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:

(showing 421, show less)
# 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
51 occipital encephalocele 10.4
52 waardenburg's syndrome 10.3
53 chiari malformation type ii 10.3
54 clubfoot 10.3
55 holoprosencephaly 10.3
56 spina bifida cystica 10.3
57 scoliosis 10.3
58 microcephaly 10.3
59 cleft lip/palate 10.3
60 gastroschisis 10.3
61 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
62 hydrocephalus, congenital, 1 10.3
63 body mass index quantitative trait locus 1 10.3
64 lipomatosis, multiple 10.2
65 diastematomyelia 10.2
66 spondylocostal dysostosis 1, autosomal recessive 10.2
67 pleomorphic lipoma 10.2
68 spondylocostal dysostosis, autosomal recessive 10.2
69 congenital hydrocephalus 10.2
70 cleft lip with or without cleft palate 10.2
71 hair whorl 10.2
72 patau syndrome 10.2
73 neurogenic bladder 10.2
74 infertility 10.2
75 placenta disease 10.2
76 triploidy 10.2
77 renal hypodysplasia/aplasia 1 10.2
78 polydactyly 10.2
79 microphthalmia 10.2
80 gestational diabetes 10.2
81 hyperinsulinism 10.2
82 polyhydramnios 10.2
83 48,xyyy 10.2
84 strabismus 10.1
85 waardenburg syndrome, type 1 10.1
86 holoprosencephaly 1 10.1
87 malaria 10.1
88 fetal alcohol syndrome 10.1
89 alcohol-related birth defect 10.1
90 pre-eclampsia 10.1
91 heart septal defect 10.1
92 craniosynostosis 10.1
93 teratoma 10.1
94 mechanical strabismus 10.1
95 neural tube closure defect 10.1
96 isolated anencephaly 10.1
97 overgrowth syndrome 10.1
98 pernicious anemia 10.1
99 schizophrenia 10.1
100 anus, imperforate 10.1
101 body mass index quantitative trait locus 11 10.1
102 sacral defect with anterior meningocele 10.1
103 body mass index quantitative trait locus 9 10.1
104 branchiootic syndrome 1 10.1
105 body mass index quantitative trait locus 8 10.1
106 glycine encephalopathy 10.1
107 body mass index quantitative trait locus 4 10.1
108 body mass index quantitative trait locus 10 10.1
109 body mass index quantitative trait locus 7 10.1
110 body mass index quantitative trait locus 12 10.1
111 body mass index quantitative trait locus 14 10.1
112 body mass index quantitative trait locus 18 10.1
113 alacrima, achalasia, and mental retardation syndrome 10.1
114 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
115 body mass index quantitative trait locus 19 10.1
116 body mass index quantitative trait locus 20 10.1
117 autosomal recessive disease 10.1
118 pain agnosia 10.1
119 ectopic pregnancy 10.1
120 epilepsy 10.1
121 dysostosis 10.1
122 constipation 10.1
123 iron metabolism disease 10.1
124 embryonal carcinoma 10.1
125 cataract 10.1
126 encephalocele anencephaly 10.1
127 facial cleft 10.1
128 myelocystocele 10.1
129 ciliopathy 10.1
130 isolated exencephaly 10.1
131 nondisjunction 10.0 MTRR MTHFR
132 total spina bifida aperta 10.0 MTHFR MTHFD1
133 cervicothoracic spina bifida aperta 10.0 MTHFR MTHFD1
134 alcohol dependence 10.0
135 cerebrocostomandibular syndrome 10.0
136 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.0
137 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects 10.0
138 chromosome 2q35 duplication syndrome 10.0
139 digeorge syndrome 10.0
140 triiodothyronine receptor auxiliary protein 10.0
141 ureterocele 10.0
142 velocardiofacial syndrome 10.0
143 arachnoid cysts, intracranial 10.0
144 celiac disease 1 10.0
145 joubert syndrome 1 10.0
146 dandy-walker syndrome 10.0
147 hydrolethalus syndrome 1 10.0
148 osteogenic sarcoma 10.0
149 sudden infant death syndrome 10.0
150 orofaciodigital syndrome viii 10.0
151 brittle bone disorder 10.0
152 propionic acidemia 10.0
153 coronary heart disease 1 10.0
154 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.0
155 deficiency anemia 10.0
156 lissencephaly 10.0
157 walker-warburg syndrome 10.0
158 chorioamnionitis 10.0
159 anal fistula 10.0
160 latex allergy 10.0
161 rickets 10.0
162 hydronephrosis 10.0
163 heart disease 10.0
164 synostosis 10.0
165 obstructive hydrocephalus 10.0
166 vacterl association 10.0
167 atrial heart septal defect 10.0
168 cerebral palsy 10.0
169 thrombophilia 10.0
170 basal cell carcinoma 10.0
171 turner syndrome 10.0
172 nephrolithiasis 10.0
173 paraplegia 10.0
174 severe combined immunodeficiency 10.0
175 pyridoxine deficiency anemia 10.0
176 influenza 10.0
177 neuropathy 10.0
178 learning disability 10.0
179 hypopituitarism 10.0
180 47,xyy 10.0
181 spasticity 10.0
182 cerebrofacial arteriovenous metameric syndrome 10.0
183 inflammatory myopathy with abundant macrophages 10.0
184 parietal encephalocele 10.0
185 diprosopus 10.0
186 renal dysplasia 10.0
187 cervical spina bifida aperta 10.0 MTHFR MTHFD1
188 lumbosacral spina bifida aperta 10.0 MTHFR MTHFD1
189 thoracolumbosacral spina bifida aperta 10.0 MTHFR MTHFD1
190 upper thoracic spina bifida aperta 10.0 MTHFR MTHFD1
191 total spina bifida cystica 9.9 MTHFR MTHFD1
192 thoracolumbosacral spina bifida cystica 9.9 MTHFR MTHFD1
193 lumbosacral spina bifida cystica 9.9 MTHFR MTHFD1
194 cervical spina bifida cystica 9.9 MTHFR MTHFD1
195 cervicothoracic spina bifida cystica 9.9 MTHFR MTHFD1
196 upper thoracic spina bifida cystica 9.9 MTHFR MTHFD1
197 cardia cancer 9.9 MTRR MTHFR
198 prune belly syndrome 9.8
199 apert syndrome 9.8
200 cornelia de lange syndrome 1 9.8
201 spondylocostal dysostosis 5 9.8
202 lateral meningocele syndrome 9.8
203 multiple endocrine neoplasia, type i 9.8
204 frontonasal dysplasia 1 9.8
205 hand skill, relative 9.8
206 diaphragmatic hernia, congenital 9.8
207 hypertelorism 9.8
208 hypertriglyceridemia, familial 9.8
209 pallister-hall syndrome 9.8
210 ige responsiveness, atopic 9.8
211 cholestasis, intrahepatic, of pregnancy, 1 9.8
212 waardenburg syndrome, type 3 9.8
213 neurofibromatosis, type i 9.8
214 hemifacial microsomia 9.8
215 poland syndrome 9.8
216 polykaryocytosis inducer 9.8
217 currarino syndrome 9.8
218 rubinstein-taybi syndrome 1 9.8
219 shprintzen omphalocele syndrome 9.8
220 split-hand/foot malformation 1 9.8
221 telecanthus 9.8
222 vater/vacterl association 9.8
223 vesicoureteral reflux 1 9.8
224 acrocallosal syndrome 9.8
225 acrocephalopolydactylous dysplasia 9.8
226 carpenter syndrome 1 9.8
227 autism 9.8
228 c syndrome 9.8
229 charge syndrome 9.8
230 otospondylomegaepiphyseal dysplasia, autosomal recessive 9.8
231 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
232 constricting bands, congenital 9.8
233 corpus callosum, agenesis of, with facial anomalies and robin sequence 9.8
234 corpus callosum, agenesis of 9.8
235 craniotelencephalic dysplasia 9.8
236 fraser syndrome 1 9.8
237 cryptorchidism, unilateral or bilateral 9.8
238 diabetes mellitus, type i 9.8
239 donnai-barrow syndrome 9.8
240 dk phocomelia syndrome 9.8
241 epidermolysis bullosa junctionalis with pyloric atresia 9.8
242 fanconi anemia, complementation group a 9.8
243 fryns syndrome 9.8
244 galactosemia iii 9.8
245 galactosemia i 9.8
246 homocystinuria due to cystathionine beta-synthase deficiency 9.8
247 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.8
248 hydrocephalus with associated malformations 9.8
249 hypervitaminosis a 9.8
250 miller-dieker lissencephaly syndrome 9.8
251 muscular dystrophy-dystroglycanopathy , type a, 4 9.8
252 nephronophthisis 1 9.8
253 oeis complex 9.8
254 oliver syndrome 9.8
255 omphalocele-cleft palate syndrome, lethal 9.8
256 pancreatic cancer 9.8
257 phaver syndrome 9.8
258 meckel syndrome, type 7 9.8
259 roberts syndrome 9.8
260 tay-sachs disease 9.8
261 transcobalamin ii deficiency 9.8
262 alopecia, congenital 9.8
263 fragile x syndrome 9.8
264 corpus callosum, partial agenesis of, x-linked 9.8
265 otopalatodigital syndrome, type ii 9.8
266 focal dermal hypoplasia 9.8
267 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.8
268 melnick-needles syndrome 9.8
269 otopalatodigital syndrome, type i 9.8
270 thoracoabdominal syndrome 9.8
271 helicobacter pylori infection 9.8
272 kennerknecht syndrome 9.8
273 diaphragmatic defects, limb deficiencies, and ossification defects of skull 9.8
274 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction 9.8
275 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.8
276 folate level in erythrocytes 9.8
277 marshall-smith syndrome 9.8
278 craniomicromelic syndrome 9.8
279 citrullinemia, type ii, adult-onset 9.8
280 citrullinemia, type ii, neonatal-onset 9.8
281 meningioma, radiation-induced 9.8
282 meningioma, familial 9.8
283 meckel syndrome, type 3 9.8
284 anxiety 9.8
285 myocardial infarction 9.8
286 omphalocele, diaphragmatic hernia, and radial ray defects 9.8
287 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
288 chromosome 16p13.3 deletion syndrome, proximal 9.8
289 muscular dystrophy, congenital, lmna-related 9.8
290 gastric cancer 9.8
291 rubinstein-taybi syndrome 2 9.8
292 beta-thalassemia 9.8
293 muscle hypertrophy 9.8
294 dengue virus 9.8
295 leptin deficiency or dysfunction 9.8
296 smith-mccort dysplasia 2 9.8
297 short-rib thoracic dysplasia 10 with or without polydactyly 9.8
298 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
299 joint laxity, short stature, and myopia 9.8
300 helix syndrome 9.8
301 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 9.8
302 congenital hypothyroidism 9.8
303 brachydactyly 9.8
304 adams-oliver syndrome 9.8
305 cardiac arrest 9.8
306 fibrochondrogenesis 9.8
307 hereditary lymphedema i 9.8
308 chromosomal disease 9.8
309 keratoconus 9.8
310 thalassemia 9.8
311 esophageal atresia 9.8
312 glucose intolerance 9.8
313 hypospadias 9.8
314 respiratory failure 9.8
315 primary hyperparathyroidism 9.8
316 tetanus 9.8
317 spinal meningioma 9.8
318 hemopericardium 9.8
319 fuchs' endothelial dystrophy 9.8
320 prediabetes syndrome 9.8
321 cornelia de lange syndrome 9.8
322 pericardial effusion 9.8
323 myopia 9.8
324 hemosiderosis 9.8
325 detrusor sphincter dyssynergia 9.8
