Categories: Fetal diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myelomeningocele

MalaCards integrated aliases for Myelomeningocele:

Name: Myelomeningocele 12 20 58 54 3 15
Meningomyelocele 20 44 17


Orphanet epidemiological data:

Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;


Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 12 DOID:0060326
MeSH 44 D008591
SNOMED-CT 67 268308005 7096005
ICD10 32 Q05
UMLS via Orphanet 71 C0025312
Orphanet 58 ORPHA93969
UMLS 70 C0025312 C0086664 C0751316

Summaries for Myelomeningocele

GARD : 20 Myelomeningocele occurs when the spine and spinal cord do not form correctly during early development, causing a condition known as spina bifida. Myelomeningocele is the most serious form of spina bifida. It happens when parts of the spinal cord and nerves pop out through the open part of the spine. This leads to spinal cord and spinal nerve damage and other disabilities. Symptoms of a myelomeningocele include a decreased ability to feel sensation below the opening in the spine. Other symptoms include decreased leg movement and the inability to control the bladder and bowels. Many children with this condition develop too much fluid around the brain ( hydrocephalus ). Without treatment, this can lead to brain damage. The cause of myelomeningocele is unknown. Both genetic and environmental factors are thought to be involved. Low levels of folic acid during early pregnancy are known to contribute to the occurrence of spina bifida and myelomeningocele. During pregnancy, myelomeningocele is often diagnosed due to an abnormal alpha fetoprotein screening test. Imaging studies such as a fetal ultrasound done during pregnancy or an MRI or CT scan done after birth are also used. Treatment is focused on managing the symptoms and typically involves surgery to close the opening in the spine. Options for surgery include fetal surgery done during pregnancy or surgery done shortly after the baby is born.

MalaCards based summary : Myelomeningocele, also known as meningomyelocele, is related to neural tube defects, folate-sensitive and tethered spinal cord syndrome. An important gene associated with Myelomeningocele is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and One carbon pool by folate. The drugs Acetylcholine and Oxybutynin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and skin, and related phenotypes are growth/size/body region and cardiovascular system

Disease Ontology : 12 A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.

CDC : 3 Spina bifida is a condition that affects the spine and is usually apparent at birth. It is a type of neural tube defect (NTD). Spina bifida can happen anywhere along the spine if the neural tube does not close all the way. When the neural tube doesn't close all the way, the backbone that protects the spinal cord doesn't form and close as it should. This often results in damage to the spinal cord and nerves. Spina bifida might cause physical and intellectual disabilities that range from mild to severe. The severity depends on: The size and location of the opening in the spine. Whether part of the spinal cord and nerves are affected.

Wikipedia : 73 Spina bifida (Latin for "split spine"; SB) is a birth defect in which there is incomplete closing of the... more...

Related Diseases for Myelomeningocele

Diseases related to Myelomeningocele via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 409)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 31.7 MTRR MTR MTHFR MTHFD1
2 tethered spinal cord syndrome 31.1 VANGL1 MTHFD1
3 placental abruption 30.6 MTRR MTHFR MTHFD1
4 spina bifida occulta 30.2 VANGL2 VANGL1 MTHFR MTHFD1
5 strabismus 30.0 VANGL2 VANGL1 PRICKLE1 NGF CELSR1
6 omphalocele 30.0 SLC19A1 MTHFR MTHFD1
7 ocular motility disease 29.9 VANGL2 VANGL1 CELSR1
8 cleft lip/palate 29.9 MTRR MTR MTHFR
9 vitamin b12 deficiency 29.9 MTRR MTR MTHFR
10 homocysteinemia 29.6 SLC19A1 MTRR MTR MTHFR
11 cleft lip 29.5 SLC19A1 MTRR MTR MTHFR
12 down syndrome 29.2 SOD1 SLC19A1 MTRR MTR MTHFR
13 anencephaly 28.5 VANGL2 VANGL1 SLC25A32 SCRIB PRICKLE1 MTRR
14 neural tube defects 28.5 VANGL2 VANGL1 TBXT SLC25A32 SLC19A1 SCRIB
15 chiari malformation type ii 11.2
16 chiari malformation 11.2
17 meningocele 11.1
18 schwartz cohen-addad lambert syndrome 11.0
19 ankyloblepharon filiforme imperforate anus 11.0
20 hydrocephalus 10.9
21 phaver syndrome 10.9
22 otopalatodigital syndrome, type ii 10.9
23 heterotaxy, visceral, 1, x-linked 10.9
24 chromosome 15q24 deletion syndrome 10.9
25 congenital laryngeal palsy 10.9
26 orofaciodigital syndrome 12 10.9
27 scoliosis 10.7
28 neurogenic bladder 10.6
29 urinary tract infection 10.5
30 vesicoureteral reflux 1 10.4
31 syringomyelia, noncommunicating isolated 10.4
32 syringomyelia 10.4
33 spinal cord injury 10.4
34 isolated anencephaly 10.4 VANGL2 MTHFR
35 isolated exencephaly 10.4 VANGL2 MTHFR
36 exencephaly 10.4 VANGL2 MTHFR
37 paraplegia 10.4
38 hydronephrosis 10.4
39 spasticity 10.4
40 clubfoot 10.3
41 sudden sensorineural hearing loss 10.3 MTR MTHFR
42 nondisjunction 10.3 MTRR MTHFR
43 methylmalonic aciduria and homocystinuria type cblg 10.3 MTRR MTR
44 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.3 MTR MTHFR
45 methylmalonic aciduria and homocystinuria type cble 10.3 MTRR MTR
46 acute cystitis 10.3
47 constipation 10.3
48 spina bifida aperta 10.3
49 intracranial vasospasm 10.3 MTR MTHFR
50 ophthalmia neonatorum 10.3 MTRR MTR

Graphical network of the top 20 diseases related to Myelomeningocele:

Diseases related to Myelomeningocele

Symptoms & Phenotypes for Myelomeningocele

MGI Mouse Phenotypes related to Myelomeningocele:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 CELSR1 DACT1 FOLR1 GFAP MTHFD1 MTHFR
2 cardiovascular system MP:0005385 10.33 DACT1 FOLR1 GFAP MTHFD1 NGF PAX3
3 mortality/aging MP:0010768 10.33 CELSR1 DACT1 FOLR1 GFAP MTHFD1 MTHFR
4 embryo MP:0005380 10.29 CELSR1 DACT1 FOLR1 MTHFD1 PAX3 PRICKLE1
5 nervous system MP:0003631 10.24 CELSR1 DACT1 FOLR1 GFAP MTHFD1 MTHFR
6 digestive/alimentary MP:0005381 10.18 DACT1 FOLR1 GFAP PAX3 PRICKLE1 SCRIB
7 limbs/digits/tail MP:0005371 10.17 CELSR1 DACT1 FOLR1 MTHFD1 MTHFR PAX3
8 craniofacial MP:0005382 10.14 CELSR1 FOLR1 PAX3 PRICKLE1 SCRIB SLC25A32
9 integument MP:0010771 10.11 CELSR1 MTHFR NGF PAX3 PRICKLE1 SLC19A1
10 hearing/vestibular/ear MP:0005377 10.08 CELSR1 FOLR1 PAX3 PRICKLE1 SCRIB SOD1
11 no phenotypic analysis MP:0003012 9.92 DACT1 MTHFR NGF PAX3 PRICKLE1 SCRIB
12 renal/urinary system MP:0005367 9.86 DACT1 FOLR1 PAX3 PRICKLE1 SCRIB SLC19A1
13 reproductive system MP:0005389 9.85 CELSR1 DACT1 FOLR1 MTHFR SCRIB SLC19A1
14 skeleton MP:0005390 9.65 CELSR1 DACT1 MTHFR PAX3 PRICKLE1 SCRIB
15 vision/eye MP:0005391 9.32 CELSR1 FOLR1 GFAP MTHFR NGF PAX3

Drugs & Therapeutics for Myelomeningocele

Drugs for Myelomeningocele (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
3 Neurotransmitter Agents Phase 4
4 abobotulinumtoxinA Phase 4
5 Cholinergic Agents Phase 4
6 Botulinum Toxins, Type A Phase 4
7 Botulinum Toxins Phase 4
8 Anti-Bacterial Agents Phase 1, Phase 2
9 Antibiotics, Antitubercular Phase 1, Phase 2
10 Analgesics Phase 1, Phase 2
Methenamine Approved, Vet_approved Phase 1 100-97-0 4101
12 Methenamine mandelate Phase 1
13 Methenamine hippurate Phase 1
14 Acidophilus Phase 1
Nitrous oxide Approved, Vet_approved 10024-97-2 948
Atosiban Approved, Investigational 90779-69-4
Terbutaline Approved 23031-25-6 5403
tannic acid Approved 1401-55-4
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
Imidacloprid Vet_approved 105827-78-9 86418
21 glucocorticoids
22 Respiratory System Agents
23 Anti-Asthmatic Agents
24 Adrenergic beta-Agonists
25 Hormones
26 Adrenergic Agonists
27 Hormone Antagonists
28 Adrenergic Agents
29 Tocolytic Agents
30 Sympathomimetics
31 Bronchodilator Agents
32 Anesthetics
33 Pharmaceutical Solutions
34 Calamus

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 Phase 4 Study of the Effect of Botulinum-A Toxin Injected in Neurogenic Overactive Bladders of Children Born With Myelomeningocele Unknown status NCT00175123 Phase 4 Botulinum A toxin
2 Phase 1/2a Trial of Placental Mesenchymal Stem Cells for Repair of Fetal Myelomeningocele Recruiting NCT04652908 Phase 1, Phase 2
3 Bacteriuria Eradication Through Probiotics Unknown status NCT00717600 Phase 1
4 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
5 Minimally Invasive Fetal Neural Tube Defect Repair Study Active, not recruiting NCT02230072 Phase 1
6 Open Spina Bifida Fetoscopic Repair Project Unknown status NCT03562286
7 NSC Assistive Technology Research: Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407
8 Changes in the Cuff Pressure in Infants in the Absence of Nitrous Oxide Unknown status NCT03088761
9 Qualitative In-depth Interviews With Women and Their Partners Concerning the Acceptability of Fetal Surgery Unknown status NCT03788122
10 Impact of Prenatal Correction of Spina Bifida Using Fetoscopy and the SAFER Technique on Long-term Neurodevelopment. Completed NCT04356703
11 Myelomeningocele Repair Randomized Trial Completed NCT00060606
12 Risk Factors Associated With Spontaneous Preterm Delivery Status Post Open Fetal Myelomeningocele Repair Completed NCT03073382
13 Efficacy Of Pulsed Electromagnetic Field Therapy On Neurogenic Bladder in Children With Myelomeningocele Completed NCT04187027
14 Daily Physical Activity in Children and Adolescents With Low Lumbar and Sacral Level Myelomeningocele Completed NCT04186338
15 Can Dynamic Ultrasonography Replace Urodynamics in the Follow-up of Patients With Myelomeningocele: A Prospective Concurrent Study Completed NCT03550898
16 Reliability of the Melbourne Assessment Completed NCT02595411
17 Brain Function and White Matter Changes in Congenital, Acute and Chronic Spinal Cord Lesions Completed NCT01208584
18 Feasibility of a Home-based Interactive System for Upper Limb Therapy (YouGrabber) Completed NCT02368223
19 In Utero Endoscopic Correction of Myelomeningocele: Laparotomy Versus Percutaneous - A Pilot Study Recruiting NCT03856034
20 Epigenetic Alterations in Stress Regulation Genes Among Newborns After Fetal Surgery for Myelomeningocele Repair: An Exploratory Study Recruiting NCT04027374
21 Extended Criteria For Fetal Myelomeningocele Repair: A Pilot Study Recruiting NCT02664207
22 Assessment of Maternal Blood Gas Changes When Using Atosiban and Terbutaline as Tocolytic Agents, During in Utero Repair of Myelomeningocele Recruiting NCT04468568 Atosiban;Terbutaline
23 Efficacy of Contrast Enhanced Voiding Urosonography for Urodynamic Studies Recruiting NCT04738539 Contrast Enhanced Voiding Urosonography with Urodynamic Testing
24 Prenatal Endoscopic Repair of Fetal Spina Bifida Recruiting NCT02390895
25 Sleep-disordered Breathing in Infants With Myelomeningocele Recruiting NCT04251806
26 Early Feasibility Study of Fetoscopic Myelomeningocele Repair Using a Cryopreserved Human Umbilical Cord Allograft (NEOX Cord 1K®) as a Meningeal Patch Recruiting NCT04243889
27 Study of Fetoscopic Repair of Myelomeningocele in Fetuses With Isolated Spina Bifida Recruiting NCT03090633
28 A Patient-centered Approach to Urinary Incontinence and Quality of Life in Children and Adolescents With Spina Bifida Recruiting NCT03410667
29 In-Utero Endoscopic Correction of Spina Bifida: Laparotomy or Percutaneous Recruiting NCT04362592
30 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637
31 Maternal-fetal Immune Responses to Fetal Surgery Recruiting NCT04484441
32 Long Term Assessment and Outcome of Adult Patients With Congenital Genitourinary Abnormalities. Recruiting NCT03061084
33 Prenatal Surgical Repair of Fetal Myelomeningocele Active, not recruiting NCT01983345
34 Minimally Invasive Fetoscopic Regenerative Repair of Spina Bifida - A Pilot Study Active, not recruiting NCT03936322
35 Ready, Set, Go! A Physical Fitness Intervention for Children With Mobility Challenges Enrolling by invitation NCT04789746
36 The Effects of Physical Therapy Associated With Photobiomodulation on Functional Performance in Children With Low Lumbar and Sacral Myelomeningocele - A Randomized, Blinded Clinical Trial. Not yet recruiting NCT04425330
37 In Utero Fetoscopic Repair Program for Sacral Myelomeningoceles and Mye-LDM Not yet recruiting NCT04770805
39 Fetal Myelomeningocele Repair With Maternal BMI Between 35.0 and 40.0 Terminated NCT02509377
40 Evaluation of Hysterotomy Site After Open Fetal Surgery Terminated NCT02493062
41 Open Fetal Myelomeningocele Repair With Maternal BMI Between 35.0 And 40.0 Terminated NCT03044821

Search NIH Clinical Center for Myelomeningocele

Cochrane evidence based reviews: meningomyelocele

Genetic Tests for Myelomeningocele

Anatomical Context for Myelomeningocele

MalaCards organs/tissues related to Myelomeningocele:

Spinal Cord, Brain, Skin, Heart, Kidney, Cerebellum, Placenta

Publications for Myelomeningocele

Articles related to Myelomeningocele:

(show top 50) (show all 4548)
# Title Authors PMID Year
Homocysteine, folate, lipid profile and MTHFR genotype and disability in children with myelomeningocele. 61 54
16602021 2006
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. 61 54
17035141 2006
MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor? 61 54
16602006 2006
No evidence for heterozygote advantage at MTHFR in patients with lumbosacral myelomeningocele or their relatives. 61 54
14726815 2004
The effect of C677T mutation of methylene tetrahydrofolate reductase gene and plasma folate level on hyperhomocysteinemia in patients with meningomyelocele. 61 54
11048629 2000
Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group. 54 61
10517251 1999
Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect. 61 54
9482647 1998
Morbidity and cost burden of prenatal myelomeningocele repair. 61
31345076 2021
Ventriculo-subgaleal shunts-broadening the horizons: an institutional experience. 61
33188445 2021
Maternal serum alpha-fetoprotein level and the relationship to ventriculomegaly in fetal neural tube defect: A retrospective cohort study. 61
33684673 2021
Maternal and fetal anaesthesia for fetal surgery. 61
33682103 2021
South African adolescents living with spina bifida: contributors and hindrances to well-being. 61
31368378 2021
Cognitive and motor function in adults with spina bifida myelomeningocele: a pilot study. 61
33185713 2021
Diagnostic Test Characteristics of Ultrasound Based Hydronephrosis in Identifying Low Kidney Function in Young Patients with Spina Bifida: A Retrospective Cohort Study. 61
33207136 2021
Rotation flap closure of a giant dorsolumbar myelomeningocele: technical note. 61
33454814 2021
Daily Physical Activity in Children and Adolescents with Low Lumbar and Sacral Level Myelomeningocele. 61
32748658 2021
[Prenatal path of care following the diagnosis of a malformation for which a novel prenatal therapy is available]. 61
33166705 2021
Lung destruction secondary to intrapulmonary migration of a ventriculoperitoneal shunt catheter: report of an unusual case and literature review. 61
32514761 2021
Repeat endoscopic third ventriculostomy success rate according to ventriculostoma closure patterns in children. 61
33128603 2021
Virtual navigation for the improvement of parents counseling and the planning of fetal endoscopic myelomeningocele repair. 61
33146768 2021
Prevalence of Sleep Disordered Breathing in Children With Myelomeningocele. 61
33370814 2021
Myelomeningocele genotype-phenotype correlation findings in cilia, HH, PCP, and WNT signaling pathways. 61
33470056 2021
Incidence of Urinary Tract Infections in Newborns with Spina Bifida: Is Antibiotic Prophylaxis Necessary? 61
33683941 2021
Patient-Reported Outcomes of Bladder and Bowel Control in Children with Spina Bifida. 61
33802114 2021
Systematic Classification of Spina Bifida. 61
33576426 2021
Projected impact of mandatory food fortification with folic acid on neurosurgical capacity needed for treating spina bifida in Ethiopia. 61
33319513 2021
Prenatal Neural Tube Anomalies: A Decade of Intrauterine Stem Cell Transplantation Using Advanced Tissue Engineering Methods. 61
33742349 2021
Neuropsychological profiles in children and young adults with spina bifida. 61
33709156 2021
Congenital Heart Disease and Myelomeningocele in the Newborn: Prevalence and Mortality. 61
33688980 2021
Conversion of vesicostomy into continent catheterizable reservoirs in myelomeningocele. 61
33284557 2021
Fetal surgery. 61
33720314 2021
Continuous local bupivacaine wound infusion reduces oral opioid use for acute postoperative pain control following myelomeningocele repair. 61
33485023 2021
Chyloperitoneum following open myelomeningocele repair: dealing with an extremely rare finding. 61
32656743 2021
Prevalence of high-risk bladder categorization with prenatal and postnatal myelomeningocele repair types. 61
33604950 2021
Paediatric cystolitholapaxy using mini PCNL-kit through the Mitrofanoff stoma. 61
33505678 2021
Retrospective analysis of early- and late-operated meningomyelocele patients. 61
32778939 2021
Enema-Induced spastic left colon syndrome: An unintended consequence of chronic enema use. 61
33199058 2021
Detrusor Pressures Change with Repeat Filling Cystometry in Myelodysplastic Children with Neurogenic Lower Urinary Tract Dysfunction. 61
32897763 2021
Syndromic clubfoot beyond arthrogryposis and myelomeningocele: orthopedic treatment with Ponseti method. 61
33642245 2021
Functional Outcomes of Talectomy in Pediatric Feet. 61
33559504 2021
Perspectives on urological care in spina bifida patients. 61
33614369 2021
Magnesium sulfate titration reduces maternal complications following fetoscopic closure of spina bifida. 61
33591585 2021
Variability in Kidney Function Estimates in Emerging Adults With Spina Bifida: Implications for Transitioning From Pediatric to Adult Care. 61
33242556 2021
Hereditary Myelopathies. 61
33522742 2021
Factors predicting the success of intradetrusor onabotulinum toxin-A treatment in children with neurogenic bladders due to myelomeningocele: The outcomes of a large cohort. 61
33712371 2021
Burden and consequence of birth defects in Nepal-evidence from prospective cohort study. 61
33588792 2021
Urodynamic effectiveness of a beta-3 adrenoreceptor agonist (vibegron) for a pediatric patient with anticholinergic-resistant neurogenic detrusor overactivity: a case report. 61
33602290 2021
Surgical pathway proposal for severe paralytic scoliosis in adolescents with myelomeningocele. 61
33585957 2021
Prenatal Repair and Physical Functioning Among Children With Myelomeningocele: A Secondary Analysis of a Randomized Clinical Trial. 61
33555337 2021
Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration. 61
33574475 2021

