NTDFS
MCID: NRL018
MIFTS: 48

Neural Tube Defects, Folate-Sensitive (NTDFS)

Categories: Genetic diseases

Aliases & Classifications for Neural Tube Defects, Folate-Sensitive

MalaCards integrated aliases for Neural Tube Defects, Folate-Sensitive:

Name: Neural Tube Defects, Folate-Sensitive 56 73 29 6 39
Neural Tube Defects, Folate-Sensitive, Susceptibility to 56 13 6
Neural Tube Defect, Folate-Sensitive 74 71
Ntdfs 56 73
Neural Tube Defects, Susceptibility to 56
Ntd, Folate-Sensitive 56
Neural Tube Defects 56

Characteristics:

OMIM:

56
Inheritance:
? autosomal recessive


HPO:

31
neural tube defects, folate-sensitive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 601634
SNOMED-CT via HPO 68 253098009 258211005
UMLS 71 C1866558

Summaries for Neural Tube Defects, Folate-Sensitive

OMIM : 56 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 (206500) (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. (601634)

MalaCards based summary : Neural Tube Defects, Folate-Sensitive, also known as neural tube defects, folate-sensitive, susceptibility to, is related to neural tube defects and anencephaly. An important gene associated with Neural Tube Defects, Folate-Sensitive is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism. The drugs Trace Elements and Vitamins have been mentioned in the context of this disorder. Affiliated tissues include heart, colon and breast, and related phenotypes are abnormality of metabolism/homeostasis and spinal dysraphism

UniProtKB/Swiss-Prot : 73 Neural tube defects, folate-sensitive: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly.

Wikipedia : 74 Neurulation refers to the folding process in vertebrate embryos, which includes the transformation of... more...

Related Diseases for Neural Tube Defects, Folate-Sensitive

Diseases related to Neural Tube Defects, Folate-Sensitive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 421)
# Related Disease Score Top Affiliating Genes
1 neural tube defects 33.3 MTRR MTR MTHFR MTHFD1
2 anencephaly 31.6 MTRR MTR MTHFR MTHFD1
3 myelomeningocele 31.0 MTRR MTR MTHFR MTHFD1
4 spina bifida occulta 30.6 MTHFR MTHFD1
5 omphalocele 30.3 MTHFR MTHFD1
6 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 30.2 MTR MTHFR
7 down syndrome 30.0 MTRR MTR MTHFR
8 vitamin b12 deficiency 29.8 MTRR MTR MTHFR
9 cleft lip 29.8 MTRR MTR MTHFR
10 homocysteinemia 29.8 MTRR MTR MTHFR
11 homocystinuria 29.2 MTRR MTR MTHFR
12 disorders of intracellular cobalamin metabolism 29.2 MTRR MTR
13 orofacial cleft 29.2 MTRR MTHFR MTHFD1
14 placental abruption 29.1 MTRR MTHFR MTHFD1
15 vascular disease 29.1 MTRR MTR MTHFR
16 choline deficiency disease 29.0 MTR MTHFR MTHFD1
17 methylmalonic acidemia 28.9 MTRR MTR MTHFR
18 ventricular septal defect 28.8 MTRR MTR
19 phenylketonuria 28.8 MTRR MTR MTHFR
20 marfan syndrome 28.8 MTRR MTR MTHFR
21 autism spectrum disorder 28.3 MTRR MTR MTHFR
22 megaloblastic anemia 28.2 MTRR MTR MTHFR MTHFD1
23 neural tube defects, x-linked 12.8
24 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.7
25 encephalocele 11.9
26 spondylocostal dysostosis 3, autosomal recessive 11.8
27 iniencephaly 11.7
28 craniorachischisis 11.6
29 chiari malformation 11.6
30 meckel syndrome, type 1 11.6
31 lipomyelomeningocele 11.6
32 schisis association 11.6
33 valproate embryopathy 11.6
34 limb-body wall complex 11.6
35 fryns microphthalmia syndrome 11.6
36 parietal foramina 11.6
37 klippel-feil syndrome 11.6
38 meningoencephalocele 11.6
39 mthfr gene variant 11.6
40 alpha-fetoprotein deficiency 11.2
41 hyperthermia induced defects 11.2
42 exencephaly 10.8
43 hydrocephalus 10.7
44 chromosomal triplication 10.6
45 meningocele 10.6
46 spina bifida aperta 10.5
47 cleft palate, isolated 10.4
48 preaxial hallucal polydactyly 10.4
49 hyperglycemia 10.4
50 abdominal wall defect 10.4

