MCID: VLP001
MIFTS: 34

Valproate Embryopathy, Susceptibility to malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Valproate Embryopathy, Susceptibility to

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Sources:
11Disease Ontology, 13DISEASES, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Valproate Embryopathy, Susceptibility to:

Name: Valproate Embryopathy, Susceptibility to 52
Fetal Valproate Syndrome 11 48 54 13 68
Fetal Valproic Acid Syndrome 11 54
Embryofoetal Valproic Acid Syndrome 48
 
Valproic Acid Antenatal Infection 39
Valproic Acid Fetal Effects from 48
Valproic Acid Embryopathy 48

Characteristics:

Orphanet epidemiological data:

54
fetal valproate syndrome:
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

OMIM52 609442
Disease Ontology11 DOID:0060471
MeSH39 C536525
NCIt45 C98930
SNOMED-CT62 17231009, 205792006
Orphanet54 ORPHA1906
MESH via Orphanet40 C536525
ICD10 via Orphanet31 Q86.8
UMLS via Orphanet69 C0236026

Summaries for Valproate Embryopathy, Susceptibility to

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NIH Rare Diseases:48 Fetal valproate syndrome occurs when a baby develops signs and symptoms as a result of an exposure to valproic acid during fetal development.  Fetal exposure to valproic acid is associated with 2 to 3 times the general population risk for birth defects.  This results in roughly a 6 to 9% risk of having a child with a birth defect versus the general population risk of 2 to 3%.  Some children with this syndrome share common subtle facial characteristics, including thin arched eyebrows that may be spaced far apart, a wide nasal bridge, short nose with anteverted nostrils, thin upper lip, and smooth long philtrum (space between nose and lip). These features may become less prominent with time. Fetal valproate syndrome may also be associated with a wide range of other birth defects, as well as intellectual disability. In most cases the risks for a particular symptom or defect is not currently known. Last updated: 3/5/2010

MalaCards based summary: Valproate Embryopathy, Susceptibility to, also known as fetal valproate syndrome, is related to alcohol-related neurodevelopmental disorder and limb ischemia, and has symptoms including narrow mouth, thin vermilion border and epicanthus. An important gene associated with Valproate Embryopathy, Susceptibility to is CD96 (CD96 Molecule), and among its related pathways are AIF Pathway and Notch-mediated HES/HEY network. Related mouse phenotypes are taste/olfaction and craniofacial.

Disease Ontology:11 A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.

Description from OMIM:52 609442

Related Diseases for Valproate Embryopathy, Susceptibility to

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Graphical network of diseases related to Valproate Embryopathy, Susceptibility to:



Diseases related to valproate embryopathy, susceptibility to

Symptoms & Phenotypes for Valproate Embryopathy, Susceptibility to

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Clinical features from OMIM:

609442

Human phenotypes related to Valproate Embryopathy, Susceptibility to:

 64 54 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth64 54 hallmark (90%) Very frequent (99-80%) HP:0000160
2 thin vermilion border64 54 hallmark (90%) Very frequent (99-80%) HP:0000233
3 epicanthus64 54 hallmark (90%) Very frequent (99-80%) HP:0000286
4 long philtrum64 54 hallmark (90%) Very frequent (99-80%) HP:0000343
5 depressed nasal ridge64 54 hallmark (90%) Very frequent (99-80%) HP:0000457
6 omphalocele64 54 hallmark (90%) Very frequent (99-80%) HP:0001539
7 downturned corners of mouth64 54 hallmark (90%) Very frequent (99-80%) HP:0002714
8 short nose64 54 hallmark (90%) Very frequent (99-80%) HP:0003196

MGI Mouse Phenotypes related to Valproate Embryopathy, Susceptibility to according to GeneCards Suite gene sharing:

41 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053948.9ASCL1, BDNF, HES5, OTX2, SHH
2MP:00053828.5ASCL1, BDNF, HES5, LRP2, OTX2, SHH
3MP:00053808.2CCNA2, HDAC1, HES5, LRP2, OTX2, PARP1
4MP:00053778.2BDNF, HES5, LRP2, OTX2, PARP1, SHH
5MP:00053888.0ASCL1, BDNF, HDAC1, HES5, LRP2, OTX2
6MP:00030127.7ASCL1, BDNF, GRIN2B, HDAC1, HES5, LRP2
7MP:00053797.6ASCL1, BCL2L1, BDNF, HDAC1, HES5, LRP2
8MP:00053917.3ASCL1, BDNF, GSR, HDAC1, HES5, LRP2
9MP:00053867.2ASCL1, BCL2L1, BDNF, GRIN2A, GRIN2B, HDAC1
10MP:00036316.7ASCL1, BCL2L1, BDNF, GRIN2A, GRIN2B, HES5
11MP:00053846.4ASCL1, BCL2L1, BDNF, CAT, CCNA2, HDAC1
12MP:00107686.0ASCL1, BCL2L1, BDNF, CAT, CCNA2, GRIN2B

Drugs & Therapeutics for Valproate Embryopathy, Susceptibility to

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Interventional clinical trials:

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


Cochrane evidence based reviews: valproic acid antenatal infection

Genetic Tests for Valproate Embryopathy, Susceptibility to

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Anatomical Context for Valproate Embryopathy, Susceptibility to

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Publications for Valproate Embryopathy, Susceptibility to

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Variations for Valproate Embryopathy, Susceptibility to

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Expression for genes affiliated with Valproate Embryopathy, Susceptibility to

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

Pathways for genes affiliated with Valproate Embryopathy, Susceptibility to

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GO Terms for genes affiliated with Valproate Embryopathy, Susceptibility to

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

idNameGO IDScoreTop Affiliating Genes
1NMDA selective glutamate receptor complexGO:00171469.8GRIN2A, GRIN2B

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1neuroblast proliferationGO:000740510.6ASCL1, SHH
2glutamate receptor signaling pathwayGO:000721510.6GRIN2A, GRIN2B
3myotube differentiationGO:001490210.5SHH, WNT1
4positive regulation of oligodendrocyte differentiationGO:004871410.4HDAC1, SHH
5neurogenesisGO:002200810.4ASCL1, GRIN2A, WNT1
6forebrain developmentGO:003090010.3LRP2, OTX2, SHH
7dopaminergic neuron differentiationGO:007154210.3OTX2, SHH, WNT1
8midbrain developmentGO:003090110.3OTX2, SHH, WNT1
9neuron fate commitmentGO:004866310.3ASCL1, SHH, WNT1
10spinal cord association neuron differentiationGO:002152710.0ASCL1, WNT1
11response to hyperoxiaGO:00550939.9CAT, HDAC1
12positive regulation of Notch signaling pathwayGO:00457479.9ASCL1, HES5, WNT1
13oligodendrocyte developmentGO:00140039.8ASCL1, HES5, SHH
14negative regulation of apoptotic processGO:00430669.2ASCL1, BCL2L1, CAT, HDAC1, SHH
15positive regulation of cell proliferationGO:00082848.8BCL2L1, HDAC1, HES5, SHH, WNT1
16positive regulation of transcription, DNA-templatedGO:00458938.5CCNA2, HDAC1, HES5, OTX2, SHH, WNT1
17positive regulation of transcription from RNA polymerase II promoterGO:00459448.3ASCL1, HDAC1, HES5, OTX2, PARP1, SHH

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

idNameGO IDScoreTop Affiliating Genes
1extracellular-glutamate-gated ion channel activityGO:000523410.1GRIN2A, GRIN2B
2morphogen activityGO:001601510.0SHH, WNT1
3NMDA glutamate receptor activityGO:00049729.8GRIN2A, GRIN2B

Sources for Valproate Embryopathy, Susceptibility to

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet