Details of Disease | DrugMAP

General Information of Disease (ID: DISIYW6T)

Disease Name	Anencephaly
Synonyms	anencephalus
Definition	A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISD715V: Hereditary neurological disease DISIYW6T: Anencephaly
Disease Identifiers	MONDO ID MONDO_0000819 MESH ID D000757 UMLS CUI C0002902 MedGen ID 8068 HPO ID HP:0002323 SNOMED CT ID 609417004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MTHFR	TTQWOU1	Limited	Genetic Variation	[1]
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This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GOLGA4	OTCMEHNJ	Disputed	Genetic Variation	[2]
PCMT1	OTGYVSGU	Disputed	Genetic Variation	[3]
CECR2	OTF54V3W	Strong	Biomarker	[4]
CELSR1	OT7PS8O1	Strong	Genetic Variation	[5]
DVL3	OTPRROHJ	Strong	Genetic Variation	[5]
EFNA5	OTOH4DRR	Strong	Biomarker	[6]
FOXN1	OTE80D6I	Strong	Genetic Variation	[7]
FUZ	OTC427QQ	Strong	Genetic Variation	[8]
LMO4	OT5NDCT9	Strong	Biomarker	[9]
SCRIB	OTW4N3FV	Strong	Genetic Variation	[5]
TRIM36	OT37JQ8Y	Strong	Genetic Variation	[10]
PRKACB	OT6RMDCE	Definitive	Genetic Variation	[11]
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⏷ Show the Full List of 12 DOT(s)

References

1	Variants in maternal COMT and MTHFR genes and risk of neural tube defects in offspring.Metab Brain Dis. 2015 Apr;30(2):507-13. doi: 10.1007/s11011-014-9582-8. Epub 2014 Jul 4.
2	Role of parental folate pathway single nucleotide polymorphisms in altering the susceptibility to neural tube defects in South India.J Perinat Med. 2010;38(1):63-9. doi: 10.1515/jpm.2009.119.
3	Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area.Gene. 2012 Sep 1;505(2):340-4. doi: 10.1016/j.gene.2012.05.035. Epub 2012 May 27.
4	Strain-specific modifier genes of Cecr2-associated exencephaly in mice: genetic analysis and identification of differentially expressed candidate genes.Physiol Genomics. 2012 Jan 18;44(1):35-46. doi: 10.1152/physiolgenomics.00124.2011. Epub 2011 Nov 1.
5	Digenic variants of planar cell polarity genes in human neural tube defect patients.Mol Genet Metab. 2018 May;124(1):94-100. doi: 10.1016/j.ymgme.2018.03.005. Epub 2018 Mar 18.
6	Regulation of repulsion versus adhesion by different splice forms of an Eph receptor.Nature. 2000 Nov 9;408(6809):203-6. doi: 10.1038/35041577.
7	FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus.Clin Genet. 2008 Apr;73(4):380-4. doi: 10.1111/j.1399-0004.2008.00977.x.
8	Glutamate carboxypeptidase II gene polymorphisms and neural tube defects in a high-risk Chinese population.Metab Brain Dis. 2012 Mar;27(1):59-65. doi: 10.1007/s11011-011-9272-8. Epub 2011 Nov 29.
9	The Grainyhead-like epithelial transactivator Get-1/Grhl3 regulates epidermal terminal differentiation and interacts functionally with LMO4.Dev Biol. 2006 Nov 1;299(1):122-36. doi: 10.1016/j.ydbio.2006.07.015. Epub 2006 Jul 21.
10	A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family. Hum Mol Genet. 2017 Mar 15;26(6):1104-1114. doi: 10.1093/hmg/ddx020.
11	Association between PKA gene polymorphism and NTDs in high risk Chinese population in Shanxi.Int J Clin Exp Pathol. 2013 Nov 15;6(12):2968-74. eCollection 2013.