MCID: FTL030
MIFTS: 44

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 myelodysplastic syndrome and lethal congenital contractural syndrome 3, 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 heart, skeletal muscle and lung, 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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Graphical network of the top 20 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
Heart, Skeletal muscle, Lung, B cells, Endothelial

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 31)
idTitleAuthorsYear
1
Identification of cytokines for early prediction of malignant middle cerebral artery infarction. (26981614)
2016
2
SLK/LOSK kinase regulates cell motility independently of microtubule organization and Golgi polarization. (26818812)
2016
3
In vitro fungicidal activities of anidulafungin, caspofungin and micafungin against Candida glabrata, Candida bracarensis and Candida nivariensis evaluated by time-kill studies. (25801575)
2015
4
Aberrant REDD1-mTORC1 responses to insulin in skeletal muscle from Type 2 diabetics. (26269521)
2015
5
The tail that wags the dog: p12, the smallest subunit of DNA polymerase I', is degraded by ubiquitin ligases in response to DNA damage and during cell cycle progression. (24300032)
2014
6
CD79B and MYD88 mutations in diffuse large B-cell lymphoma. (24444466)
2014
7
Targeting sortilin in immune cells reduces proinflammatory cytokines and atherosclerosis. (25401472)
2014
8
Outcomes of appropriate empiric combination versus monotherapy for Pseudomonas aeruginosa bacteremia. (23263001)
2013
9
hTERT-siRNA could potentiate the cytotoxic effect of gemcitabine to pancreatic cancer cells Bxpc-3. (22757972)
2012
10
Impact of KRAS and EGFR gene mutations on recurrence and survival in patients with surgically resected lung adenocarcinomas. (21607772)
2012
11
Selective spatial working memory impairment in a group of children with mathematics learning disabilities and poor problem-solving skills. (21444930)
2012
12
Expression of RECK, RAGE and MMP-9 in nasopharyngeal carcinoma and its significance]. (21254649)
2010
13
The potential of p38 MAPK inhibitors to modulate periodontal infections. (19149513)
2009
14
Metabolic syndrome and hormonal interaction in obese and type 2 diabetic Algerian subject: the behavior eating disorder impact]. (19411234)
2009
15
Spectrum of factor VIII mutations in Arab patients with severe haemophilia A. (18371166)
2008
16
Posttranslational Protein Modifications in Type 1 Diabetes - Genetic Studies with PCMT1, the Repair Enzyme Protein Isoaspartate Methyltransferase (PIMT) Encoding Gene. (19290383)
2008
17
TS-1 as first-line therapy for gastric linitis plastica: historical control study. (16702816)
2006
18
Use of medication during pregnancy and risk of childhood leukemia (Canada). (15577295)
2004
19
Fibroblast growth factors in epithelial repair and cytoprotection. (15293802)
2004
20
Glycosyltransferases encoded by viruses. (15448335)
2004
21
Hepatopulmonary syndrome. (15482333)
2004
22
Transformation function of human bronchial epithelial cell by latent membrane protein1 encoded by Epstein-Barr virus gene]. (12866961)
2003
23
A 40-bp RNA element that mediates stabilization of vascular endothelial growth factor mRNA by HuR. (11834731)
2002
24
Motion sickness and migraine: optokinetic stimulation increases scalp tenderness, pain sensitivity in the fingers and photophobia. (11972579)
2002
25
An outbreak of Mycobacterium chelonae infection following liposuction. (12015697)
2002
26
Expression of C antigen in transduced K562 cells. (11161241)
2001
27
Neonatal lupus erythematosus with congenital heart block and severe heart failure due to myocarditis and endocardititis of the mitral valve. (8796403)
1996
28
Partial callosotomy for Lennox-Gastaut syndrome--first cases in Japan. (1710321)
1990
29
Immune status and immune therapy of renal cell carcinoma. (2219564)
1990
30
Purpura fulminans. (3610286)
1987
31
(1) TUBERCULOUS EPIDIDYMITIS ASSOCIATED WITH OR REACTIVATED BY ACUTE GONORRHOEA. (21773414)
1944

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