MCID: VLP002
MIFTS: 47

Valproate Embryopathy

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Valproate Embryopathy

MalaCards integrated aliases for Valproate Embryopathy:

Name: Valproate Embryopathy 57
Fetal Valproate Syndrome 57 12 53 59 15 73
Fetal Valproic Acid Syndrome 12 53 59
Fvs 57 53
Valproate Embryopathy, Susceptibility to 57
Susceptibility to Valproate Embryopathy 53
Valproic Acid Antenatal Infection 44
Fetal Valproate Syndrome; Fvs 57
Valproic Acid Embryopathy 53

Characteristics:

Orphanet epidemiological data:

59
fetal valproate syndrome
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

OMIM 57 609442
Disease Ontology 12 DOID:0060471
MeSH 44 C536525
NCIt 50 C98930
SNOMED-CT 68 17231009 205792006
Orphanet 59 ORPHA1906
MESH via Orphanet 45 C536525
ICD10 via Orphanet 34 Q86.8
UMLS via Orphanet 74 C0236026
UMLS 73 C0236026

Summaries for Valproate Embryopathy

NIH Rare Diseases : 53 Fetal valproate syndrome(FVS) may occur if a developing baby is exposed to valproic acid during pregnancy. Valproic acid, also known as valproate, is a medication that is often used to treat epilepsy, bipolar disorder, and migraines. Many babies who are exposed to this medication during pregnancy are born healthy with normal growth and development. However, studies have found that women who take valproate during pregnancy have a greater chance of having a baby with a major birth defect or other health problem. Symptoms of FVS vary but may include characteristic facial features, spina bifida, congenital heart defects, cleft lip and/or cleft palate, genital abnormalities, skeletal abnormalities, and developmental delay. A child exposed to valproic acid may be at a higher risk for learning and behavioral problems. Although there is no cure for FVS, many of the possible signs and symptoms of FVS do have treatments or therapies available. Early intervention programs may also be helpful. The U.S. Food and Drug Administration (FDA) advises that valproate and related products should not be taken by women for the prevention of migraine headaches during pregancy. With regard to valproate use in pregnant women with epilepsy or bipolar disorder, valproate products should only be prescribed if other medications are not effective in treating the condition or are otherwise unacceptable. However, it is important to note that women who are pregnant and taking a valproate medication should not stop their medication but should talk to their doctor or other trusted medical professional immediately. Stopping valproate treatment suddenly can cause serious and life-threatening medical problems to the woman or her baby. For example, the sudden discontinuation of valproate in pregnant women with seizures can result in persistent seizures, which can cause harm, including death, to the mother and/or the unborn baby. The FDA suggests a pregnant woman taking valproate or other anti-seizure medication should talk to her doctor or other trusted medical professional about registering with the North American Antiepileptic Drug Pregnancy Registry. The purpose of this registry is to collect information about the safety of anti-seizure medications during pregnancy. A pregnant woman taking anti-seizure medication can enroll in this registry by calling 1-888-233-2334. You can read more about the registry on the North American AED (Antiepileptic Drug) Pregnancy Registry website.It is suggested that physicians refer pregnant patients who are using valproate to register for an antiepileptic drug registration program called North American Antiepileptic Drug (NAAED) Pregnancy Registry: http://www.aedpregnancyregistry.org/

MalaCards based summary : Valproate Embryopathy, also known as fetal valproate syndrome, is related to factor v and factor viii, combined deficiency of, 2 and factor v and factor viii, combined deficiency of, 1. An important gene associated with Valproate Embryopathy is CD96 (CD96 Molecule), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. Affiliated tissues include heart, kidney and eye, and related phenotypes are narrow mouth and thin vermilion border

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

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 factor v and factor viii, combined deficiency of, 2 11.7
2 factor v and factor viii, combined deficiency of, 1 11.2
3 thrombosis 10.2
4 epilepsy, focal, with speech disorder and with or without mental retardation 10.1 GRIN2A GRIN2B
5 thrombophilia due to thrombin defect 10.0
6 hepatitis 10.0
7 melanoma 10.0
8 thrombophilia 10.0
9 von economo's disease 9.9 GRIN2B GSR
10 septooptic dysplasia 9.9
11 lymphoma 9.9
12 autism 9.9
13 ocular dominance 9.8 BDNF GRIN2A GRIN2B
14 breast cancer 9.8
15 hepatitis c virus 9.8
16 rabies 9.8
17 diphtheria 9.8
18 hepatitis c 9.8
19 toxic encephalopathy 9.8 BDNF GRIN2A GRIN2B
20 hernia, hiatus 9.7
21 renal dysplasia, cystic 9.7
22 polydactyly 9.7
23 patent ductus arteriosus 1 9.7
24 multicystic dysplastic kidney 9.7
25 disease of mental health 9.7 BDNF GRIN2A GRIN2B
26 hepatocellular carcinoma 9.7
27 ovarian cancer 9.7
28 prostate cancer 9.7
29 lung cancer 9.7
30 ovarian cancer 1 9.7
31 myocardial infarction 9.7
32 acute myocardial infarction 9.7
33 arthritis 9.7
34 b-cell lymphomas 9.7
35 diabetes mellitus 9.7
36 leukemia 9.7
37 thalassemia 9.7
38 pre-eclampsia 9.7
39 western equine encephalitis 9.7
40 tetanus 9.7
41 eclampsia 9.7
42 prostatitis 9.7
43 viral hepatitis 9.7
44 thrombocytosis 9.7
45 cervicitis 9.7
46 hairy cell leukemia 9.7
47 cerebritis 9.7
48 protein c deficiency 9.7
49 infertility 9.7
50 thyroiditis 9.7

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



Diseases related to Valproate Embryopathy

Symptoms & Phenotypes for Valproate Embryopathy

Clinical features from OMIM:

609442

Human phenotypes related to Valproate Embryopathy:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
2 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
3 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
4 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
5 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
6 omphalocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0001539
7 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
8 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196

MGI Mouse Phenotypes related to Valproate Embryopathy:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 ASCL1 BCL2L1 BDNF CAT CCNA2 HDAC1
2 behavior/neurological MP:0005386 10.3 ASCL1 BCL2L1 BDNF GRIN2A GRIN2B HDAC1
3 growth/size/body region MP:0005378 10.25 RBM8A SHH ASCL1 BCL2L1 BDNF DPP4
4 mortality/aging MP:0010768 10.21 BDNF CAT CCNA2 GRIN2B HDAC1 HES5
5 endocrine/exocrine gland MP:0005379 10.16 ASCL1 BCL2L1 BDNF DPP4 HDAC1 HES5
6 nervous system MP:0003631 10.13 HES5 LRP2 OTX2 PARP1 PREP RBM8A
7 craniofacial MP:0005382 10.1 HES5 LRP2 OTX2 SHH WNT1 ASCL1
8 embryo MP:0005380 10.08 CCNA2 HDAC1 HES5 LRP2 OTX2 PARP1
9 hearing/vestibular/ear MP:0005377 9.95 BDNF HES5 LRP2 OTX2 PARP1 SHH
10 no phenotypic analysis MP:0003012 9.86 ASCL1 BDNF GRIN2B HDAC1 HES5 LRP2
11 respiratory system MP:0005388 9.76 SHH WNT1 ASCL1 BDNF HDAC1 HES5
12 taste/olfaction MP:0005394 9.35 ASCL1 BDNF HES5 OTX2 SHH
13 vision/eye MP:0005391 9.28 HES5 LRP2 OTX2 PARP1 SHH ASCL1

Drugs & Therapeutics for Valproate Embryopathy

Search Clinical Trials , NIH Clinical Center for Valproate Embryopathy

Cochrane evidence based reviews: valproic acid antenatal infection

Genetic Tests for Valproate Embryopathy

Anatomical Context for Valproate Embryopathy

MalaCards organs/tissues related to Valproate Embryopathy:

41
Heart, Kidney, Eye

Publications for Valproate Embryopathy

Articles related to Valproate Embryopathy:

