MCID: ISL155
MIFTS: 11

Isolated Anencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Isolated Anencephaly

MalaCards integrated aliases for Isolated Anencephaly:

Name: Isolated Anencephaly 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA563609

Summaries for Isolated Anencephaly

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

Related Diseases for Isolated Anencephaly

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



Diseases related to Isolated Anencephaly

Symptoms & Phenotypes for Isolated Anencephaly

Drugs & Therapeutics for Isolated Anencephaly

Search Clinical Trials , NIH Clinical Center for Isolated Anencephaly

Genetic Tests for Isolated Anencephaly

Anatomical Context for Isolated Anencephaly

Publications for Isolated Anencephaly

Articles related to Isolated Anencephaly:

# Title Authors PMID Year
1
Maternal occupational exposure to ionizing radiation and major structural birth defects. 61
25820072 2015
2
Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area. 61
22647835 2012
3
The incidence of neural tube defects in Norway and the Arkhangelskaja Oblast in Russia and the association with maternal age. 61
19353336 2009
4
[Epidemiological study of anencephaly in Italy and anatomo-pathological findings in cases observed by us]. 61
2392336 1990
5
The value of chromosome analysis in cases of neural tube defects: a case of anencephaly associated with fetal dup(2)(p24----pter). 61
3317387 1987
6
Etiologic heterogeneity of neural-tube defects. 61
1107843 1976

Variations for Isolated Anencephaly

Expression for Isolated Anencephaly

Search GEO for disease gene expression data for Isolated Anencephaly.

Pathways for Isolated Anencephaly

GO Terms for Isolated Anencephaly

Biological processes related to Isolated Anencephaly 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 Anencephaly

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
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