MCID: VLP001
MIFTS: 35

Valproate Embryopathy, Susceptibility to malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Valproate Embryopathy, Susceptibility to

Aliases & Descriptions for Valproate Embryopathy, Susceptibility to:

Name: Valproate Embryopathy, Susceptibility to 54
Fetal Valproate Syndrome 12 50 56 14 69
Fetal Valproic Acid Syndrome 12 56
Embryofoetal Valproic Acid Syndrome 50
Valproic Acid Antenatal Infection 42
Valproic Acid Fetal Effects from 50
Valproic Acid Embryopathy 50

Characteristics:

Orphanet epidemiological data:

56
fetal valproate syndrome
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

OMIM 54 609442
Disease Ontology 12 DOID:0060471
MeSH 42 C536525
NCIt 47 C98930
SNOMED-CT 64 17231009 205792006
Orphanet 56 ORPHA1906
MESH via Orphanet 43 C536525
ICD10 via Orphanet 34 Q86.8
UMLS via Orphanet 70 C0236026
UMLS 69 C0236026

Summaries for Valproate Embryopathy, Susceptibility to

NIH Rare Diseases : 50 fetal valproate syndrome (fvs) is a rare condition that may occur when a baby is exposed to valproic acid during pregnancy. valproic acid is a medication that is often used to treat epilepsy, bipolar disorder, and migraines. many babies who are exposed to this medication are born healthy with normal growth and development; however, studies have found that women who take valproic acid have a greater chance of having a baby with a major birth defect or other health problems. signs and symptoms of fvs vary from person to person and may include characteristic facial features, neural tube defects, congenital heart defects, cleft lip and/or palate, genital abnormalities, limb malformations, and developmental delay. treatment is based on the signs and symptoms present. last updated: 5/22/2017

MalaCards based summary : Valproate Embryopathy, Susceptibility to, also known as fetal valproate syndrome, is related to hemorrhagic destruction of the brain, subependymal calcification, and cataracts and ovarian mucinous adenocarcinoma, and has symptoms including short nose, long philtrum and epicanthus. An important gene associated with Valproate Embryopathy, Susceptibility to is CD96 (CD96 Molecule), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Hedgehog Pathway. Affiliated tissues include heart, and related phenotypes are cellular and behavior/neurological

Disease Ontology : 12 A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.

Description from OMIM: 609442

Related Diseases for Valproate Embryopathy, Susceptibility to

Diseases related to Valproate Embryopathy, Susceptibility to via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 9.9 CD96 LRP2 SHH
2 ovarian mucinous adenocarcinoma 9.7 BDNF EPHX1 GRIN2A GRIN2B
3 mucopolysaccharidosis is 9.7 BDNF GRIN2A GRIN2B HDAC1
4 neonatal period electroclinical syndrome 9.7 BDNF GRIN2A GRIN2B SHH
5 polydactyly 9.7
6 patent ductus arteriosus 9.7
7 multicystic dysplastic kidney 9.7
8 ectrodactyly-polydactyly 7.8 ASCL1 BCL2L1 BDNF CAT CCNA2 CD96

Graphical network of the top 20 diseases related to Valproate Embryopathy, Susceptibility to:



Diseases related to Valproate Embryopathy, Susceptibility to

Symptoms & Phenotypes for Valproate Embryopathy, Susceptibility to

Clinical features from OMIM:

609442

Human phenotypes related to Valproate Embryopathy, Susceptibility to:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short nose 56 32 Very frequent (99-80%) HP:0003196
2 long philtrum 56 32 Very frequent (99-80%) HP:0000343
3 epicanthus 56 32 Very frequent (99-80%) HP:0000286
4 depressed nasal ridge 56 32 Very frequent (99-80%) HP:0000457
5 narrow mouth 56 32 Very frequent (99-80%) HP:0000160
6 downturned corners of mouth 56 32 Very frequent (99-80%) HP:0002714
7 thin vermilion border 56 32 Very frequent (99-80%) HP:0000233
8 omphalocele 56 32 Very frequent (99-80%) HP:0001539