326 dengue disease 9.8
327 neutropenia 9.8
328 male infertility 9.8
329 severe pre-eclampsia 9.8
330 diarrhea 9.8
331 neurogenic bowel 9.8
332 hyperparathyroidism 9.8
333 cholestasis 9.8
334 eclampsia 9.8
335 bacteriuria 9.8
336 hypothyroidism 9.8
337 axenfeld-rieger syndrome 9.8
338 urticaria 9.8
339 impotence 9.8
340 dental caries 9.8
341 arteriosclerosis 9.8
342 macrocytic anemia 9.8
343 relapsing-remitting multiple sclerosis 9.8
344 hemangioma 9.8
345 corneal dystrophy 9.8
346 dermatitis 9.8
347 cystic lymphangioma 9.8
348 multiple endocrine neoplasia 9.8
349 lipid metabolism disorder 9.8
350 ischemia 9.8
351 syphilis 9.8
352 rhinitis 9.8
353 secretory meningioma 9.8
354 lymphoplasmacyte-rich meningioma 9.8
355 benign ependymoma 9.8
356 ovarian cyst 9.8
357 ureteral obstruction 9.8
358 urinary tract obstruction 9.8
359 cellular ependymoma 9.8
360 mature teratoma 9.8
361 peripheral nervous system disease 9.8
362 acquired immunodeficiency syndrome 9.8
363 inherited metabolic disorder 9.8
364 skin tag 9.8
365 neuroblastoma 9.8
366 hyperthyroidism 9.8
367 cocaine abuse 9.8
368 herpes simplex 9.8
369 multiple carboxylase deficiency 9.8
370 eating disorder 9.8
371 neurofibromatosis 9.8
372 decubitus ulcer 9.8
373 intracranial hypertension 9.8
374 meningitis 9.8
375 alopecia 9.8
376 muscular dystrophy 9.8
377 toxoplasmosis 9.8
378 hypoglycemia 9.8
379 heterotaxy 9.8
380 gnb1 encephalopathy 9.8
381 isolated methylmalonic acidemia 9.8
382 chromosome 20 trisomy 9.8
383 diaphragmatic hernia exomphalos corpus callosum agenesis 9.8
384 fetal macrosomia 9.8
385 knobloch syndrome 9.8
386 manouvrier syndrome 9.8
387 mollaret meningitis 9.8
388 phocomelia 9.8
389 sirenomelia 9.8
390 skeletal dysplasias 9.8
391 tetraploidy 9.8
392 trisomy 11 mosaicism 9.8
393 warfarin syndrome 9.8
394 dysphagia 9.8
395 hydromyelia 9.8
396 spinal cord injury 9.8
397 syringohydromyelia 9.8
398 posttransplant acute limbic encephalitis 9.8
399 short rib-polydactyly syndrome 9.8
400 isolated split hand-split foot malformation 9.8
401 partial hydatidiform mole 9.8
402 semilobar holoprosencephaly 9.8
403 rare hereditary hemochromatosis 9.8
404 ectopia cordis 9.8
405 central nervous system malformation 9.8
406 mosaic trisomy 5 9.8
407 midline interhemispheric variant of holoprosencephaly 9.8
408 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.8
409 thyroid carcinoma 9.8
410 methylmalonic aciduria and homocystinuria type cblg 9.8 MTRR MTR
411 methylmalonic aciduria and homocystinuria type cble 9.8 MTRR MTR
412 pediatric osteosarcoma 9.7 MTR MTHFR
413 urethritis 9.7 MTRR MTR
414 adult acute lymphocytic leukemia 9.6 MTR MTHFR
415 childhood leukemia 9.6 MTR MTHFR
416 colorectal adenoma 9.5 MTR MTHFR
417 methotrexate toxicity 9.4 MTRR MTR MTHFR
418 vitamin metabolic disorder 9.4 MTRR MTR MTHFR
419 amino acid metabolic disorder 9.4 MTRR MTR MTHFR
420 migraine with aura 9.4 MTRR MTR MTHFR
421 physical disorder 9.0 MTRR MTR MTHFR MTHFD1

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 (showing 2, show less)
# 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):

(showing 105, show less)
# 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
51 Antifungal Agents Phase 2
52 Dermatologic Agents Phase 2
53 Cyclosporins Phase 2
54 Thymoglobulin Phase 2
55 Antibiotics, Antitubercular Phase 2
56 Calcineurin Inhibitors Phase 2
57 Antilymphocyte Serum Phase 2
58
Cefoxitin Approved 35607-66-0 441199
59
Cefotaxime Approved 63527-52-6 5742673 456256
60
Rifampicin Approved 13292-46-1 5381226 5458213
61
Caffeine Approved 58-08-2 2519
62
Lamotrigine Approved, Investigational 84057-84-1 3878
63
Dienogest Approved 65928-58-7
64
Nitric Oxide Approved 10102-43-9 145068
65
Ethanol Approved 64-17-5 702
66
Vanadium Approved, Experimental 7440-62-2
67 Coconut Approved
68
Ondansetron Approved 99614-02-5 4595
69
Selenium Approved, Investigational, Vet_approved 7782-49-2
70
Zinc Approved, Investigational 7440-66-6 32051
71
Nicotinamide Approved, Investigational 98-92-0 936
72
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
73
Iodine Approved, Investigational 7553-56-2 807
74
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
75 Orange Approved
76
Copper Approved, Investigational 7440-50-8 27099
77
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
78
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
79
Thiamine Approved, Investigational, Nutraceutical, Vet_approved 59-43-8, 70-16-6 1130
80
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
81
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
82
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
83
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
84 Tocotrienol Investigational 6829-55-6
85 Anticonvulsants
86 Sodium Channel Blockers
87 Psychotropic Drugs
88 calcium channel blockers
89 Progestins
90 Antiemetics
91 Antidepressive Agents
92 Omega 3 Fatty Acid
93 Antipsychotic Agents
94 Copper Supplement
95 Retinol palmitate
96 retinol
97 Nicotinic Acids
98 Thiamin
99 Tocopherols
100 Vitamin B3
101 Tocotrienols
102 cadexomer iodine
103 Calciferol
104 Vitamin B2
105 Cola

Interventional clinical trials:

(showing 71, show less)
# 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
51 National Pregnancy Registry for Atypical Antipsychotics Recruiting NCT01246765
52 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637
53 Effectiveness of Comprehensive Tertiary Interventions on Incidence and Clinical Outcomes of Birth Defects : a Cluster Randomisation Intervention Trial Recruiting NCT03725878
54 Automated Myocardial Performance Index Before, During and After Fetal Surgeries Using Samsung HERA W10 Recruiting NCT04140669
55 Mobile Health Self-Management and Support System for Chronic and Complex Health Conditions (Component 3) Recruiting NCT02592291
56 Periconceptional Surveillance for Prevention of Anemia and Birth Defects in India Recruiting NCT04048330
57 A Comparison of Two Different Doses of Maternal B12 Supplementation in Improving Infant B12 Deficiency and Neurodevelopment Recruiting NCT04083560 Vit B12
58 Formative Research on the Use of Egg as a Nutritional Supplement for Young Bangladeshi Children and Breast Milk Nutrient Content of Bangladeshi Women Recruiting NCT03140696
59 Effects of Vitamin B12 Fortified Milk Supplementation During Pregnancy and 6 Month Postpartum to Improve B12 Status and Child Development Recruiting NCT03258385
60 Knowledge and Follow-up of Vitamin B9 Supplementation Recommendations for Women in the Periconceptional Period to Prevent Neural Tube Closure Defects: a Study Conducted With Health Professionnals and Women Who Have Just Given Birth in Rennes CHU. Recruiting NCT04195542
61 Optimizing Pregnancy and Treatment Interventions for Moms 2.0 Recruiting NCT03833245
62 Efficacy and Safety of Nerve Root Axial Decompression Surgery in The Treatment of Tethered Cord Syndrome: A Conservative Treatment- Controlled, Randomized, Clinical Study Recruiting NCT03262844
63 Study of Fetoscopic Repair of Myelomeningocele in Fetuses With Isolated Spina Bifida Recruiting NCT03090633
64 Impact of Pre-Pregnancy Micronutrient Supplementation on Maternal and Child Outcomes Active, not recruiting NCT01665378
65 Factors Affecting Colonic Folate Absorption and Metabolism in Humans Active, not recruiting NCT03421483
66 Minimally Invasive Fetoscopic Regenerative Repair of Spina Bifida - A Pilot Study Enrolling by invitation NCT03936322
67 EVALUATION OF THE SAFETY AND EFFICACY OF ADJUSTABLE CONTINENT THERAPY FOR THE MANAGEMENT OF NEUROGENIC INCONTINENCE IN CHILDREN WITH SPINAL DYSRAPHISM. Not yet recruiting NCT03351634
68 A Randomized Controlled Trial to Study the Effect of Folic Acid Supplementation in Pregnant Women Having Thalassaemia Trait Not yet recruiting NCT04310059
69 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Terminated NCT00341068
70 Open Fetal Myelomeningocele Repair With Maternal BMI Between 35.0 And 40.0 Terminated NCT03044821
71 Feasibility of Identifying the Chinese Community Intervention Program (CIP) Population and Eligible Incident Pediatric Cancer Cases, and Linking the Cases to the Population to Assess the Role of Periconceptional Folic Acid Supplements in Risk of Pediatric Cancer (Pilot #N3) Withdrawn NCT02160795

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:

(showing 34, show less)
# 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 (showing 112, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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
51 MTHFR NM_005957.4(MTHFR):c.*1389G>ASNV Uncertain significance 292207 rs750033466 1:11849348-11849348 1:11789291-11789291
52 MTHFR NM_001010881.2(C1orf167):c.3568-774_3568-767deldeletion Uncertain significance 292165 rs55780505 1:11846660-11846667 1:11786603-11786610
53 MTHFR NM_005957.4(MTHFR):c.*4489T>CSNV Uncertain significance 292157 rs886045169 1:11846248-11846248 1:11786191-11786191
54 MTHFR NM_005957.4(MTHFR):c.*4421T>CSNV Uncertain significance 292159 rs886045170 1:11846316-11846316 1:11786259-11786259
55 MTHFR NM_005957.4(MTHFR):c.*3219C>TSNV Uncertain significance 292175 rs566155977 1:11847518-11847518 1:11787461-11787461
56 MTHFR NM_005957.4(MTHFR):c.*4084G>ASNV Uncertain significance 292163 rs575577732 1:11846653-11846653 1:11786596-11786596
57 MTHFR NM_001010881.2(C1orf167):c.3568-768_3568-767dupduplication Uncertain significance 292166 rs55780505 1:11846659-11846660 1:11786602-11786603
58 MTHFR NM_005957.4(MTHFR):c.*3189T>GSNV Uncertain significance 292176 rs886045176 1:11847548-11847548 1:11787491-11787491
59 MTHFR NM_005957.4(MTHFR):c.*2594C>TSNV Uncertain significance 292192 rs41275468 1:11848143-11848143 1:11788086-11788086
60 MTHFR NM_005957.4(MTHFR):c.*4267T>ASNV Uncertain significance 292161 rs886045171 1:11846470-11846470 1:11786413-11786413
61 MTHFR NM_005957.4(MTHFR):c.*2474_*2476deldeletion Uncertain significance 292196 rs886045180 1:11848261-11848263 1:11788204-11788206
62 MTHFR NM_005957.4(MTHFR):c.*2301C>TSNV Uncertain significance 292198 rs577635601 1:11848436-11848436 1:11788379-11788379
63 MTHFR NM_005957.4(MTHFR):c.*1294G>ASNV Uncertain significance 292208 rs375481053 1:11849443-11849443 1:11789386-11789386
64 MTHFR NM_001010881.2(C1orf167):c.3568-768_3568-765deldeletion Uncertain significance 292167 rs886045172 1:11846676-11846679 1:11786619-11786622
65 MTHFR NM_005957.4(MTHFR):c.*4798C>TSNV Uncertain significance 292150 rs886045166 1:11845939-11845939 1:11785882-11785882
66 MTHFR NM_005957.4(MTHFR):c.*4900C>TSNV Uncertain significance 292148 rs539181268 1:11845837-11845837 1:11785780-11785780
67 MTHFR NM_005957.4(MTHFR):c.*2805A>GSNV Uncertain significance 292186 rs116698217 1:11847932-11847932 1:11787875-11787875
68 MTHFR NM_005957.4(MTHFR):c.*2653C>TSNV Uncertain significance 292190 rs564466007 1:11848084-11848084 1:11788027-11788027
69 MTHFR NM_005957.4(MTHFR):c.*2553G>ASNV Uncertain significance 292193 rs539472116 1:11848184-11848184 1:11788127-11788127
70 MTHFR NM_005957.4(MTHFR):c.*2222C>TSNV Uncertain significance 292199 rs886045181 1:11848515-11848515 1:11788458-11788458
71 MTHFR NM_005957.4(MTHFR):c.*1285T>GSNV Uncertain significance 292210 rs886045185 1:11849452-11849452 1:11789395-11789395
72 MTHFR NM_005957.4(MTHFR):c.*866C>TSNV Uncertain significance 292214 rs60350681 1:11849871-11849871 1:11789814-11789814
73 MTHFR NM_005957.4(MTHFR):c.*817G>ASNV Uncertain significance 292215 rs886045188 1:11849920-11849920 1:11789863-11789863
74 MTHFR NM_005957.4(MTHFR):c.*121C>GSNV Uncertain significance 292226 rs531577946 1:11850616-11850616 1:11790559-11790559
75 MTHFR NM_005957.4(MTHFR):c.*109C>TSNV Uncertain significance 292227 rs886045192 1:11850628-11850628 1:11790571-11790571
76 MTHFR NM_005957.5(MTHFR):c.1753-18dupduplication Uncertain significance 292233 rs758514539 1:11850968-11850969 1:11790911-11790912
77 MTR NM_000254.2(MTR):c.1862A>G (p.Asp621Gly)SNV Uncertain significance 579433 rs61736440 1:237016297-237016297 1:236852997-236852997
78 MTHFR NM_005957.4(MTHFR):c.1004G>A (p.Arg335His)SNV Uncertain significance 187886 rs543016186 1:11855182-11855182 1:11795125-11795125
79 MTHFR NM_005957.4(MTHFR):c.*4679C>TSNV Uncertain significance 292152 rs185982649 1:11846058-11846058 1:11786001-11786001
80 MTHFR NM_005957.4(MTHFR):c.*4506T>GSNV Uncertain significance 292155 rs886045168 1:11846231-11846231 1:11786174-11786174
81 MTHFR NM_005957.4(MTHFR):c.*4505C>TSNV Uncertain significance 292156 rs369609825 1:11846232-11846232 1:11786175-11786175
82 MTHFR NM_005957.4(MTHFR):c.*4168A>CSNV Uncertain significance 292162 rs774295533 1:11846569-11846569 1:11786512-11786512
83 MTHFR NM_005957.4(MTHFR):c.*4041G>ASNV Uncertain significance 292168 rs886045173 1:11846696-11846696 1:11786639-11786639
84 MTHFR NM_005957.4(MTHFR):c.*3963G>CSNV Uncertain significance 292170 rs886045174 1:11846774-11846774 1:11786717-11786717
85 MTHFR NM_005957.4(MTHFR):c.*3158G>ASNV Uncertain significance 292177 rs886045177 1:11847579-11847579 1:11787522-11787522
86 MTHFR NM_005957.4(MTHFR):c.*3088C>TSNV Uncertain significance 292178 rs538074274 1:11847649-11847649 1:11787592-11787592
87 MTHFR NM_005957.4(MTHFR):c.*3046G>ASNV Uncertain significance 292179 rs569629260 1:11847691-11847691 1:11787634-11787634
88 MTHFR NM_005957.4(MTHFR):c.*2965C>ASNV Likely benign 292182 rs3820192 1:11847772-11847772 1:11787715-11787715
89 MTHFR NM_005957.4(MTHFR):c.*2835G>TSNV Likely benign 292184 rs1537515 1:11847902-11847902 1:11787845-11787845
90 MTHFR NM_005957.4(MTHFR):c.*2598C>TSNV Likely benign 292191 rs11559040 1:11848139-11848139 1:11788082-11788082
91 MTHFR NM_005957.4(MTHFR):c.*4791G>ASNV Likely benign 292151 rs12023469 1:11845946-11845946 1:11785889-11785889
92 MTHFR NM_005957.4(MTHFR):c.*3288C>TSNV Likely benign 292173 rs3737967 1:11847449-11847449 1:11787392-11787392
93 MTHFR NM_001010881.2(C1orf167):c.3568-770_3568-767deldeletion Likely benign 292164 rs55780505 1:11846660-11846663 1:11786603-11786606
94 MTHFR NM_001010881.2(C1orf167):c.3568-108_3568-106dupduplication Likely benign 292171 rs35134728 1:11847334-11847335 1:11787277-11787278
95 MTHFR NM_005957.4(MTHFR):c.*3301A>GSNV Likely benign 292172 rs2184226 1:11847436-11847436 1:11787379-11787379
96 MTHFR NM_005957.4(MTHFR):c.*2669C>GSNV Likely benign 292188 rs1537514 1:11848068-11848068 1:11788011-11788011
97 MTHFR NM_005957.4(MTHFR):c.*3995G>ASNV Likely benign 292169 rs2184227 1:11846742-11846742 1:11786685-11786685
98 MTHFR NM_005957.4(MTHFR):c.*2876C>TSNV Likely benign 292183 rs1537516 1:11847861-11847861 1:11787804-11787804
99 MTHFR NM_005957.4(MTHFR):c.*543G>ASNV Likely benign 292220 rs45625835 1:11850194-11850194 1:11790137-11790137
100 MTHFR NM_005957.4(MTHFR):c.*4485C>TSNV Likely benign 292158 rs4846048 1:11846252-11846252 1:11786195-11786195
101 MTHFR NM_005957.4(MTHFR):c.*2978G>ASNV Likely benign 292181 rs3737966 1:11847759-11847759 1:11787702-11787702
102 MTHFR NM_005957.4(MTHFR):c.*372A>CSNV Likely benign 292223 rs4846049 1:11850365-11850365 1:11790308-11790308
103 MTHFR NM_005957.4(MTHFR):c.*1765C>TSNV Likely benign 292204 rs72640221 1:11848972-11848972 1:11788915-11788915
104 MTHFR NM_005957.4(MTHFR):c.1056C>T (p.Ser352=)SNV Benign/Likely benign 292238 rs2066462 1:11854896-11854896 1:11794839-11794839
105 MTHFR NM_005957.4(MTHFR):c.117C>T (p.Pro39=)SNV Benign/Likely benign 292246 rs2066470 1:11863057-11863057 1:11803000-11803000
106 MTHFR NM_005957.4(MTHFR):c.*1290T>CSNV Benign 292209 rs868014 1:11849447-11849447 1:11789390-11789390
107 MTHFR NM_005957.4(MTHFR):c.*4290C>TSNV Benign 292160 rs4845884 1:11846447-11846447 1:11786390-11786390
108 MTHFR NM_005957.4(MTHFR):c.*1858T>CSNV Benign 292203 rs2077360 1:11848879-11848879 1:11788822-11788822
109 MTHFR NM_001010881.2(C1orf167):c.3567+757dupduplication Benign 292153 rs55740775 1:11846092-11846093 1:11786035-11786036
110 MTHFD1 NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln)SNV Benign 13633 rs2236225 14:64908845-64908845 14:64442127-64442127
111 MTR NM_000254.2(MTR):c.2756A>G (p.Asp919Gly)SNV Benign 138289 rs1805087 1:237048500-237048500 1:236885200-236885200
112 MTHFR NM_005957.4(MTHFR):c.1305C>T (p.Phe435=)SNV Benign 167306 rs4846051 1:11854457-11854457 1:11794400-11794400

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

73 (showing 2, show less)
# 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