ARBD
MCID: ALC001
MIFTS: 31

Alcohol-Related Birth Defect (ARBD) malady

Categories: Mental diseases, Fetal diseases

Aliases & Classifications for Alcohol-Related Birth Defect

Aliases & Descriptions 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 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 Collagen chain trimerization and Formation of Fibrin Clot (Clotting Cascade). The drugs Ethanol and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are behavior/neurological and normal

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)
id Related Disease Score Top Affiliating Genes
1 fetal alcohol spectrum disorder 11.7
2 fetal alcohol syndrome 11.7
3 glandular tularemia 10.2 GP2 SNAP25
4 acromegaloid hypertrichosis syndrome 10.1 F11 F8
5 social phobia 10.1 F2 F8
6 autonomic neuropathy 10.1 F2 F8
7 bullous skin disease 10.1 F2 F8
8 neuroaxonal dystrophy 10.1 F2 F8
9 lynch syndrome 10.1 F2 F8
10 infiltrating ureter transitional cell carcinoma 10.0 F2 F8
11 hemarthrosis 10.0 F2 F3
12 influenza 10.0 F2 F3
13 pancreatic ductal carcinoma 10.0 F2 F3
14 chorioretinal scar 10.0 F2 F3
15 hendra virus infection 10.0 F2 F3
16 mixed hepatoblastoma 10.0 F2 F3
17 prostatic hypertrophy 10.0 F2 F3
18 dmd-related dilated cardiomyopathy 10.0 F2 F3
19 spinal cord lipoma 10.0 F2 F3
20 sporotrichosis 10.0 F2 F3
21 midline cystocele 10.0 F2 F3
22 chronic inflammatory demyelinating polyneuritis 10.0 F2 F3
23 seminoma 10.0 F2 F3
24 brain stem cancer 10.0 F2 F3
25 ductal carcinoma in situ 10.0 F2 F3
26 epstein-barr virus hepatitis 10.0 F2 F3
27 arcus senilis 10.0 F11 F3
28 hypertrichosis 10.0 F3 F8
29 blepharoconjunctivitis 10.0 F2 F3
30 intestinal disaccharidase deficiency 9.9 F2 F3
31 mobitz type ii atrioventricular block 9.9 F2 F3
32 inherited blood coagulation disease 9.9 F3 F8
33 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 9.9 F2 F3
34 artery disease 9.9 F2 F3
35 birth defects 9.9
36 red color blindness 9.9 F2 F3
37 multiple mitochondrial dysfunctions syndrome 9.9 F3 F8
38 prostatic cyst 9.9 F11 F8
39 hereditary alpha tryptasemia syndrome 9.9 F2 F3
40 central retinal artery occlusion 9.9 F2 F3
41 zika virus congenital syndrome 9.9 F3 F8
42 capillary hemangioma 9.9 F2 F3
43 thyroid cancer, anaplastic 9.9 F3 F8
44 uterine corpus cancer 9.8 F2 F3
45 oguchi disease-2 9.8 F11 F2 F3
46 hennekam lymphangiectasia-lymphedema syndrome 2 9.8 F2 F3
47 acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia 9.8 F11 F3 F8
48 freiberg's disease 9.8 F2 F3 F8
49 alpha-2-macroglobulin deficiency 9.8 F2 F3 F8
50 acrodysplasia scoliosis 9.8 F11 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 F11 F2 F3 FGFR3 SNAP25 SV2A
2 normal MP:0002873 9.43 F2 F3 FGFR3 GP2 SNAP25 SV2A
3 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):

(show top 50) (show all 55)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 2 64-17-5 702
2
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
4
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
5
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
6 Anti-Infective Agents Phase 2
7 Anti-Infective Agents, Local Phase 2
8 Antioxidants Phase 2
9 Central Nervous System Depressants Phase 2
10 Liver Extracts Phase 2
11 Peripheral Nervous System Agents Phase 2
12 Antiemetics Phase 2
13 Anti-Inflammatory Agents Phase 2
14 Antineoplastic Agents, Hormonal Phase 2
15 Autonomic Agents Phase 2
16 Gastrointestinal Agents Phase 2
17 glucocorticoids Phase 2
18 Hormone Antagonists Phase 2
19 Hormones Phase 2
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
21 Methylprednisolone acetate Phase 2
22 Methylprednisolone Hemisuccinate Phase 2
23 Neuroprotective Agents Phase 2
24 Prednisolone acetate Phase 2
25 Prednisolone hemisuccinate Phase 2
26 Prednisolone phosphate Phase 2
27 Protective Agents Phase 2
28 Cathartics Phase 2
29 Laxatives Phase 2
30 methionine Nutraceutical Phase 2
31
Gabapentin Approved, Investigational 60142-96-3 3446
32
Dopamine Approved 51-61-6, 62-31-7 681
33
Methylphenidate Approved, Investigational 113-45-1 4158
34
Naltrexone Approved, Investigational, Vet_approved 16590-41-3 5360515
35
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
36 Analgesics
37 Anti-Anxiety Agents
38 Anticonvulsants
39 Antimanic Agents
40 Antiparkinson Agents
41 calcium channel blockers
42 Calcium, Dietary
43 Excitatory Amino Acid Antagonists
44 Excitatory Amino Acids
45 GABA Agents
46
gamma-Aminobutyric Acid 56-12-2 119
47 Neurotransmitter Agents
48 Psychotropic Drugs
49 Tranquilizing Agents
50 Central Nervous System Stimulants

Interventional clinical trials:


id Name Status NCT ID Phase
1 Antioxidant Replacement Therapy in Patients With Alcohol Abuse Completed NCT00936000 Phase 2
2 Randomized, Controlled Trial of S-adenosylmethionine in Alcoholic Liver Disease Completed NCT00851981 Phase 2
3 Selonsertib in Combination With Prednisolone Versus Prednisolone Alone in Participants With Severe Alcoholic Hepatitis (AH) Recruiting NCT02854631 Phase 2
4 Trial of Obeticholic Acid in Patients With Moderately Severe Alcoholic Hepatitis (AH) Recruiting NCT02039219 Phase 2
5 Reducing Alcohol Exposed Pregnancy Risk: EARLY Randomized Controlled Trial Completed NCT01446653
6 Pharmacotherapy and Mechanisms of Sleep Disturbance in Alcohol Dependence Completed NCT01014533
7 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
8 Control of Cognition Active, not recruiting NCT01993108

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:

39
Bone

Publications for Alcohol-Related Birth Defect

Articles related to Alcohol-Related Birth Defect:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.63 F11 F2 F3 F8 FGFR3 GP2
2 plasma membrane GO:0005886 9.28 F11 F2 F3 F8 FGFR3 GP2
3 synaptic vesicle GO:0008021 9.13 SNAP25 SV2A SV2C

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

id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.46 F11 F2 F3 F8
2 neurotransmitter transport GO:0006836 9.37 SV2A SV2C
3 acute-phase response GO:0006953 9.32 F2 F8
4 regulation of blood coagulation GO:0030193 9.26 F11 F2
5 blood coagulation, intrinsic pathway GO:0007597 9.13 F11 F2 F8
6 hemostasis GO:0007599 8.92 F11 F2 F3 F8

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

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.92 F11 F2 F3 F8

Sources for Alcohol-Related Birth Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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