Spina bifida (WP5150)

Homo sapiens

Pathway under construction to explain how Spina Bifida occurs during development. Many genes in the pathway are known risk factors for Spina Bifida. The current theory suggests that the shortage of nucleotides in neuroepithelial cells slows the cellular replication leading to a 'retarded' neural fold development.


XNauts , Friederike Ehrhart , Egon Willighagen , and Martina Summer-Kutmon


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Homo sapiens


Rare Diseases


Disease Ontology

spina bifida neural tube defect

Cell Type Ontology

neuroepithelial stem cell

Pathway Ontology

folate metabolic pathway altered folate metabolic pathway


Label Type Compact URI Comment
Folic acid Metabolite chebi:27470
10-Formyltetrahydrofolate Metabolite hmdb:HMDB00972
5,10-Methenyltetrahydrofolate Metabolite chebi:57455
THF Metabolite chebi:20506
Cobalamin Metabolite chebi:30411
Ethanol Metabolite chebi:16236
Homocysteine Metabolite hmdb:HMDB00742
5,10-Methylenetetrahydrofolate Metabolite chebi:12071
Methionine Metabolite chebi:16643
2'-Deoxycytidine 5'-monophosphate(1−) residue Metabolite chebi:85452
Methylcobalamin Metabolite hmdb:HMDB02274
5-Methyl dCMP(1−) residue Metabolite chebi:85454
5-Methyltetrahydrofolate Metabolite chebi:15641
Methylcobalamin Metabolite hmdb:HMDB02274
Cobalamin Metabolite chebi:30411
THF Metabolite chebi:20506
Homocysteine Metabolite hmdb:HMDB00742
Methionine Metabolite chebi:16643
S-Adenosylhomocysteine Metabolite chebi:57856
S-Adenosylmethionine Metabolite chebi:67040
MTR GeneProduct ncbigene:4548
MTHFR GeneProduct ncbigene:4524
SHMT1 GeneProduct ncbigene:6470
MTHFD1 GeneProduct ncbigene:4522
MTRR GeneProduct ncbigene:4552
MAT1A GeneProduct ncbigene:4143
DNMT1 GeneProduct ncbigene:1786
DNMT3b GeneProduct ncbigene:1789
KIAA0828 GeneProduct ncbigene:23382
MAT2B GeneProduct ncbigene:27430
DNMT3a GeneProduct ncbigene:1788
AHCY GeneProduct ncbigene:191


  1. Role of S-adenosylmethionine in DNA synthesis and haemopoiesis. Sourial NA, Amess JA, Amos RJ. Scand J Haematol. 1985 Apr;34(4):303–7. PubMed Europe PMC Scholia
  2. Twenty-four non-synonymous polymorphisms in the one-carbon metabolic pathway and risk of colorectal adenoma in the Nurses’ Health Study. Hazra A, Wu K, Kraft P, Fuchs CS, Giovannucci EL, Hunter DJ. Carcinogenesis. 2007 Jul;28(7):1510–9. PubMed Europe PMC Scholia
  3. Toward understanding the genetic basis of neural tube defects. Kibar Z, Capra V, Gros P. Clin Genet. 2007 Apr;71(4):295–310. PubMed Europe PMC Scholia
  4. Neural tube defects, folic acid and methylation. Imbard A, Benoist JF, Blom HJ. Int J Environ Res Public Health. 2013 Sep 17;10(9):4352–89. PubMed Europe PMC Scholia