MGI Mouse Phenotypes related to Valproate Embryopathy, Susceptibility to:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 SHH WNT1 ASCL1 BCL2L1 BDNF CAT
2 behavior/neurological MP:0005386 10.26 ASCL1 BCL2L1 BDNF GRIN2A GRIN2B HDAC1
3 mortality/aging MP:0010768 10.18 HDAC1 HES5 LRP2 OTX2 PARP1 SHH
4 growth/size/body region MP:0005378 10.17 ASCL1 BCL2L1 BDNF OTX2 PARP1 RBM8A
5 endocrine/exocrine gland MP:0005379 10.11 ASCL1 BCL2L1 BDNF HDAC1 HES5 LRP2
6 nervous system MP:0003631 10.1 ASCL1 BCL2L1 BDNF GRIN2A GRIN2B HES5
7 embryo MP:0005380 10.08 CCNA2 HDAC1 HES5 LRP2 OTX2 PARP1
8 craniofacial MP:0005382 10.04 HES5 LRP2 OTX2 SHH WNT1 ASCL1
9 hearing/vestibular/ear MP:0005377 9.95 BDNF HES5 LRP2 OTX2 PARP1 SHH
10 no phenotypic analysis MP:0003012 9.86 HDAC1 HES5 LRP2 PARP1 SHH ASCL1
11 respiratory system MP:0005388 9.76 ASCL1 BDNF HDAC1 HES5 LRP2 OTX2
12 taste/olfaction MP:0005394 9.35 ASCL1 BDNF HES5 OTX2 SHH
13 vision/eye MP:0005391 9.23 ASCL1 BDNF GSR HDAC1 HES5 LRP2

Drugs & Therapeutics for Valproate Embryopathy, Susceptibility to

Search Clinical Trials , NIH Clinical Center for Valproate Embryopathy, Susceptibility to

Cochrane evidence based reviews: valproic acid antenatal infection

Genetic Tests for Valproate Embryopathy, Susceptibility to

Anatomical Context for Valproate Embryopathy, Susceptibility to

MalaCards organs/tissues related to Valproate Embryopathy, Susceptibility to:

39
Heart

Publications for Valproate Embryopathy, Susceptibility to

Variations for Valproate Embryopathy, Susceptibility to

Expression for Valproate Embryopathy, Susceptibility to

Search GEO for disease gene expression data for Valproate Embryopathy, Susceptibility to.

Pathways for Valproate Embryopathy, Susceptibility to

GO Terms for Valproate Embryopathy, Susceptibility to

Cellular components related to Valproate Embryopathy, Susceptibility to according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 NMDA selective glutamate receptor complex GO:0017146 8.62 GRIN2A GRIN2B

Biological processes related to Valproate Embryopathy, Susceptibility to according to GeneCards Suite gene sharing:

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.95 ASCL1 HDAC1 HES5 OTX2 PARP1 SHH
2 negative regulation of apoptotic process GO:0043066 9.89 ASCL1 BCL2L1 CAT HDAC1 SHH
3 positive regulation of cell proliferation GO:0008284 9.88 BCL2L1 HDAC1 HES5 SHH WNT1
4 positive regulation of transcription, DNA-templated GO:0045893 9.85 CCNA2 HDAC1 HES5 OTX2 SHH WNT1
5 response to ethanol GO:0045471 9.75 CAT GRIN2A GRIN2B
6 cellular response to oxidative stress GO:0034599 9.7 CAT GSR PARP1
7 forebrain development GO:0030900 9.63 LRP2 OTX2 SHH
8 neurogenesis GO:0022008 9.61 ASCL1 GRIN2A WNT1
9 neuroblast proliferation GO:0007405 9.57 ASCL1 SHH
10 negative regulation of myotube differentiation GO:0010832 9.56 BDNF HDAC1
11 glutamate receptor signaling pathway GO:0007215 9.55 GRIN2A GRIN2B
12 myotube differentiation GO:0014902 9.54 SHH WNT1
13 spinal cord association neuron differentiation GO:0021527 9.51 ASCL1 WNT1
14 midbrain development GO:0030901 9.5 OTX2 SHH WNT1
15 positive regulation of Notch signaling pathway GO:0045747 9.43 ASCL1 HES5 WNT1
16 neuron fate commitment GO:0048663 9.33 ASCL1 SHH WNT1
17 dopaminergic neuron differentiation GO:0071542 9.13 OTX2 SHH WNT1
18 oligodendrocyte development GO:0014003 8.8 ASCL1 HES5 SHH

Molecular functions related to Valproate Embryopathy, Susceptibility to according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ionotropic glutamate receptor activity GO:0004970 9.26 GRIN2A GRIN2B
2 extracellular-glutamate-gated ion channel activity GO:0005234 9.16 GRIN2A GRIN2B
3 morphogen activity GO:0016015 8.96 SHH WNT1
4 NMDA glutamate receptor activity GO:0004972 8.62 GRIN2A GRIN2B

Sources for Valproate Embryopathy, Susceptibility to

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
Content
Loading form....