Graphical network of the top 20 diseases related to Neural Tube Defects, Folate-Sensitive:



Diseases related to Neural Tube Defects, Folate-Sensitive

Symptoms & Phenotypes for Neural Tube Defects, Folate-Sensitive

Human phenotypes related to Neural Tube Defects, Folate-Sensitive:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 spinal dysraphism 31 HP:0010301

Symptoms via clinical synopsis from OMIM:

56
Metabolic:
maternal abnormal homocysteine metabolism.

Lab:
thermolabile form of mthfr

Misc:
increased (7-fold) risk for ntd
folate-sensitive

Clinical features from OMIM:

601634

Drugs & Therapeutics for Neural Tube Defects, Folate-Sensitive

Drugs for Neural Tube Defects, Folate-Sensitive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Trace Elements Phase 4
2 Vitamins Phase 4
3 Hematinics Phase 4
4 Nutrients Phase 4
5 Micronutrients Phase 4
6
leucovorin Approved Phase 3 58-05-9 6006 143
7
Drospirenone Approved Phase 3 67392-87-4 68873
8
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
9
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 11953898
10
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
11
Titanium dioxide Approved Phase 3 13463-67-7
12
Povidone Approved Phase 3 9003-39-8
13
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
14
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
15
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
16
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
17
Cobalamin Experimental Phase 3 13408-78-1 6857388
18 Vitamin B Complex Phase 3
19 Folate Phase 3
20 Vitamin B9 Phase 3
21 Mineralocorticoids Phase 3
22 Drospirenone and ethinyl estradiol combination Phase 3
23 Mineralocorticoid Receptor Antagonists Phase 3
24 diuretics Phase 3
25 Diuretics, Potassium Sparing Phase 3
26 Calcium, Dietary Phase 3
27 Vitamin B 12 Phase 3
28 Vitamin B12 Phase 3
29 Vitamin B 6 Phase 3
30 Antirheumatic Agents Phase 3
31 Analgesics, Non-Narcotic Phase 3
32 Fibrinolytic Agents Phase 3
33 Analgesics Phase 3
34 Platelet Aggregation Inhibitors Phase 3
35 Antipyretics Phase 3
36 Cyclooxygenase Inhibitors Phase 3
37 Anti-Inflammatory Agents Phase 3
38
Triacetin Phase 3 102-76-1 5541
39
Ethyl cellulose Phase 3 9004-57-3 24832091
40 Anti-Inflammatory Agents, Non-Steroidal Phase 3
41
Calcium Nutraceutical Phase 3 7440-70-2 271
42
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
43
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
44
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
45
Mycophenolic acid Approved Phase 2 24280-93-1 446541
46
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
47 Carbonic Anhydrase Inhibitors Phase 2
48 Immunologic Factors Phase 2
49 Antitubercular Agents Phase 2
50 Immunosuppressive Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 71)
# Name Status NCT ID Phase Drugs
1 Optimizing Periconceptional and Prenatal Folic Acid Supplementation Completed NCT02300948 Phase 4 PregVit® contains 1.1 mg of folic acid;PregVit-folic 5® contains 5 mg of folic acid
2 Randomized Clinical Trial to Evaluate the Efficacy of High Dose of Folic Acid to Prevent the Occurrence of Congenital Malformations Unknown status NCT01244347 Phase 3 folic acid;folic acid
3 Multi-Center, Randomized, Double-Blind Active-Controlled, Parallel Group Study to Investigate Plasma Folate, Red Blood Cell Folate and Homocysteine Levels During a 24 Week Oral Administration of an OC Containing Folate Compared to OC Alone Completed NCT00468481 Phase 3 Drospirenone/Ethinylestradiol/Methyltetrahydrofolate;Drospirenone/Ethinylestradiol (Yaz)
4 Prospective, Open-label, Single-center Clinical Study to Investigate the Red Blood Cell and Plasma Folate Concentrations During a 24-week Treatment Period With the Combination of Drospirenone 3 mg Plus Ethinyl Estradiol 0.02 mg Plus Levomefolate Calcium 0.451 mg in Mexican Women Seeking Contraception Completed NCT01902264 Phase 3 EE20/DRSP/L-5-MTHF (Beyaz, BAY98-7071)
5 Oral Cleft Prevention Program Completed NCT00397917 Phase 3 Folic acid: 4 mg versus 0.4 mg per day
6 Preventive Health Education for Women of Reproductive Age Completed NCT00177515 Phase 3
7 A Randomised Double Blind Study of the Effects of Homocysteine Lowering Therapy on Mortality and Cardiac Events in Patients Undergoing Coronary Angiography Completed NCT00354081 Phase 3 folic acid, vitamin B12 (cyanocobalamin), vitamin B6 (pyridoxine);folic acid, vitamin B12 (cyanocobalamin);vitamin B6 (pyridoxine);placebo
8 Valnoctamide as a Valproate Substitute With Low Teratogenic Potential: Double-Blind Controlled Clinical Trial Completed NCT00140179 Phase 3 valnoctamide
9 Investigating the Role of Early Low-dose Aspirin in Diabetes: A Phase III Multicentre Double-blinded Placebo-controlled Randomised Trial of Low-dose Aspirin Initiated in the First Trimester of Diabetes Pregnancy Not yet recruiting NCT03574909 Phase 3 Aspirin;Placebos
10 A Randomized, Double-Blind, Two-Part, Parallel-Group, Comparative Study to Evaluate Blood Folate Levels in Women Taking an Oral Contraceptive With and Without Folic Acid Withdrawn NCT00301587 Phase 3 Norgestimate-ethinyl estradiol, with or without folic acid
11 Evaluating the Effect of Acetazolamide Administration and Prone Positioning Following Lumbosacral Spinal Surgery in Preventing Cerebro Spinal Fluid Leakage and Collection and Wound Dehiscence in Children. Unknown status NCT01867268 Phase 2 Acetazolamide
12 Post Transplant Infusion of Allogeneic Cytokine Induced Killer Cells as Consolidative Therapy After Non-Myeloablative Allogeneic Transplantation in Patients With Myelodysplasia or Myeloproliferative Disorders Completed NCT01392989 Phase 2 CIK cells;Cyclosporine;Mycophenolate Mofetil;Thymoglobulin
13 Prevention of Neural Tube Defects by Inositol in Conjunction With Folic Acid (PONTI Study) Completed NCT00452829 Phase 1 Folic Acid and inositol;Folic acid and placebo
14 Study to Compare 2 Minimally Invasive Fetal Neural Tube Defect Repair Techniques: Repair Using Durepair Patch vs. Repair Without Durepair Patch Recruiting NCT03794011 Phase 1
15 Minimally Invasive Fetal Neural Tube Defect Repair Study Active, not recruiting NCT02230072 Phase 1
16 Genetics of Neural Tubes Defects Unknown status NCT01253746
17 Assessment of Functional Independence and Quality of Life in Italian Population of Adolescents With Spina Bifid Unknown status NCT00966927
18 Induction of Labor at Term Versus Expectant Management Among Women With Abnormal Maternal Serum Biochemical Markers: A Randomized Controlled Trial Unknown status NCT02754635
19 Powder Topical Rifampicin on Reducing Infections After Neural Tube Defect Surgery in Infants Unknown status NCT03198819 Local Rifampisin and İnrtravenous cefotaxime
20 The Spina Bifida Research Resource Unknown status NCT00031122
21 Effect of Psycho-education on Gestational Weight Gain and Anxiety/Depression in Obese Pregnant Women Unknown status NCT01329835
22 The LETS Study: A Longitudinal Evaluation of Transition Services Unknown status NCT00975338
23 Are IQs Low in Offspring of Euthyroid Women With Low T4? Unknown status NCT00147433
24 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
25 Medication Safety and Contraceptive Counseling for Reproductive Aged Women With Psychiatric Conditions Unknown status NCT02292056
26 Is Neutrophil to Lymphocyte Ratio a Prognostic Factor of Sepsis in Newborns With Operated Neural Tube Defects? Completed NCT04135274
27 The Hereditary Basis of Neural Tube Defects Completed NCT00636233
28 Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food Fortification Completed NCT00207558 folic acid
29 Efficacy of Weekly Versus Daily Folic Acid Supplementation Completed NCT00394862 multivitamin
30 Influence of "Espresso" on Adsorption of Orally Administrated Myo-inositol in Humans Completed NCT01244399
31 Fetal Spina Bifida -Prenatal Course and Outcome in 103 Cases A Single Center Experience. Completed NCT01100697
32 Investigation Into the Influence of Genetic Variation on Folate, Cobalamin and Related Metabolites Completed NCT00340366
33 Pilot Study of Folate Pharmacokinetics in Normal Weight and Obese Women of Child-bearing Age Completed NCT01743196
34 The Effect of Folic Acid Supplementation and Pregnancy on the Folate Forms in Red Blood Cells Completed NCT01741077
35 Follow-up Study of Late Effects of Periconceptional Folic Acid in Mothers and Offspring in the Community Intervention Program Population: The Chinese Children and Families Study Completed NCT01365975
36 Randomized Trial of 11-14 Week Amniocentesis and Transabdominal Chorionic Villus Sampling (TA CVS) Completed NCT00065897
37 Investigation of Vitamin Levels During Phototherapy Completed NCT03246308
38 Investigation the Incidence of Methylenetetrahydrofolate Reductase Deficiency in Ischemic Cerebrovascular Diseases Presenting With Epileptic Seizures in Adults Completed NCT04287881
39 Monitoring of Specific Birth Defects Associated With Exposure to Lamotrigine in Pregnancy Through the EUROCAT Network Completed NCT01055327 Lamotrigine monotherapy;No anti-epileptic drug exposure;Non lamotrigine anti-epileptic drug monotherapy
40 International Active Surveillance Study - Folate in Oral Contraceptives Utilization Study Completed NCT01266408
41 Myelomeningocele Repair Randomized Trial Completed NCT00060606
42 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
43 Fetal Alcohol Spectrum Disorder-Is This a Ciliopathy? Completed NCT03802708
44 Nutrition Intervention for the Promotion of Healthy Weight Gain During Pregnancy: The Revere Pregnancy Weight Management Study Completed NCT01056406
45 Analyses of Maternal Plasma Cadmium, Lead and Vanadium Levels in the Diagnosis and Severity of Late-onset Preeclampsia; A Prospective and Comparative Study From Turkey Completed NCT04200222
46 Walking and Dietary Modification for Women With Consecutive Early Miscarriages: a Randomized Study Completed NCT03023137
47 EnBrace HR for Depression Treatment and Prevention in Women Trying to Conceive and Early Pregnancy Completed NCT02676882
48 Identification of Early Predictors of Fetomaternal Hemorrhage And Development Of An Automated Screening Strategy For At-Risk Pregnancies Completed NCT01232387
49 In-Utero Endoscopic Correction of Spina Bifida: Laparotomy or Percutaneous Recruiting NCT04362592
50 In Utero Endoscopic Correction of Myelomeningocele: Laparotomy Versus Percutaneous - A Pilot Study Recruiting NCT03856034

Search NIH Clinical Center for Neural Tube Defects, Folate-Sensitive

Genetic Tests for Neural Tube Defects, Folate-Sensitive

Genetic tests related to Neural Tube Defects, Folate-Sensitive:

# Genetic test Affiliating Genes
1 Neural Tube Defects, Folate-Sensitive 29 MTHFD1 MTHFR MTR MTRR

Anatomical Context for Neural Tube Defects, Folate-Sensitive

MalaCards organs/tissues related to Neural Tube Defects, Folate-Sensitive:

40
Heart, Colon, Breast, Neutrophil, Placenta

Publications for Neural Tube Defects, Folate-Sensitive

Articles related to Neural Tube Defects, Folate-Sensitive:

(show all 34)
# Title Authors PMID Year
1
Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. 6 56
16552426 2006
2
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk. 56 6
16315005 2006
3
Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association. 6 56
15979034 2005
4
A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. 56 6
12384833 2002
5
Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. 6 56
12375236 2002
6
A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. 56 6
10444342 1999
7
Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. 56 6
10323741 1999
8
Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects. 6 56
9611072 1998
9
Genetic risk factors for placental abruption: a HuGE review and meta-analysis. 6
18277167 2008
10
The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population. 6
17894836 2007
11
Current perspectives on the genetic causes of neural tube defects. 56
16941185 2006
12
Crooked tail (Cd) model of human folate-responsive neural tube defects is mutated in Wnt coreceptor lipoprotein receptor-related protein 6. 56
16126904 2005
13
Human neural tube defects: developmental biology, epidemiology, and genetics. 56
15939212 2005
14
MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae. 6
15633187 2005
15
Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population. 56
15060097 2004
16
Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. 6
12923861 2003
17
Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors. 6
12154064 2002
18
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. 6
10930360 2000
19
Mouse models for neural tube closure defects. 56
10767323 2000
20
Neural-tube defects. 56
10559453 1999
21
Crooked tail (Cd) models human folate-responsive neural tube defects. 56
10545599 1999
22
Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. 6
10500018 1999
23
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. 6
9501215 1998
24
Human methionine synthase. cDNA cloning, gene localization, and expression. 6
9013615 1997
25
Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects? 56
9084933 1997
26
Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. 56
8986792 1996
27
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. 6
8968737 1996
28
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. 56
8826441 1996
29
Homocysteine and neural tube defects. 56
8598561 1996
30
Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. 56
8554053 1996
31
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. 56
7564788 1995
32
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. 56
7647779 1995
33
A Novel Time-Domain Descriptor for Improved Prediction of Upper Limb Movement Intent in EMG-PR System. 61
30441136 2018
34
Effect of tractor driving on hearing loss in farmers in India. 61
15776468 2005

Variations for Neural Tube Defects, Folate-Sensitive

ClinVar genetic disease variations for Neural Tube Defects, Folate-Sensitive:

6 (show top 50) (show all 112) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MTHFR NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln)SNV Benign/Likely benign, other 194071 rs2274976 1:11850927-11850927 1:11790870-11790870
2 MTHFR NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter)SNV Pathogenic 801438 1:11862941-11862941 1:11802884-11802884
3 MTHFR NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)SNV drug response 3520 rs1801133 1:11856378-11856378 1:11796321-11796321
4 MTRR NM_002454.3(MTRR):c.66A>G (p.Ile22Met)SNV drug response 7029 rs1801394 5:7870973-7870973 5:7870860-7870860
5 MTHFR NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala)SNV Conflicting interpretations of pathogenicity, other 3521 rs1801131 1:11854476-11854476 1:11794419-11794419
6 MTHFR NM_005957.4(MTHFR):c.1409A>T (p.Glu470Val)SNV Conflicting interpretations of pathogenicity 292235 rs142617551 1:11854085-11854085 1:11794028-11794028
7 MTHFR NM_005957.4(MTHFR):c.1378C>T (p.Leu460=)SNV Conflicting interpretations of pathogenicity 292236 rs200180238 1:11854116-11854116 1:11794059-11794059
8 MTHFR NM_005957.4(MTHFR):c.1761C>T (p.Ala587=)SNV Conflicting interpretations of pathogenicity 292232 rs115049252 1:11850947-11850947 1:11790890-11790890
9 MTHFR NM_005957.4(MTHFR):c.1134C>T (p.Thr378=)SNV Conflicting interpretations of pathogenicity 292237 rs767306503 1:11854818-11854818 1:11794761-11794761
10 MTHFR NM_005957.4(MTHFR):c.1556G>T (p.Arg519Leu)SNV Conflicting interpretations of pathogenicity 193686 rs45449298 1:11852411-11852411 1:11792354-11792354
11 MTHFR NM_005957.4(MTHFR):c.867C>A (p.Asp289Glu)SNV Uncertain significance 292241 rs139786244 1:11855319-11855319 1:11795262-11795262
12 MTHFR NM_005957.4(MTHFR):c.781-12T>CSNV Uncertain significance 292243 rs376833963 1:11855417-11855417 1:11795360-11795360
13 MTHFR NM_005957.4(MTHFR):c.-69_-63deldeletion Uncertain significance 292248 rs886045194 1:11865994-11866000 1:11805937-11805943
14 MTHFR NM_005957.4(MTHFR):c.*584C>TSNV Uncertain significance 292219 rs145253240 1:11850153-11850153 1:11790096-11790096
15 MTHFR NM_005957.4(MTHFR):c.*22G>ASNV Uncertain significance 292228 rs374747214 1:11850715-11850715 1:11790658-11790658
16 MTHFR NM_005957.4(MTHFR):c.*21C>TSNV Uncertain significance 292229 rs376616918 1:11850716-11850716 1:11790659-11790659
17 MTHFR NM_005957.4(MTHFR):c.1949C>T (p.Ala650Val)SNV Uncertain significance 292230 rs145544233 1:11850759-11850759 1:11790702-11790702
18 MTHFR NM_005957.4(MTHFR):c.1649A>G (p.Asn550Ser)SNV Uncertain significance 292234 rs781388555 1:11851367-11851367 1:11791310-11791310
19 MTHFR NM_005957.4(MTHFR):c.-15G>ASNV Uncertain significance 292247 rs886045193 1:11865946-11865946 1:11805889-11805889
20 MTHFR NM_005957.4(MTHFR):c.*3284G>ASNV Uncertain significance 292174 rs886045175 1:11847453-11847453 1:11787396-11787396
21 MTHFR NM_005957.4(MTHFR):c.*3028G>CSNV Uncertain significance 292180 rs528653413 1:11847709-11847709 1:11787652-11787652
22 MTHFR NM_005957.4(MTHFR):c.673A>G (p.Ile225Val)SNV Uncertain significance 292244 rs200100285 1:11856370-11856370 1:11796313-11796313
23 MTHFR NM_005957.4(MTHFR):c.371C>G (p.Thr124Ser)SNV Uncertain significance 292245 rs768248826 1:11861322-11861322 1:11801265-11801265
24 MTHFR NM_005957.4(MTHFR):c.*1018A>GSNV Uncertain significance 292212 rs886045187 1:11849719-11849719 1:11789662-11789662
25 MTHFR NM_005957.4(MTHFR):c.*2809T>CSNV Uncertain significance 292185 rs886045178 1:11847928-11847928 1:11787871-11787871
26 MTHFR NM_005957.4(MTHFR):c.*2657C>TSNV Uncertain significance 292189 rs371188005 1:11848080-11848080 1:11788023-11788023
27 MTHFR NM_005957.4(MTHFR):c.*2526C>TSNV Uncertain significance 292194 rs886045179 1:11848211-11848211 1:11788154-11788154
28 MTHFR NM_005957.4(MTHFR):c.*934G>ASNV Uncertain significance 292213 rs533406308 1:11849803-11849803 1:11789746-11789746
29 MTHFR NM_005957.4(MTHFR):c.*736C>GSNV Uncertain significance 292216 rs771578626 1:11850001-11850001 1:11789944-11789944
30 MTHFR NM_005957.4(MTHFR):c.*702deldeletion Uncertain significance 292218 rs775036001 1:11850035-11850035 1:11789978-11789978
31 MTHFR NM_005957.4(MTHFR):c.*2456G>ASNV Uncertain significance 292197 rs770536637 1:11848281-11848281 1:11788224-11788224
32 MTHFR NM_005957.4(MTHFR):c.*513C>TSNV Uncertain significance 292221 rs886045189 1:11850224-11850224 1:11790167-11790167
33 MTHFR NM_005957.4(MTHFR):c.*174deldeletion Uncertain significance 292225 rs776554158 1:11850563-11850563 1:11790506-11790506
34 MTHFR NM_005957.4(MTHFR):c.*1993C>TSNV Uncertain significance 292201 rs886045182 1:11848744-11848744 1:11788687-11788687
35 MTHFR NM_005957.4(MTHFR):c.*1860G>ASNV Uncertain significance 292202 rs886045183 1:11848877-11848877 1:11788820-11788820
36 MTHFR NM_005957.4(MTHFR):c.1861C>G (p.Leu621Val)SNV Uncertain significance 292231 rs770407631 1:11850847-11850847 1:11790790-11790790
37 MTHFR NM_005957.4(MTHFR):c.1011G>A (p.Gly337=)SNV Uncertain significance 292239 rs755483936 1:11855175-11855175 1:11795118-11795118
38 MTHFR NM_005957.4(MTHFR):c.870C>T (p.Asn290=)SNV Uncertain significance 292240 rs141769179 1:11855316-11855316 1:11795259-11795259
39 MTHFR NM_005957.4(MTHFR):c.813G>A (p.Leu271=)SNV Uncertain significance 292242 rs781214043 1:11855373-11855373 1:11795316-11795316
40 MTHFR NM_005957.4(MTHFR):c.*4884C>GSNV Uncertain significance 292149 rs886045165 1:11845853-11845853 1:11785796-11785796
41 MTHFR NM_005957.4(MTHFR):c.*4549G>CSNV Uncertain significance 292154 rs886045167 1:11846188-11846188 1:11786131-11786131
42 MTHFR NM_005957.4(MTHFR):c.*1234T>GSNV Uncertain significance 292211 rs886045186 1:11849503-11849503 1:11789446-11789446
43 MTHFR NM_005957.4(MTHFR):c.*732G>ASNV Uncertain significance 292217 rs749461588 1:11850005-11850005 1:11789948-11789948
44 MTHFR NM_005957.4(MTHFR):c.*372_*373insTACCinsertion Uncertain significance 292222 rs886045190 1:11850364-11850365 1:11790307-11790308
45 MTHFR NM_005957.4(MTHFR):c.*367_*369dupduplication Uncertain significance 292224 rs886045191 1:11850367-11850368 1:11790310-11790311
46 MTHFR NM_005957.4(MTHFR):c.*2801C>TSNV Uncertain significance 292187 rs116013353 1:11847936-11847936 1:11787879-11787879
47 MTHFR NM_005957.4(MTHFR):c.*2497G>ASNV Uncertain significance 292195 rs566663800 1:11848240-11848240 1:11788183-11788183
48 MTHFR NM_005957.4(MTHFR):c.*2053G>ASNV Uncertain significance 292200 rs143100671 1:11848684-11848684 1:11788627-11788627
49 MTHFR NM_005957.4(MTHFR):c.*1531C>TSNV Uncertain significance 292205 rs886045184 1:11849206-11849206 1:11789149-11789149
50 MTHFR NM_005957.4(MTHFR):c.*1422G>ASNV Uncertain significance 292206 rs138526324 1:11849315-11849315 1:11789258-11789258

UniProtKB/Swiss-Prot genetic disease variations for Neural Tube Defects, Folate-Sensitive:

73
# Symbol AA change Variation ID SNP ID
1 MTHFD1 p.Arg293His VAR_010241 rs34181110
2 MTHFD1 p.Arg653Gln VAR_010251 rs2236225

Expression for Neural Tube Defects, Folate-Sensitive

Search GEO for disease gene expression data for Neural Tube Defects, Folate-Sensitive.

Pathways for Neural Tube Defects, Folate-Sensitive

Pathways related to Neural Tube Defects, Folate-Sensitive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 MTRR MTR MTHFR MTHFD1
2
Show member pathways
11.59 MTRR MTR MTHFR MTHFD1
3
Show member pathways
11.5 MTRR MTR
4
Show member pathways
11.34 MTRR MTR
5
Show member pathways
11.08 MTRR MTR MTHFR MTHFD1
6 10.64 MTRR MTR
7
Show member pathways
9.76 MTRR MTR

GO Terms for Neural Tube Defects, Folate-Sensitive

Biological processes related to Neural Tube Defects, Folate-Sensitive according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.67 MTRR MTHFR MTHFD1
2 neural tube closure GO:0001843 9.48 MTHFR MTHFD1
3 one-carbon metabolic process GO:0006730 9.46 MTHFR MTHFD1
4 cobalamin metabolic process GO:0009235 9.43 MTRR MTR
5 cellular amino acid biosynthetic process GO:0008652 9.43 MTRR MTR MTHFD1
6 tetrahydrofolate interconversion GO:0035999 9.4 MTHFR MTHFD1
7 homocysteine metabolic process GO:0050667 9.37 MTRR MTHFR
8 folic acid metabolic process GO:0046655 9.33 MTRR MTHFR MTHFD1
9 sulfur amino acid metabolic process GO:0000096 9.32 MTRR MTR
10 methionine metabolic process GO:0006555 9.13 MTRR MTHFR MTHFD1
11 methionine biosynthetic process GO:0009086 8.92 MTRR MTR MTHFR MTHFD1

Molecular functions related to Neural Tube Defects, Folate-Sensitive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.43 MTRR MTHFR MTHFD1
2 flavin adenine dinucleotide binding GO:0050660 9.16 MTRR MTHFR
3 NADP binding GO:0050661 8.96 MTRR MTHFR
4 FAD binding GO:0071949 8.62 MTRR MTHFR

Sources for Neural Tube Defects, Folate-Sensitive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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