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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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Fetal Valproate Syndrome, also known as embryofoetal valproic acid syndrome, is related to septo-optic dysplasia and polydactyly, and has symptoms including antenatal exposure : anticonvulsants, omphalocele/exomphalos and thin/retracted lips. 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:47 609442

Aliases & Classifications for Fetal Valproate Syndrome

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Sources:
43NIH Rare Diseases, 49Orphanet, 47OMIM, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
fetal valproate syndrome:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

fetal valproate syndrome 43 49 47 62
embryofoetal valproic acid syndrome 43
valproic acid fetal effects from 43
fetal valproic acid syndrome 49
valproic acid embryopathy 43


External Ids:

OMIM47 609442
MESH via Orphanet36 C536525
ICD10 via Orphanet26 Q86.8
SNOMED-CT via Orphanet59 17231009
UMLS via Orphanet63 C0236026

Related Diseases for Fetal Valproate Syndrome

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Sources:
17GeneCards, 18GeneDecks
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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
3coloboma10.1
4patent ductus arteriosus10.1
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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Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

609442

Symptoms:

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

Drugs & Therapeutics for Fetal Valproate Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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Sources:
33MalaCards
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MalaCards organs/tissues related to Fetal Valproate Syndrome:

33
Eye, Kidney

Animal Models for Fetal Valproate Syndrome or affiliated genes

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Publications for Fetal Valproate Syndrome

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Sources:
52PubMed
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Articles related to Fetal Valproate Syndrome:

(show all 29)
idTitleAuthorsYear
1
Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome. (24135485)
2014
2
Is coloboma a feature of fetal valproate syndrome? (24263622)
2014
3
Difficult airway in an infant with fetal valproate syndrome. (24292219)
2013
4
An anomalous left superior venacava draining into left atrium in association with fetal valproate syndrome. (22678520)
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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Sources:
15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Fetal Valproate Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet