MCID: ISL154
MIFTS: 10

Isolated Exencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Isolated Exencephaly

MalaCards integrated aliases for Isolated Exencephaly:

Name: Isolated Exencephaly 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA563612

Summaries for Isolated Exencephaly

MalaCards based summary : Isolated Exencephaly is related to isolated anencephaly and anencephaly. An important gene associated with Isolated Exencephaly is MTHFR (Methylenetetrahydrofolate Reductase).

Related Diseases for Isolated Exencephaly

Graphical network of the top 20 diseases related to Isolated Exencephaly:



Diseases related to Isolated Exencephaly

Symptoms & Phenotypes for Isolated Exencephaly

Drugs & Therapeutics for Isolated Exencephaly

Search Clinical Trials , NIH Clinical Center for Isolated Exencephaly

Genetic Tests for Isolated Exencephaly

Anatomical Context for Isolated Exencephaly

Publications for Isolated Exencephaly

Articles related to Isolated Exencephaly:

# Title Authors PMID Year
1
The impact of gestational age on targeted amniotic cell profiling in experimental neural tube defects. 61
25171576 2015
2
Targeted quantitative amniotic cell profiling: a potential diagnostic tool in the prenatal management of neural tube defects. 61
23845608 2013
3
The amniotic fluid as a source of neural stem cells in the setting of experimental neural tube defects. 61
22957979 2013

Variations for Isolated Exencephaly

Expression for Isolated Exencephaly

Search GEO for disease gene expression data for Isolated Exencephaly.

Pathways for Isolated Exencephaly

GO Terms for Isolated Exencephaly

Biological processes related to Isolated Exencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neural tube closure GO:0001843 8.62 VANGL2 MTHFR

Sources for Isolated Exencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....