FVS
MCID: VLP002
MIFTS: 47

Valproate Embryopathy (FVS)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Valproate Embryopathy

MalaCards integrated aliases for Valproate Embryopathy:

Name: Valproate Embryopathy 58
Fetal Valproate Syndrome 58 12 54 60 15 74
Fetal Valproic Acid Syndrome 12 54 60
Fvs 58 54
Valproate Embryopathy, Susceptibility to 58
Susceptibility to Valproate Embryopathy 54
Valproic Acid Antenatal Infection 45
Fetal Valproate Syndrome; Fvs 58
Valproic Acid Embryopathy 54

Characteristics:

Orphanet epidemiological data:

60
fetal valproate syndrome
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060471
OMIM 58 609442
MeSH 45 C536525
NCIt 51 C98930
SNOMED-CT 69 17231009
MESH via Orphanet 46 C536525
ICD10 via Orphanet 35 Q86.8
UMLS via Orphanet 75 C0236026
Orphanet 60 ORPHA1906
UMLS 74 C0236026

Summaries for Valproate Embryopathy

NIH Rare Diseases : 54 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 OTX2 (Orthodenticle Homeobox 2), and among its related pathways/superpathways are Gastric cancer and Ras signaling pathway. Affiliated tissues include kidney and eye, and related phenotypes are short nose and long philtrum

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 80)
# Related Disease Score Top Affiliating Genes
1 factor v and factor viii, combined deficiency of, 2 11.9
2 factor v and factor viii, combined deficiency of, 1 11.4
3 thrombosis 10.4
4 thrombophilia due to thrombin defect 10.3
5 bile acid synthesis defect, congenital, 1 10.2 GRIN2A GRIN2B
6 hepatitis 10.2
7 lymphoma 10.2
8 rabies 10.2
9 breast cancer 10.1
10 leukemia 10.1
11 melanoma 10.1
12 thrombophilia 10.1
13 epilepsy, focal, with speech disorder and with or without mental retardation 10.1 GRIN2A GRIN2B
14 septooptic dysplasia 10.1
15 hepatitis c virus 10.0
16 tetanus 10.0
17 hepatitis c 10.0
18 t-cell leukemia 10.0
19 autism 10.0
20 von economo's disease 10.0 GRIN2B GSR
21 ocular dominance 10.0 BDNF GRIN2A GRIN2B
22 thrombophilia due to activated protein c resistance 10.0
23 adult t-cell leukemia 10.0
24 diphtheria 10.0
25 mouth disease 10.0
26 polycythemia 10.0
27 pulmonary embolism 10.0
28 toxic encephalopathy 9.9 BDNF GRIN2A GRIN2B
29 disease of mental health 9.9 BDNF GRIN2A GRIN2B
30 hernia, hiatus 9.8
31 renal dysplasia, cystic 9.8
32 polydactyly 9.8
33 patent ductus arteriosus 1 9.8
34 kleefstra syndrome 9.8
35 multicystic dysplastic kidney 9.8
36 arteries, anomalies of 9.8
37 bladder cancer 9.8
38 hepatocellular carcinoma 9.8
39 factor viii deficiency 9.8
40 ovarian cancer 9.8
41 pityriasis rubra pilaris 9.8
42 prostate cancer 9.8
43 lung cancer 9.8
44 pancreatic cancer 9.8
45 rothmund-thomson syndrome 9.8
46 hemophilia a 9.8
47 horns in sheep 9.8
48 prostate cancer, hereditary, 8 9.8
49 ovarian cancer 1 9.8
50 myocardial infarction 9.8

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



Diseases related to Valproate Embryopathy

Symptoms & Phenotypes for Valproate Embryopathy

Human phenotypes related to Valproate Embryopathy:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
2 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
3 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
4 depressed nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000457
5 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
6 downturned corners of mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0002714
7 thin vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0000233
8 omphalocele 60 33 hallmark (90%) Very frequent (99-80%) HP:0001539

Clinical features from OMIM:

609442

GenomeRNAi Phenotypes related to Valproate Embryopathy according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased caspase 3/7 activity GR00318-A 8.8 GRIN2A GRIN2B PREP

MGI Mouse Phenotypes related to Valproate Embryopathy:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 ASCL1 BCL2L1 BDNF CAT CCNA2 HDAC1
2 behavior/neurological MP:0005386 10.19 ASCL1 BCL2L1 BDNF GRIN2A GRIN2B HDAC1
3 growth/size/body region MP:0005378 10.18 ASCL1 BCL2L1 BDNF DPP4 EGF GRIN2B
4 endocrine/exocrine gland MP:0005379 10.13 ASCL1 BCL2L1 BDNF DPP4 EGF HDAC1
5 mortality/aging MP:0010768 10.1 ASCL1 BCL2L1 BDNF CAT CCNA2 GRIN2B
6 craniofacial MP:0005382 10 ASCL1 BDNF HDAC1 HES5 OTX2 SHH
7 nervous system MP:0003631 10 ASCL1 BCL2L1 BDNF GRIN2A GRIN2B HES5
8 integument MP:0010771 9.91 ASCL1 BCL2L1 BDNF EGF GRIN2A HDAC1
9 respiratory system MP:0005388 9.7 ASCL1 BDNF HDAC1 HES5 OTX2 SHH
10 taste/olfaction MP:0005394 9.35 ASCL1 BDNF HES5 OTX2 SHH
11 vision/eye MP:0005391 9.23 ASCL1 BDNF EGF GSR HDAC1 HES5

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:

42
Kidney, Eye

Publications for Valproate Embryopathy

Articles related to Valproate Embryopathy:

(show all 45)
# Title Authors Year
1
Fetal valproate syndrome as a phenocopy of Kleefstra syndrome. ( 30151876 )
2018
2
Fetal valproate syndrome: the Irish experience. ( 29396778 )
2018
3
Intellectual functioning in clinically confirmed fetal valproate syndrome. ( 30453023 )
2018
4
Fetal Valproate Syndrome. ( 27422007 )
2017
5
Activities of Proline-Specific Proteinases in the Serum and Cerebrospinal Fluid of Rats with the Fetal Valproate Syndrome. ( 28948551 )
2017
6
Fetal Valproate Syndrome - Still a Problem Today! ( 29073690 )
2017
7
New findings in fetal valproate syndrome: hiatal hernia, gastric volvulus and ectopic kidney. ( 27012229 )
2016
8
Prenatal sonographic diagnosis of fetal valproate syndrome: a case report. ( 27809899 )
2016
9
Fetal Valproate Syndrome with Limb Defects: An Indian Case Report. ( 28003925 )
2016
10
Research of the rat's behavior using fetal valproate syndrome model. ( 26531578 )
2015
11
REMOVED: Research of the rat's behavior using fetal valproate syndrome model. ( 29887121 )
2015
12
Fetal valproate syndrome. ( 25400349 )
2014
13
Is coloboma a feature of fetal valproate syndrome? ( 24263622 )
2014
14
Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome. ( 24135485 )
2014
15
Difficult airway in an infant with fetal valproate syndrome. ( 24292219 )
2013
16
An anomalous left superior venacava draining into left atrium in association with fetal valproate syndrome. ( 22678520 )
2013
17
Epigenetic changes and disturbed neural development in a human embryonic stem cell-based model relating to the fetal valproate syndrome. ( 22723015 )
2012
18
Severe fetal valproate syndrome: combination of complex cardiac defect, multicystic dysplastic kidney, and trigonocephaly. ( 21291342 )
2011
19
Fetal valproate syndrome in a 2-month-old male infant. ( 20427941 )
2010
20
A case of fetal valproate syndrome with new features expanding the phenotype. ( 19198722 )
2009
21
A case of fetal valproate syndrome with new features expanding the phenotype. ( 19618023 )
2009
22
Early intervention for the ocular and neurodevelopmental sequelae of Fetal Valproate Syndrome. ( 17688650 )
2007
23
Fetal valproate syndrome. ( 17090909 )
2006
24
Valproate embryopathy: clinical and cognitive profile in 5 siblings. ( 15669094 )
2005
25
Patent ductus arteriosus in fetal valproate syndrome. ( 14510093 )
2003
26
Nuchal edema as the first sign of fetal valproate syndrome. ( 12224082 )
2002
27
Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility. ( 12196666 )
2002
28
Fetal valproate syndrome and autism: additional evidence of an association. ( 11263692 )
2001
29
Fatal cardiac malformation in fetal valproate syndrome. ( 11758141 )
2001
30
Reduced corneal sensation and severe dry eyes in a child with fetal valproate syndrome. ( 11702984 )
2001
31
Anomalous right pulmonary artery origins in association with the fetal valproate syndrome. ( 9950375 )
1999
32
A child with a DIC (15p; 22p) centric fusion and fetal Valproate syndrome. ( 10728044 )
1999
33
A male with fetal valproate syndrome and autism. ( 9344057 )
1997
34
Fetal valproate embryopathy in twins: genetic modification of the response to a teratogen. ( 9125345 )
1996
35
Fetal valproate syndrome with reduction deformity of limb. ( 7754767 )
1995
36
Fetal valproate syndrome. ( 8544193 )
1995
37
Fetal valproate syndrome: clinical and neuro-developmental features in two sibling pairs. ( 7512516 )
1994
38
Preaxial polydactyly in the fetal valproate syndrome. ( 1473550 )
1992
39
The fetal valproate syndrome. ( 1925511 )
1991
40
The fetal valproate syndrome. ( 3148280 )
1988
41
Verification of the fetal valproate syndrome phenotype. ( 3125743 )
1988
42
Fetal valproate syndrome: is there a recognisable phenotype? ( 3123693 )
1987
43
Prognosis in fetal valproate syndrome. ( 3112355 )
1987
44
Fetal valproate syndrome. ( 3087169 )
1986
45
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 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.85 ASCL1 BCL2L1 CAT HDAC1 SHH WNT1
2 response to ethanol GO:0045471 9.78 CAT GRIN2A GRIN2B
3 neuron differentiation GO:0030182 9.76 ASCL1 HDAC1 HES5 WNT1
4 canonical Wnt signaling pathway GO:0060070 9.71 EGF SHH WNT1
5 neurogenesis GO:0022008 9.67 ASCL1 GRIN2A WNT1
6 positive regulation of Notch signaling pathway GO:0045747 9.65 ASCL1 HES5 WNT1
7 negative regulation of intrinsic apoptotic signaling pathway GO:2001243 9.63 BCL2L1 HDAC1
8 ionotropic glutamate receptor signaling pathway GO:0035235 9.63 GRIN2A GRIN2B
9 negative regulation of cholesterol efflux GO:0090370 9.62 EGF SHH
10 neuroblast proliferation GO:0007405 9.62 ASCL1 SHH
11 positive regulation of oligodendrocyte differentiation GO:0048714 9.61 HDAC1 SHH
12 midbrain development GO:0030901 9.61 OTX2 SHH WNT1
13 negative regulation of myotube differentiation GO:0010832 9.6 BDNF HDAC1
14 glutamate receptor signaling pathway GO:0007215 9.58 GRIN2A GRIN2B
15 myotube differentiation GO:0014902 9.57 SHH WNT1
16 spinal cord association neuron differentiation GO:0021527 9.56 ASCL1 WNT1
17 regulation of protein localization to cell surface GO:2000008 9.55 BDNF EGF
18 excitatory chemical synaptic transmission GO:0098976 9.52 GRIN2A GRIN2B
19 calcium ion transmembrane import into cytosol GO:0097553 9.51 GRIN2A GRIN2B
20 neuron fate commitment GO:0048663 9.5 ASCL1 SHH WNT1
21 positive regulation of transcription, DNA-templated GO:0045893 9.5 CCNA2 EGF HDAC1 HES5 OTX2 SHH
22 oligodendrocyte development GO:0014003 9.43 ASCL1 HES5 SHH
23 positive regulation of cerebellar granule cell precursor proliferation GO:0021940 9.4 EGF SHH
24 dopaminergic neuron differentiation GO:0071542 9.33 OTX2 SHH WNT1
25 positive regulation of cell proliferation GO:0008284 9.23 BCL2L1 CCNA2 DPP4 EGF HDAC1 HES5
26 positive regulation of transcription by RNA polymerase II GO:0045944 10.07 ASCL1 HDAC1 HES5 OTX2 SHH WNT1
27 multicellular organism development GO:0007275 10.06 ASCL1 GRIN2B HES5 OTX2 SHH WNT1

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.5 EGF GRIN2A GRIN2B
2 ionotropic glutamate receptor activity GO:0004970 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....