(show all 35)
# Title Authors Year
1
New findings in fetal valproate syndrome: hiatal hernia, gastric volvulus and ectopic kidney. ( 27012229 )
2016
2
Research of the rat's behavior using fetal valproate syndrome model. ( 26531578 )
2015
3
Fetal valproate syndrome. ( 25400349 )
2014
4
Is coloboma a feature of fetal valproate syndrome? ( 24263622 )
2014
5
Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome. ( 24135485 )
2014
6
Difficult airway in an infant with fetal valproate syndrome. ( 24292219 )
2013
7
An anomalous left superior venacava draining into left atrium in association with fetal valproate syndrome. ( 22678520 )
2013
8
Epigenetic changes and disturbed neural development in a human embryonic stem cell-based model relating to the fetal valproate syndrome. ( 22723015 )
2012
9
Severe fetal valproate syndrome: combination of complex cardiac defect, multicystic dysplastic kidney, and trigonocephaly. ( 21291342 )
2011
10
Fetal valproate syndrome in a 2-month-old male infant. ( 20427941 )
2010
11
A case of fetal valproate syndrome with new features expanding the phenotype. ( 19198722 )
2009
12
A case of fetal valproate syndrome with new features expanding the phenotype. ( 19618023 )
2009
13
Early intervention for the ocular and neurodevelopmental sequelae of Fetal Valproate Syndrome. ( 17688650 )
2007
14
Fetal valproate syndrome. ( 17090909 )
2006
15
Valproate embryopathy: clinical and cognitive profile in 5 siblings. ( 15669094 )
2005
16
Patent ductus arteriosus in fetal valproate syndrome. ( 14510093 )
2003
17
Nuchal edema as the first sign of fetal valproate syndrome. ( 12224082 )
2002
18
Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility. ( 12196666 )
2002
19
Fetal valproate syndrome and autism: additional evidence of an association. ( 11263692 )
2001
20
Fatal cardiac malformation in fetal valproate syndrome. ( 11758141 )
2001
21
Reduced corneal sensation and severe dry eyes in a child with fetal valproate syndrome. ( 11702984 )
2001
22
Anomalous right pulmonary artery origins in association with the fetal valproate syndrome. ( 9950375 )
1999
23
A child with a DIC (15p; 22p) centric fusion and fetal Valproate syndrome. ( 10728044 )
1999
24
A male with fetal valproate syndrome and autism. ( 9344057 )
1997
25
Fetal valproate embryopathy in twins: genetic modification of the response to a teratogen. ( 9125345 )
1996
26
Fetal valproate syndrome with reduction deformity of limb. ( 7754767 )
1995
27
Fetal valproate syndrome. ( 8544193 )
1995
28
Fetal valproate syndrome: clinical and neuro-developmental features in two sibling pairs. ( 7512516 )
1994
29
Preaxial polydactyly in the fetal valproate syndrome. ( 1473550 )
1992
30
The fetal valproate syndrome. ( 1925511 )
1991
31
The fetal valproate syndrome. ( 3148280 )
1988
32
Verification of the fetal valproate syndrome phenotype. ( 3125743 )
1988
33
Fetal valproate syndrome: is there a recognisable phenotype? ( 3123693 )
1987
34
Fetal valproate syndrome. ( 3087169 )
1986
35
The fetal valproate syndrome. ( 6439041 )
1984

Variations for Valproate Embryopathy

Expression for Valproate Embryopathy

Search GEO for disease gene expression data for Valproate Embryopathy.

Pathways for Valproate Embryopathy

GO Terms for Valproate Embryopathy

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.35 DPP4 GRIN2A GRIN2B SHH WNT1
2 NMDA selective glutamate receptor complex GO:0017146 8.62 GRIN2A GRIN2B

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.98 ASCL1 HDAC1 HES5 OTX2 PARP1 SHH
2 negative regulation of apoptotic process GO:0043066 9.97 ASCL1 BCL2L1 CAT HDAC1 SHH
3 positive regulation of transcription, DNA-templated GO:0045893 9.85 CCNA2 HDAC1 HES5 OTX2 SHH WNT1
4 response to ethanol GO:0045471 9.77 CAT GRIN2A GRIN2B
5 positive regulation of cell proliferation GO:0008284 9.73 BCL2L1 DPP4 HDAC1 HES5 SHH WNT1
6 cellular response to oxidative stress GO:0034599 9.72 CAT GSR PARP1
7 forebrain development GO:0030900 9.69 LRP2 OTX2 SHH
8 neurogenesis GO:0022008 9.67 ASCL1 GRIN2A WNT1
9 neuroblast proliferation GO:0007405 9.59 ASCL1 SHH
10 negative regulation of myotube differentiation GO:0010832 9.58 BDNF HDAC1
11 positive regulation of Notch signaling pathway GO:0045747 9.58 ASCL1 HES5 WNT1
12 glutamate receptor signaling pathway GO:0007215 9.57 GRIN2A GRIN2B
13 locomotion GO:0040011 9.56 BDNF GRIN2A
14 spinal cord association neuron differentiation GO:0021527 9.54 ASCL1 WNT1
15 myotube differentiation GO:0014902 9.52 SHH WNT1
16 midbrain development GO:0030901 9.5 OTX2 SHH WNT1
17 excitatory chemical synaptic transmission GO:0098976 9.48 GRIN2A GRIN2B
18 calcium ion transmembrane import into cytosol GO:0097553 9.46 GRIN2A GRIN2B
19 neuron fate commitment GO:0048663 9.33 ASCL1 SHH WNT1
20 oligodendrocyte development GO:0014003 9.13 ASCL1 HES5 SHH
21 dopaminergic neuron differentiation GO:0071542 8.8 OTX2 SHH WNT1

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

# Name GO ID Score Top Affiliating Genes
1 ionotropic glutamate receptor activity GO:0004970 9.32 GRIN2A GRIN2B
2 extracellularly glutamate-gated ion channel activity GO:0005234 9.26 GRIN2A GRIN2B
3 morphogen activity GO:0016015 9.16 SHH WNT1
4 NMDA glutamate receptor activity GO:0004972 8.96 GRIN2A GRIN2B
5 glutamate-gated calcium ion channel activity GO:0022849 8.62 GRIN2A GRIN2B

Sources for Valproate Embryopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....