MCID: FTL030
MIFTS: 27

Fetal Valproate Syndrome malady

Rare diseases, Fetal diseases categories
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Summaries for Fetal Valproate Syndrome

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NIH Rare Diseases:42 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 valproic acid embryopathy, is related to septo-optic dysplasia and polydactyly, and has symptoms including epicanthic folds, short/small nose and flattened nose. Affiliated tissues include eye and kidney.

Wikipedia:65 Valproic acid (VPA, valproate), an acidic chemical compound, has found clinical use as an anticonvulsant... more...

Description from OMIM:46 609442

Aliases & Classifications for Fetal Valproate Syndrome

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Sources:
42NIH Rare Diseases, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Fetal Valproate Syndrome, Aliases & Descriptions:

Name: Fetal Valproate Syndrome 42 48 46 62
Valproic Acid Embryopathy 42 62
Embryofoetal Valproic Acid Syndrome 42
 
Valproic Acid Fetal Effects from 42
Fetal Valproic Acid Syndrome 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases


Characteristics (Orphanet epidemiological data):

48
fetal valproate syndrome:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


External Ids:

OMIM46 609442
MESH via Orphanet35 C536525
ICD10 via Orphanet26 Q86.8
UMLS via Orphanet63 C0236026

Related Diseases for Fetal Valproate Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1septo-optic dysplasia10.3
2polydactyly10.1
3patent ductus arteriosus10.1
4coloboma10.1
5multicystic dysplastic kidney10.1

Graphical network of diseases related to Fetal Valproate Syndrome:



Diseases related to fetal valproate syndrome

Symptoms for Fetal Valproate Syndrome

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Clinical features from OMIM:

609442

Symptoms:

48 (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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Drug clinical trials:

Search ClinicalTrials for Fetal Valproate Syndrome

Search NIH Clinical Center for Fetal Valproate Syndrome

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:

32
Eye, Kidney

Animal Models for Fetal Valproate Syndrome or affiliated genes

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Publications for Fetal Valproate Syndrome

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Articles related to Fetal Valproate Syndrome:

(show all 29)
idTitleAuthorsYear
1
Fetal valproate syndrome. (25400349)
2014
2
Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome. (24135485)
2014
3
Is coloboma a feature of fetal valproate syndrome? (24263622)
2014
4
Difficult airway in an infant with fetal valproate syndrome. (24292219)
2013
5
Epigenetic changes and disturbed neural development in a human embryonic stem cell-based model relating to the fetal valproate syndrome. (22723015)
2012
6
Severe fetal valproate syndrome: combination of complex cardiac defect, multicystic dysplastic kidney, and trigonocephaly. (21291342)
2011
7
Fetal valproate syndrome in a 2-month-old male infant. (20427941)
2010
8
A case of fetal valproate syndrome with new features expanding the phenotype. (19198722)
2009
9
A case of fetal valproate syndrome with new features expanding the phenotype. (19618023)
2009
10
Early intervention for the ocular and neurodevelopmental sequelae of Fetal Valproate Syndrome. (17688650)
2007
11
Fetal valproate syndrome. (17090909)
2006
12
Patent ductus arteriosus in fetal valproate syndrome. (14510093)
2003
13
Nuchal edema as the first sign of fetal valproate syndrome. (12224082)
2002
14
Fatal cardiac malformation in fetal valproate syndrome. (11758141)
2001
15
Reduced corneal sensation and severe dry eyes in a child with fetal valproate syndrome. (11702984)
2001
16
Fetal valproate syndrome and autism: additional evidence of an association. (11263692)
2001
17
Anomalous right pulmonary artery origins in association with the fetal valproate syndrome. (9950375)
1999
18
A child with a DIC (15p; 22p) centric fusion and fetal Valproate syndrome. (10728044)
1999
19
A male with fetal valproate syndrome and autism. (9344057)
1997
20
Fetal valproate syndrome with reduction deformity of limb. (7754767)
1995
21
Fetal valproate syndrome. (8544193)
1995
22
Fetal valproate syndrome: clinical and neuro-developmental features in two sibling pairs. (7512516)
1994
23
Preaxial polydactyly in the fetal valproate syndrome. (1473550)
1992
24
The fetal valproate syndrome. (1925511)
1991
25
Verification of the fetal valproate syndrome phenotype. (3125743)
1988
26
The fetal valproate syndrome. (3148280)
1988
27
Fetal valproate syndrome: is there a recognisable phenotype? (3123693)
1987
28
Fetal valproate syndrome. (3087169)
1986
29
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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Compounds for genes affiliated with Fetal Valproate Syndrome

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GO Terms for genes affiliated with Fetal Valproate Syndrome

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Products for genes affiliated with Fetal Valproate Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Fetal Valproate Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet