MCID: FTL030
MIFTS: 45

Fetal Valproate Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Fetal Valproate Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 27ICD10, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Fetal Valproate Syndrome:

Name: Fetal Valproate Syndrome 10 45 12 51 65
Fetal Valproic Acid Syndrome 10 51
Embryofoetal Valproic Acid Syndrome 45
 
Valproic Acid Antenatal Infection 36
Valproic Acid Fetal Effects from 45
Valproic Acid Embryopathy 45

Characteristics:

Orphanet epidemiological data:

51
fetal valproate syndrome:
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:0060471
ICD1027 Q86.8
MeSH36 C536525
Orphanet51 1906
UMLS via Orphanet66 C0236026
ICD10 via Orphanet28 Q86.8
MESH via Orphanet37 C536525
UMLS65 C0236026

Summaries for Fetal Valproate Syndrome

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NIH Rare Diseases:45 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: Fetal Valproate Syndrome, also known as fetal valproic acid syndrome, is related to lethal congenital contractural syndrome 3 and polydactyly, and has symptoms including narrow mouth, thin vermilion border and epicanthus. An important gene associated with Fetal Valproate Syndrome is CD96 (CD96 Molecule), and among its related pathways are SALM protein interactions at the synapse and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include b cells, heart and skeletal muscle, and related mouse phenotypes are taste/olfaction and embryo.

Disease Ontology:10 A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.

Related Diseases for Fetal Valproate Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1lethal congenital contractural syndrome 310.4CD96, LRP2
2polydactyly9.8
3coloboma9.8
4patent ductus arteriosus9.8
5multicystic dysplastic kidney9.8
6glomerulosclerosis9.7BDNF, CAT
7chorioamnionitis9.4BDNF, GRIN2A, GRIN2B, SHH
8mucinous cystadenocarcinoma9.3BDNF, CAT, GRIN2A, GRIN2B
9zika fever4.7ASCL1, BCL2L1, BDNF, CAT, CCNA2, CD96

Graphical network of diseases related to Fetal Valproate Syndrome:



Diseases related to fetal valproate syndrome

Symptoms for Fetal Valproate Syndrome

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Symptoms:

 51 (show all 9)
  • epicanthic folds
  • short/small nose
  • flattened nose
  • microstomia/little mouth
  • thin/retracted lips
  • downturned mouth
  • long philtrum
  • omphalocele/exomphalos
  • antenatal exposure : anticonvulsants

HPO human phenotypes related to Fetal Valproate Syndrome:

(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 Fetal Valproate Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fetal Valproate Syndrome


Cochrane evidence based reviews: valproic acid antenatal infection

Genetic Tests for Fetal Valproate Syndrome

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Anatomical Context for Fetal Valproate Syndrome

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MalaCards organs/tissues related to Fetal Valproate Syndrome:

33
B cells, Heart, Skeletal muscle, Endothelial, Lung, Kidney, Eye

Animal Models for Fetal Valproate Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Fetal Valproate Syndrome:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053948.7ASCL1, BDNF, HES5, OTX2, SHH
2MP:00053808.1CCNA2, HDAC1, HES5, LRP2, OTX2, SHH
3MP:00053778.1BDNF, HES5, LRP2, OTX2, SHH, WNT1
4MP:00053827.9ASCL1, BDNF, HES5, LRP2, OTX2, SHH
5MP:00107717.8ASCL1, BCL2L1, BDNF, EGF, GRIN2A, HDAC1
6MP:00030127.7ASCL1, BDNF, GRIN2B, HDAC1, HES5, LRP2
7MP:00053887.5ASCL1, BDNF, HDAC1, HES5, LRP2, OTX2
8MP:00053867.1ASCL1, BCL2L1, BDNF, GRIN2A, GRIN2B, HDAC1
9MP:00053916.9ASCL1, BDNF, EGF, GSR, HDAC1, HES5
10MP:00036316.9ASCL1, BCL2L1, BDNF, GRIN2A, GRIN2B, HES5
11MP:00053796.6ASCL1, BCL2L1, BDNF, EGF, HDAC1, HES5
12MP:00053846.2ASCL1, BCL2L1, BDNF, CAT, CCNA2, HDAC1
13MP:00053785.8ASCL1, BCL2L1, BDNF, EGF, GRIN2B, HDAC1
14MP:00107685.6ASCL1, BCL2L1, BDNF, CAT, CCNA2, GRIN2B

