MCID: ALC001
MIFTS: 42

Alcohol-Related Birth Defect

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 74
Fetal Alcohol Syndrome 74
Arbd 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050668

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 spectrum disorder and fetal alcohol syndrome. An important gene associated with Alcohol-Related Birth Defect is SV2C (Synaptic Vesicle Glycoprotein 2C), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Ethanol and Central Nervous System Depressants have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and eye, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Alcohol-Related Birth Defect

Diseases related to Alcohol-Related Birth Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 fetal alcohol spectrum disorder 33.2 IGF2 SV2C
2 fetal alcohol syndrome 12.3
3 acquired von willebrand syndrome 10.2 F11 F8
4 foodborne botulism 10.2 GP2 SNAP25 SV2C
5 red-green color blindness 10.1 F8 IGF2
6 lemierre's syndrome 10.1 F11 F3
7 factor xiii deficiency 10.0 F3 F8
8 intracranial thrombosis 10.0 F3 F8
9 retinal artery occlusion 10.0 F2 F8
10 brachydactyly, type d 9.9 F2 F8
11 cardiac tamponade 9.9 F2 F8
12 livedoid vasculitis 9.9 F2 F8
13 orbital cyst 9.9 F2 IGF2
14 thrombophlebitis 9.9 F2 F8
15 acquired hemophilia 9.9 F11 F3 F8
16 acquired hemophilia a 9.9 F11 F3 F8
17 hemophilia a 9.9 F11 F3 F8
18 post-thrombotic syndrome 9.9 F2 F8
19 von willebrand disease, type 3 9.9 F11 F3 F8
20 thrombasthenia 9.9 F2 F3
21 cerebral falx meningioma 9.9 F2 F3
22 leech infestation 9.9 F2 F3
23 compartment syndrome 9.9 F2 F8
24 prothrombin deficiency 9.9 F2 F3
25 intestinal impaction 9.9 F2 F3
26 cerebral sinovenous thrombosis 9.9 F2 F3
27 giant hemangioma 9.9 F2 F3
28 sagittal sinus thrombosis 9.9 F2 F3
29 blue toe syndrome 9.9 F2 F3
30 femoral neuropathy 9.8 F2 F3
31 hantavirus pulmonary syndrome 9.8 F2 F3
32 anterior cranial fossa meningioma 9.8 F2 F3
33 korean hemorrhagic fever 9.8 F2 F3
34 marantic endocarditis 9.8 F2 F3
35 vascular hemostatic disease 9.8 F2 F3
36 splenic disease 9.8 F2 F3
37 purpura fulminans 9.8 F2 F3
38 hepatic infarction 9.8 F2 F3
39 retinitis pigmentosa, y-linked 9.8 F2 WDTC1
40 peripheral vertigo 9.8 F2 F3
41 factor viii deficiency 9.8 F11 F2 F8
42 blood protein disease 9.8 F2 F3
43 von willebrand disease, type 2 9.8 F3 F8
44 endocardium disease 9.8 F2 F3
45 analbuminemia 9.7 F2 F3
46 hepatic vascular disease 9.7 F2 F3
47 factor xi deficiency 9.7 F11 F2 F3
48 pulmonary artery disease 9.7 F2 F3
49 factor x deficiency 9.7 F11 F2 F3
50 squamous cell papilloma 9.7 F2 F3

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

MGI Mouse Phenotypes related to Alcohol-Related Birth Defect:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.92 F11 F2 F3 FGFR3 IGF2 SNAP25
2 growth/size/body region MP:0005378 9.86 F11 F2 F3 FGFR3 IGF2 SNAP25
3 mortality/aging MP:0010768 9.81 F11 F2 F3 F8 FGFR3 IGF2
4 normal MP:0002873 9.43 F2 F3 FGFR3 GP2 SNAP25 SV2A
5 respiratory system MP:0005388 9.1 F11 F2 F3 FGFR3 IGF2 SNAP25

Drugs & Therapeutics for Alcohol-Related Birth Defect

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Not Applicable 64-17-5 702
2 Central Nervous System Depressants Not Applicable
3 Anti-Infective Agents Not Applicable
4 Anti-Infective Agents, Local Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Reducing Alcohol Exposed Pregnancy Risk: EARLY Randomized Controlled Trial Completed NCT01446653 Not Applicable

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:

42
Bone, Brain, Eye, Liver, Testes, Cortex, Thymus

Publications for Alcohol-Related Birth Defect

Articles related to Alcohol-Related Birth Defect:

(show top 50) (show all 844)
# Title Authors Year
1
3D Analysis of Philtrum Depth in Children with Fetal Alcohol Syndrome. ( 30608520 )
2019
2
Fatal Intestinal Obstruction in a Patient With Fetal Alcohol Syndrome. ( 30624241 )
2019
3
Guidance on fetal alcohol syndrome aims to improve diagnosis and treatment in Scotland. ( 30679200 )
2019
4
Are low to moderate average alcohol consumption and isolated episodes of binge drinking in early pregnancy associated with facial features related to fetal alcohol syndrome in five-year-old children? ( 30977899 )
2019
5
Corrigendum: Fetal Alcohol Syndrome Disorder - diminished responsibility and mitigation of sentence. ( 31112032 )
2019
6
Fetal Alcohol Syndrome Disorder: diminished responsibility and mitigation of sentence. ( 28699765 )
2018
7
Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation. ( 28820871 )
2018
8
Competition between ethanol clearance and retinoic acid biosynthesis in the induction of fetal alcohol syndrome. ( 28982012 )
2018
9
Xenopus embryos to study fetal alcohol syndrome, a model for environmental teratogenesis. ( 29069552 )
2018
10
Recognition of clinical characteristics for population-based surveillance of fetal alcohol syndrome. ( 29368410 )
2018
11
Effects of ethanol and varenicline on female Sprague-Dawley rats in a third trimester model of fetal alcohol syndrome. ( 30059955 )
2018
12
Atypical fetal development: Fetal alcohol syndrome, nutritional deprivation, teratogens, and risk for neurodevelopmental disorders and psychopathology. ( 30068419 )
2018
13
Comparing diagnostic outcomes of children with fetal alcohol syndrome in South Africa with diagnostic outcomes when using the updated Institute of Medicine diagnostic guidelines. ( 30347134 )
2018
14
Societal costs of fetal alcohol syndrome in Sweden. ( 27279344 )
2017
15
Estimation of national, regional, and global prevalence of alcohol use during pregnancy and fetal alcohol syndrome: a systematic review and meta-analysis. ( 28089487 )
2017
16
High global prevalence of alcohol use during pregnancy and fetal alcohol syndrome indicates need for urgent action. ( 28089488 )
2017
17
Unreliable estimation of prevalence of fetal alcohol syndrome. ( 28495259 )
2017
18
Unreliable estimation of prevalence of fetal alcohol syndrome. ( 28495260 )
2017
19
Unreliable estimation of prevalence of fetal alcohol syndrome - Authors' reply. ( 28495261 )
2017
20
Differences in neural crest sensitivity to ethanol account for the infrequency of anterior segment defects in the eye compared with craniofacial anomalies in a zebrafish model of fetal alcohol syndrome. ( 28681995 )
2017
21
A Rat Model of Fetal Alcohol Syndrome: A Series of Undergraduate Laboratory Exercises for Biopsychology Courses. ( 28690436 )
2017
22
The Prevalence of Fetal Alcohol Syndrome and Its Impact on a Child's Classroom Performance: A Case Study of a Rural South African School. ( 28792446 )
2017
23
Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorders. ( 29094891 )
2017
24
Digital assessment of the fetal alcohol syndrome facial phenotype: reliability and agreement study. ( 29637153 )
2017
25
Modeling Symptoms of Attention-Deficit Hyperactivity Disorder in a Rat Model of Fetal Alcohol Syndrome. ( 27117236 )
2016
26
Fetal Alcohol Syndrome in Sudden Unexpected Death in Infancy: A Case Report in Medicolegal Autopsy. ( 26730801 )
2016
27
Life Expectancy of People with Fetal Alcohol Syndrome. ( 26962962 )
2016
28
Fetal Alcohol Syndrome and Maternal Alcohol Biomarkers in Sera: A Register-Based Case-Control Study. ( 27228551 )
2016
29
Pattern of Retinal Nerve Fiber Layer Thickness Loss in Fetal Alcohol Syndrome: A Spectral-Domain Optical Coherence Tomography Analysis. ( 27349777 )
2016
30
Childhood placement in out-of-home care in relation to psychosocial outcomes in adults with fetal alcohol syndrome. ( 27371665 )
2016
31
An Update on Fetal Alcohol Syndrome-Pathogenesis, Risks, and Treatment. ( 27375266 )
2016
32
Changes in drinking patterns during and after pregnancy among mothers of children with fetal alcohol syndrome: A study in three districts of South Africa. ( 27610936 )
2016
33
Magnetic resonance imaging (MRI) findings among children with fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (pFAS) and alcohol related neurodevelopmental disorders (ARND). ( 29688653 )
2016
34
Fetal alcohol syndrome and secondary schizophrenia: a unique neuropathologic study. ( 24563476 )
2015
35
Advances in the development of novel antioxidant therapies as an approach for fetal alcohol syndrome prevention. ( 25131946 )
2015
36
Psychosocial outcomes of fetal alcohol syndrome in adulthood. ( 25535260 )
2015
37
Prevalence of fetal alcohol syndrome in a population-based sample of children living in remote Australia: the Lililwan Project. ( 25594247 )
2015
38
A transition in fetal alcohol syndrome research: the shift from animal modeling to human intervention. ( 25614482 )
2015
39
Fetal alcohol syndrome among children aged 7-9 years - Arizona, Colorado, and New York, 2010. ( 25632951 )
2015
40
Effect of boric acid on oxidative stress in rats with fetal alcohol syndrome. ( 25667671 )
2015
41
Cognitive and executive functions, social cognition and sense of coherence in adults with fetal alcohol syndrome. ( 25697067 )
2015
42
Methods for surveillance of fetal alcohol syndrome: The Fetal Alcohol Syndrome Surveillance Network II (FASSNetII) - Arizona, Colorado, New York, 2009 - 2014. ( 25761572 )
2015
43
Reduced DNA methylation at the PEG3 DMR and KvDMR1 loci in children exposed to alcohol in utero: a South African Fetal Alcohol Syndrome cohort study. ( 25806045 )
2015
44
Prevalence of fetal alcohol syndrome in a South African city with a predominantly Black African population. ( 25941030 )
2015
45
Mental and Motor Development of Children with Preterm Birth and Children with Fetal Alcohol Syndrome. ( 26038965 )
2015
46
Prevalence and characteristics of fetal alcohol syndrome and partial fetal alcohol syndrome in a Rocky Mountain Region City. ( 26321671 )
2015
47
Dose-dependent alcohol-induced alterations in chromatin structure persist beyond the window of exposure and correlate with fetal alcohol syndrome birth defects. ( 26421061 )
2015
48
Fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorder (FASD)-diagnosis and moral policing; an ethical dilemma for paediatricians. ( 25005521 )
2014
49
In Western Australia, 70% of mothers of babies with fetal alcohol syndrome did not have an alcohol-related diagnosis recorded during pregnancy. ( 24170816 )
2014
50
The role of NADPH oxidase in a mouse model of fetal alcohol syndrome. ( 24334207 )
2014

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
12.88 F11 F2 F3 F8 IGF2
2
Show member pathways
12.39 F11 F2 F3 F8
3
Show member pathways
11.46 F11 F2 F3 F8
4
Show member pathways
11.23 SNAP25 SV2A SV2C
5 11.07 F11 F2 F3 F8
6 10.64 F2 IGF2
7
Show member pathways
10.26 SV2A SV2C

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 9.81 F11 F2 F3 F8 FGFR3 GP2
2 extracellular region GO:0005576 9.5 F11 F2 F3 F8 FGFR3 GP2
3 integral component of synaptic vesicle membrane GO:0030285 9.26 SV2A SV2C
4 synaptic vesicle GO:0008021 8.8 SNAP25 SV2A SV2C

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

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.63 SNAP25 SV2A SV2C
2 positive regulation of protein kinase B signaling GO:0051897 9.54 F3 FGFR3 IGF2
3 blood coagulation GO:0007596 9.46 F11 F2 F3 F8
4 neurotransmitter transport GO:0006836 9.43 SV2A SV2C
5 acute-phase response GO:0006953 9.4 F2 F8
6 synaptic vesicle priming GO:0016082 9.32 SNAP25 SV2A
7 regulation of blood coagulation GO:0030193 9.26 F11 F2
8 blood coagulation, intrinsic pathway GO:0007597 9.13 F11 F2 F8
9 hemostasis GO:0007599 8.92 F11 F2 F3 F8

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

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.8 F11 F2 F3

Sources for Alcohol-Related Birth Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....