Neural Tube Defects, Susceptibility To; Ntd

Description

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 (OMIM ) (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 (OMIM ), which are caused by genes involved in folate metabolism.

Clinical Features

Top most frequent phenotypes and symptoms related to Neural Tube Defects, Susceptibility To; Ntd

  • Hydrocephalus
  • Abnormality of cardiovascular system morphology
  • Abnormal heart morphology
  • Cleft lip
  • Urinary incontinence
  • Abnormal vertebral morphology
  • Spina bifida
  • Hypocalcemia
  • Spina bifida occulta
  • Multiple lipomas

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD have a estimated birth prevalence of 91.05 per 100k worldwide.
No data available about the known clinical features onset.

Researches and researchers

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Neural Tube Defects, Susceptibility To; Ntd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
25 %
VANGL1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

VANGL1
Specificity
100 %
Genes
25 %
Caudal regression syndrome (sequence analysis of VANGL1 gene).

By CGC Genetics (Portugal).

VANGL1
Specificity
100 %
Genes
25 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
25 %
Caudal regression syndrome.

By Praxis fuer Humangenetik Wien (Austria).

VANGL1
Specificity
100 %
Genes
25 %
Neural tube defects.

By Praxis fuer Humangenetik Wien (Austria).

VANGL1
Specificity
100 %
Genes
25 %
Caudal regression syndrome.

By MedGene (Slovakia).

VANGL1
Specificity
100 %
Genes
25 %
Neural tube defects.

By MedGene (Slovakia).

VANGL1
Specificity
100 %
Genes
25 %

We have 16 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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