituents from the n-Butanol Fraction of Cissus quadrangularis. 61
33463919 2020
50
Validity of automated FreeSurfer segmentation compared to manual tracing in detecting prenatal alcohol exposure-related subcortical and corpus callosal alterations in 9- to 11-year-old children. 61
32791491 2020

Variations for Alcohol-Related Birth Defect

Expression for Alcohol-Related Birth Defect

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

Pathways for Alcohol-Related Birth Defect

Pathways related to Alcohol-Related Birth Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 CYP2E1 ADH4 ADH1C ADH1B
2
Show member pathways
12.1 ADH4 ADH1C ADH1B
3 11.1 CYP2E1 ADH4
4
Show member pathways
11.03 ADH4 ADH1C ADH1B
5
Show member pathways
10.58 ADH4 ADH1B
6
Show member pathways
10.54 CYP2E1 ADH1B
7
Show member pathways
10.47 ADH1C ADH1B
8
Show member pathways
10.3 CYP2E1 ADH1B
9
Show member pathways
10.29 ADH4 ADH1C ADH1B
10
Show member pathways
10.16 SV2C SV2A

GO Terms for Alcohol-Related Birth Defect

Cellular components related to Alcohol-Related Birth Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.97 TNFSF12 TMEM120A SV2C SV2A RNF146 NTNG2
2 anchored component of plasma membrane GO:0046658 9.26 NTNG2 NTNG1
3 integral component of synaptic vesicle membrane GO:0030285 9.16 SV2C SV2A
4 laminin complex GO:0043256 8.96 NTNG2 NTNG1
5 anchored component of presynaptic active zone membrane GO:0099029 8.62 NTNG2 NTNG1

Biological processes related to Alcohol-Related Birth Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter transport GO:0006836 9.48 SV2C SV2A
2 regulation of neuron projection development GO:0010975 9.46 NTNG2 NTNG1
3 tissue development GO:0009888 9.43 NTNG2 NTNG1
4 retinoic acid metabolic process GO:0042573 9.4 ADH1C ADH1B
5 synaptic membrane adhesion GO:0099560 9.37 NTNG2 NTNG1
6 regulation of neuron migration GO:2001222 9.32 NTNG2 NTNG1
7 basement membrane assembly GO:0070831 9.26 NTNG2 NTNG1
8 regulation of neuron projection arborization GO:0150011 9.16 NTNG2 NTNG1
9 retinol metabolic process GO:0042572 9.13 ADH4 ADH1C ADH1B
10 ethanol oxidation GO:0006069 8.8 ADH4 ADH1C ADH1B

Molecular functions related to Alcohol-Related Birth Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.65 RNF146 ADH4 ADH1C ADH1B ACER3
2 oxidoreductase activity GO:0016491 9.62 CYP2E1 ADH4 ADH1C ADH1B
3 alcohol dehydrogenase (NAD) activity GO:0004022 9.16 ADH4 ADH1C
4 retinol dehydrogenase activity GO:0004745 9.13 ADH4 ADH1C ADH1B
5 alcohol dehydrogenase activity, zinc-dependent GO:0004024 8.8 ADH4 ADH1C ADH1B

Sources for Alcohol-Related Birth Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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