MCID: ALC001
MIFTS: 32

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 14
Alcohol Related Birth Defect 69
Fetal Alcohol Syndrome 69
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 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 Collagen chain trimerization and Formation of Fibrin Clot (Clotting Cascade). The drugs Ethanol and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are behavior/neurological and mortality/aging

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 74)
# Related Disease Score Top Affiliating Genes
1 fetal alcohol syndrome 12.1
2 fetal alcohol spectrum disorder 11.8
3 acquired von willebrand syndrome 10.2 F11 F8
4 foodborne botulism 10.2 GP2 SNAP25 SV2C
5 lemierre's syndrome 10.1 F11 F3
6 intracranial thrombosis 10.0 F3 F8
7 multicentric castleman disease 10.0 F3 F8
8 factor xiii deficiency 10.0 F3 F8
9 hemophilia a 9.9 F3 F8
10 vitamin k deficiency hemorrhagic disease 9.9 F2 F8
11 cardiac tamponade 9.9 F2 F8
12 retinal artery occlusion 9.9 F2 F8
13 thrombophlebitis 9.8 F2 F8
14 cerebral falx meningioma 9.8 F2 F3
15 intestinal impaction 9.8 F2 F3
16 cerebral sinovenous thrombosis 9.8 F2 F3
17 leech infestation 9.8 F2 F3
18 giant hemangioma 9.8 F2 F3
19 sagittal sinus thrombosis 9.8 F2 F3
20 blue toe syndrome 9.8 F2 F3
21 post-thrombotic syndrome 9.8 F2 F8
22 intracranial embolism 9.8 F2 F3
23 acquired hemophilia a 9.8 F11 F3 F8
24 acquired hemophilia 9.8 F11 F3 F8
25 femoral neuropathy 9.8 F2 F3
26 hantavirus pulmonary syndrome 9.8 F2 F3
27 anterior cranial fossa meningioma 9.8 F2 F3
28 marantic endocarditis 9.8 F2 F3
29 splenic disease 9.8 F2 F3
30 compartment syndrome 9.8 F2 F8
31 purpura fulminans 9.8 F2 F3
32 korean hemorrhagic fever 9.8 F2 F3
33 hepatic infarction 9.8 F2 F3
34 retinitis pigmentosa, y-linked 9.8 F2 WDTC1
35 peripheral vertigo 9.7 F2 F3
36 squamous cell papilloma 9.7 F2 F3
37 hemorrhagic fever 9.7 F2 F3
38 analbuminemia 9.7 F2 F3
39 endocardium disease 9.7 F2 F3
40 factor viii deficiency 9.7 F11 F2 F8
41 hepatic vascular disease 9.6 F2 F3
42 protein s deficiency 9.6 F2 F3
43 thrombasthenia 9.6 F2 F3
44 factor x deficiency 9.6 F11 F2 F3
45 intracranial hypertension 9.6 F2 F3
46 hepatitis a 9.5 F2 F3
47 fournier gangrene 9.5 F2 F3 F8
48 von willebrand disease, type 1 9.5 F2 F3 F8
49 qualitative platelet defect 9.5 F2 F3 WDTC1
50 inherited blood coagulation disease 9.5 F2 F3 F8

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 F11 F2 F3 FGFR3 SNAP25 SV2A
2 mortality/aging MP:0010768 9.76 F11 F2 F3 F8 FGFR3 SNAP25
3 normal MP:0002873 9.43 F2 F3 FGFR3 GP2 SNAP25 SV2A
4 respiratory system MP:0005388 9.02 F11 F2 F3 FGFR3 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 64-17-5 702
2 Anti-Infective Agents
3 Anti-Infective Agents, Local
4 Central Nervous System Depressants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Reducing Alcohol Exposed Pregnancy Risk: EARLY Randomized Controlled Trial Completed NCT01446653

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:

38
Bone

Publications for Alcohol-Related Birth Defect

Articles related to Alcohol-Related Birth Defect:

# Title Authors Year
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

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
12.34 F11 F2 F3 F8
2
Show member pathways
11.46 F11 F2 F3 F8
3
Show member pathways
11.23 SNAP25 SV2A SV2C
4 11.07 F11 F2 F3 F8
5
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 9.61 F11 F2 F3 F8 FGFR3 GP2
2 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 9.54 SNAP25 SV2A SV2C
2 blood coagulation GO:0007596 9.46 F11 F2 F3 F8
3 neurotransmitter transport GO:0006836 9.4 SV2A SV2C
4 acute-phase response GO:0006953 9.32 F2 F8
5 regulation of blood coagulation GO:0030193 9.26 F11 F2
6 blood coagulation, intrinsic pathway GO:0007597 9.13 F11 F2 F8
7 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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