Neural Tube Defects, Folate-sensitive; Ntdfs

Description

Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (OMIM ) (Detrait et al., 2005).Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects.Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects.

Clinical Features

Phenotypes and symptoms related to Neural Tube Defects, Folate-sensitive; Ntdfs

  • Abnormality of metabolism/homeostasis
  • Abnormal heart morphology
  • Spina bifida
  • Anencephaly
  • Myelomeningocele
  • Spinal dysraphism
  • Neural tube defect

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Neural Tube Defects, Folate-sensitive; Ntdfs Is also known as ntd, folate-sensitive.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Neural Tube Defects, Folate-sensitive; Ntdfs Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Methylenetetrahydrofolate Dehydrogenase 1 Deficiency (MTHFD1 gene).

By VU University Medical Center Metabolic Unit, PX 1X 009 (Netherlands).

MTHFD1
Specificity
100 %
Genes
25 %
Tetrahydrofolate Metabolism Deficiency NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

SHMT1, SLC19A1, MTHFD1L, DHFR, FOLR1, FPGS, MTHFD1, MTHFS, PTS
Specificity
12 %
Genes
25 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB , (...)

View the complete list with 476 more genes
Specificity
1 %
Genes
50 %
MTHFD1.

By Fulgent Genetics Fulgent Genetics (United States).

MTHFD1
Specificity
100 %
Genes
25 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
25 %
Comprehensive Hematology Panel.

By Blueprint Genetics (Finland).

RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF , (...)

View the complete list with 218 more genes
Specificity
1 %
Genes
50 %
Neural Tube Defects and Related Disorders , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics (Spain).

VANGL2, VANGL1, MMACHC, FUZ, MTHFD1, MTHFR, MTR, MTRR
Specificity
50 %
Genes
100 %
MTHFR.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

MTHFR
Specificity
100 %
Genes
25 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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