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Neural tube defects, susceptibility to

Summary

Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (see 206500) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634), which are caused by genes involved in folate metabolism. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: GDCF-2, HC11, HSMCR30, MCAF, MCP-1, MCP1, SCYA2, SMC-CF, CCL2
    Summary: C-C motif chemokine ligand 2

  • Also known as: CPLANE3, FY, NTD, FUZ
    Summary: fuzzy planar cell polarity protein

  • Also known as: SAVA, T, TFT, TBXT
    Summary: T-box transcription factor T

  • Also known as: KITENIN, LPP2, STB2, STBM2, VANGL1
    Summary: VANGL planar cell polarity protein 1

  • Also known as: LPP1, LTAP, STB1, STBM, STBM1, VANGL2
    Summary: VANGL planar cell polarity protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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