Publications for Fetal Valproate Syndrome

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Articles related to Fetal Valproate Syndrome:

(show all 32)
idTitleAuthorsYear
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
Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome. (24135485)
2014
5
Is coloboma a feature of fetal valproate syndrome? (24263622)
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
Patent ductus arteriosus in fetal valproate syndrome. (14510093)
2003
16
Nuchal edema as the first sign of fetal valproate syndrome. (12224082)
2002
17
Fatal cardiac malformation in fetal valproate syndrome. (11758141)
2001
18
Reduced corneal sensation and severe dry eyes in a child with fetal valproate syndrome. (11702984)
2001
19
Fetal valproate syndrome and autism: additional evidence of an association. (11263692)
2001
20
Anomalous right pulmonary artery origins in association with the fetal valproate syndrome. (9950375)
1999
21
A child with a DIC (15p; 22p) centric fusion and fetal Valproate syndrome. (10728044)
1999
22
A male with fetal valproate syndrome and autism. (9344057)
1997
23
Fetal valproate syndrome with reduction deformity of limb. (7754767)
1995
24
Fetal valproate syndrome. (8544193)
1995
25
Fetal valproate syndrome: clinical and neuro-developmental features in two sibling pairs. (7512516)
1994
26
Preaxial polydactyly in the fetal valproate syndrome. (1473550)
1992
27
The fetal valproate syndrome. (1925511)
1991
28
Verification of the fetal valproate syndrome phenotype. (3125743)
1988
29
The fetal valproate syndrome. (3148280)
1988
30
Fetal valproate syndrome: is there a recognisable phenotype? (3123693)
1987
31
Fetal valproate syndrome. (3087169)
1986
32
The fetal valproate syndrome. (6439041)
1984

Variations for Fetal Valproate Syndrome

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Expression for genes affiliated with Fetal Valproate Syndrome

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Search GEO for disease gene expression data for Fetal Valproate Syndrome.

Pathways for genes affiliated with Fetal Valproate Syndrome

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GO Terms for genes affiliated with Fetal Valproate Syndrome

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Cellular components related to Fetal Valproate Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1NMDA selective glutamate receptor complexGO:00171469.9GRIN2A, GRIN2B

Biological processes related to Fetal Valproate Syndrome according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of protein catabolic processGO:004217710.4GRIN2A, SHH
2neuroblast proliferationGO:000740510.4ASCL1, SHH
3myotube differentiationGO:001490210.4SHH, WNT1
4T cell differentiation in thymusGO:003307710.4SHH, WNT1
5dopaminergic neuron differentiationGO:007154210.3SHH, WNT1
6negative regulation of cholesterol effluxGO:009037010.3EGF, SHH
7positive regulation of cerebellar granule cell precursor proliferationGO:002194010.3EGF, SHH
8midbrain developmentGO:003090110.2OTX2, SHH, WNT1
9neuron fate commitmentGO:004866310.1ASCL1, SHH, WNT1
10branching morphogenesis of an epithelial tubeGO:00487549.9EGF, SHH
11response to reactive oxygen speciesGO:00003029.9CAT, GSR
12endocytosisGO:00068979.8BCL2L1, LRP2, SHH
13positive regulation of Notch signaling pathwayGO:00457479.7ASCL1, HES5, WNT1
14canonical Wnt signaling pathwayGO:00600709.6EGF, SHH, WNT1
15neuron differentiationGO:00301829.6ASCL1, HES5, WNT1
16oligodendrocyte developmentGO:00140039.5ASCL1, HES5, SHH
17axon guidanceGO:00074118.4BDNF, EGF, GRIN2A, GRIN2B, SHH
18negative regulation of apoptotic processGO:00430668.4ASCL1, BCL2L1, CAT, HDAC1, SHH
19positive regulation of cell proliferationGO:00082848.4HDAC1, HES5, SHH, WNT1
20positive regulation of transcription, DNA-templatedGO:00458938.3CCNA2, HDAC1, HES5, OTX2, SHH, WNT1
21positive regulation of transcription from RNA polymerase II promoterGO:00459447.9ASCL1, HDAC1, HES5, OTX2, SHH, WNT1

Sources for Fetal Valproate Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet