MCID: VLP001
MIFTS: 36

Valproate Embryopathy, Susceptibility to malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Valproate Embryopathy, Susceptibility to

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 66UMLS, 37MeSH, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 60SNOMED-CT
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Aliases & Descriptions for Valproate Embryopathy, Susceptibility to:

Name: Valproate Embryopathy, Susceptibility to 50
Fetal Valproate Syndrome 11 46 13 52 66
Fetal Valproic Acid Syndrome 11 52
Embryofoetal Valproic Acid Syndrome 46
 
Valproic Acid Antenatal Infection 37
Valproic Acid Fetal Effects from 46
Valproic Acid Embryopathy 46

Characteristics:

Orphanet epidemiological data:

52
fetal valproate syndrome:
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

OMIM50 609442
Disease Ontology11 DOID:0060471
MeSH37 C536525
NCIt43 C98930
SNOMED-CT60 17231009, 205792006
Orphanet52 ORPHA1906
UMLS via Orphanet67 C0236026
ICD10 via Orphanet29 Q86.8
MESH via Orphanet38 C536525

Summaries for Valproate Embryopathy, Susceptibility to

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NIH Rare Diseases:46 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 SALM protein interactions at the synapse and AIF Pathway. 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:50 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 for Valproate Embryopathy, Susceptibility to

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Clinical features from OMIM:

609442

Symptoms:

 52 (show all 8)
  • narrow mouth
  • thin vermilion border
  • epicanthus
  • long philtrum
  • depressed nasal ridge
  • omphalocele
  • downturned corners of mouth
  • short nose

HPO human phenotypes related to Valproate Embryopathy, Susceptibility to:

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

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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Animal Models for Valproate Embryopathy, Susceptibility to or affiliated genes

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MGI Mouse Phenotypes related to Valproate Embryopathy, Susceptibility to:

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053948.7ASCL1, BDNF, HES5, OTX2, SHH
2MP:00053828.1ASCL1, BDNF, HES5, LRP2, OTX2, SHH
3MP:00053777.8BDNF, HES5, LRP2, OTX2, PARP1, SHH
4MP:00053807.6CCNA2, HDAC1, HES5, LRP2, OTX2, PARP1
5MP:00053887.6ASCL1, BDNF, HDAC1, HES5, LRP2, OTX2
6MP:00030127.2ASCL1, BDNF, GRIN2B, HDAC1, HES5, LRP2
7MP:00053917.0ASCL1, BDNF, GSR, HDAC1, HES5, LRP2
8MP:00053796.6ASCL1, BCL2L1, BDNF, HDAC1, HES5, LRP2
9MP:00053866.4ASCL1, BCL2L1, BDNF, GRIN2A, GRIN2B, HDAC1
10MP:00036315.9ASCL1, BCL2L1, BDNF, GRIN2A, GRIN2B, HES5
11MP:00053845.8ASCL1, BCL2L1, BDNF, CAT, CCNA2, HDAC1
12MP:00107685.3ASCL1, BCL2L1, BDNF, CAT, CCNA2, GRIN2B

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
1spinal cord association neuron differentiationGO:002152710.6ASCL1, WNT1
2glutamate receptor signaling pathwayGO:000721510.5GRIN2A, GRIN2B
3myotube differentiationGO:001490210.4SHH, WNT1
4neuroblast proliferationGO:000740510.3ASCL1, SHH
5neuron fate commitmentGO:004866310.2ASCL1, SHH, WNT1
6positive regulation of oligodendrocyte differentiationGO:004871410.1HDAC1, SHH
7response to hyperoxiaGO:005509310.1CAT, HDAC1
8neurogenesisGO:002200810.1ASCL1, GRIN2A, WNT1
9dopaminergic neuron differentiationGO:007154210.0OTX2, SHH, WNT1
10midbrain developmentGO:00309019.9OTX2, SHH, WNT1
11oligodendrocyte developmentGO:00140039.6ASCL1, HES5, SHH
12forebrain developmentGO:00309009.6LRP2, OTX2, SHH
13positive regulation of Notch signaling pathwayGO:00457479.5ASCL1, HES5, WNT1
14negative regulation of apoptotic processGO:00430668.6ASCL1, BCL2L1, CAT, HDAC1, SHH
15positive regulation of transcription, DNA-templatedGO:00458938.4CCNA2, HDAC1, HES5, OTX2, SHH, WNT1
16positive regulation of cell proliferationGO:00082847.7BCL2L1, HDAC1, HES5, SHH, WNT1
17positive regulation of transcription from RNA polymerase II promoterGO:00459447.6ASCL1, 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:000523410.0GRIN2A, GRIN2B
2NMDA glutamate receptor activityGO:000497210.0GRIN2A, GRIN2B
3morphogen activityGO:00160159.8SHH, WNT1

Sources for Valproate Embryopathy, Susceptibility to

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet