MCID: ALC001
MIFTS: 30

Alcohol-Related Birth Defect

Categories: 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 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 liver, 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 77)
id Related Disease Score Top Affiliating Genes
1 fetal alcohol spectrum disorder 11.7
2 fetal alcohol syndrome 11.6
3 acro-pectoro-renal field defect 10.3 F11 F8
4 infant botulism 10.2 GP2 SNAP25 SV2C
5 social phobia 10.1 F2 F8
6 autonomic neuropathy 10.1 F2 F8
7 rheumatoid lung disease 10.1 F2 F8
8 intestinal pseudo-obstruction 10.1 F2 F8
9 prostatic cyst 10.1 F11 F8
10 neuroaxonal dystrophy 10.0 F2 F8
11 rete ovarii adenoma 10.0 F2 F8
12 arcus senilis 10.0 F11 F3
13 hyperthyroidism 10.0 F2 F3
14 pyridoxine deficiency anemia 9.9 F2 F3
15 46,xy ovotesticular disorder of sex development 9.9 F2 F3
16 myiasis 9.9 F2 F3
17 testicular gonadoblastoma 9.9 F2 F3
18 rectum neuroendocrine neoplasm 9.9 F2 F3
19 midline cystocele 9.9 F2 F3
20 brain stem glioma 9.9 F2 F3
21 birth defects 9.9
22 sporotrichosis 9.9 F2 F3
23 central nervous system germ cell tumor 9.9 F2 F3
24 chronic inflammatory demyelinating polyneuritis 9.9 F2 F3
25 lymphatic system cancer 9.9 F2 F3
26 lethal congenital contracture syndrome 9.9 F2 F3
27 lujo hemorrhagic fever 9.9 F2 F3
28 spinal cord lipoma 9.9 F2 F3
29 congenital syphilis 9.9 F2 F3
30 central retinal artery occlusion 9.8 F2 F3
31 red color blindness 9.8 F2 F3
32 hepadnavirus infection 9.8 F2 F3
33 microcephaly 8, primary, autosomal recessive 9.8 F2 F3
34 rheumatic heart disease 9.8 F2 F3
35 femoral neuropathy 9.8 F3 F8
36 capillary hemangioma 9.8 F2 F3
37 multiple congenital anomalies mental retardation, growth failure and cleft lip palate 9.8 F3 F8
38 blepharoconjunctivitis 9.7 F2 F3
39 thrombomodulin anomalies, familial 9.7 F2 F3
40 cervix squamous papilloma 9.7 F2 F3
41 thumb stiff brachydactyly mental retardation 9.7 F3 F8
42 hemolytic-uremic syndrome 9.7 F2 F3
43 dentinogenesis imperfecta 9.6 F2 F3
44 immunodeficiency 21 9.6 F2 F8
45 hidradenoma 9.6 F2 F3
46 spinocerebellar ataxia 27 9.6 F11 F2 F3
47 budd-chiari syndrome 9.5 F2 F3
48 granulomatous hepatitis 9.5 F2 F3
49 acquired von willebrand syndrome 9.5 F11 F3 F8
50 acquired pure red cell aplasia 9.5 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 FGFR3 GP2 SNAP25 SV2A F2 F3
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 all 27)
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 Anti-Infective Agents Phase 2
6 Anti-Infective Agents, Local Phase 2
7 Antioxidants Phase 2
8 Central Nervous System Depressants Phase 2
9 Liver Extracts Phase 2
10 Antiemetics Phase 2
11 Anti-Inflammatory Agents Phase 2
12 Antineoplastic Agents, Hormonal Phase 2
13 Autonomic Agents Phase 2
14 Gastrointestinal Agents Phase 2
15 glucocorticoids Phase 2
16 Hormone Antagonists Phase 2
17 Hormones Phase 2
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
19 Methylprednisolone acetate Phase 2
20 Methylprednisolone Hemisuccinate Phase 2
21 Neuroprotective Agents Phase 2
22 Peripheral Nervous System Agents Phase 2
23 Prednisolone acetate Phase 2
24 Prednisolone hemisuccinate Phase 2
25 Prednisolone phosphate Phase 2
26 Protective Agents Phase 2
27 methionine Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
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 Selonsertib;Prednisolone;Placebo
4 Reducing Alcohol Exposed Pregnancy Risk: EARLY Randomized Controlled Trial Completed NCT01446653
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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, Liver

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 8.8 F11 F2 F3

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....