Variations for Myelomeningocele

Expression for Myelomeningocele

Search GEO for disease gene expression data for Myelomeningocele.

Pathways for Myelomeningocele

Pathways related to Myelomeningocele according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
5 10.73 MTRR MTR
Show member pathways
10.67 SLC19A1 FOLR1
Show member pathways

GO Terms for Myelomeningocele

Cellular components related to Myelomeningocele according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anchored component of external side of plasma membrane GO:0031362 8.8 FOLR3 FOLR2 FOLR1

Biological processes related to Myelomeningocele according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.08 VANGL2 VANGL1 TBXT SCRIB PAX3 DACT1
2 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.76 VANGL2 VANGL1 PRICKLE1 CELSR1
3 neural tube closure GO:0001843 9.7 VANGL2 TBXT SCRIB PRICKLE1 MTHFR MTHFD1
4 cellular amino acid biosynthetic process GO:0008652 9.69 MTRR MTR MTHFD1
5 response to axon injury GO:0048678 9.67 SOD1 MTR FOLR1
6 cobalamin metabolic process GO:0009235 9.61 MTRR MTR
7 fusion of sperm to egg plasma membrane involved in single fertilization GO:0007342 9.61 FOLR3 FOLR2 FOLR1
8 post-anal tail morphogenesis GO:0036342 9.6 TBXT SCRIB
9 axon regeneration GO:0031103 9.59 MTR FOLR1
10 establishment of planar polarity GO:0001736 9.58 VANGL2 CELSR1
11 auditory receptor cell stereocilium organization GO:0060088 9.58 SOD1 SCRIB
12 sperm-egg recognition GO:0035036 9.58 FOLR3 FOLR2 FOLR1
13 apical protein localization GO:0045176 9.57 VANGL2 CELSR1
14 tetrahydrofolate interconversion GO:0035999 9.56 MTHFR MTHFD1
15 methionine biosynthetic process GO:0009086 9.56 MTRR MTR MTHFR MTHFD1
16 homocysteine metabolic process GO:0050667 9.55 MTRR MTHFR
17 methionine metabolic process GO:0006555 9.54 MTRR MTHFR MTHFD1
18 sulfur amino acid metabolic process GO:0000096 9.52 MTRR MTR
19 folate import across plasma membrane GO:1904447 9.5 SLC19A1 FOLR2 FOLR1
20 cellular response to folic acid GO:0071231 9.48 FOLR2 FOLR1
21 folic acid transport GO:0015884 9.35 SLC25A32 SLC19A1 FOLR3 FOLR2 FOLR1
22 folic acid metabolic process GO:0046655 9.17 SLC25A32 SLC19A1 MTRR MTHFR MTHFD1 FOLR2

Molecular functions related to Myelomeningocele according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 folic acid transmembrane transporter activity GO:0008517 9.26 SLC25A32 SLC19A1
2 methotrexate binding GO:0051870 9.16 FOLR2 FOLR1
3 folic acid receptor activity GO:0061714 8.96 FOLR2 FOLR1
4 folic acid binding GO:0005542 8.92 SLC19A1 FOLR3 FOLR2 FOLR1

Sources for Myelomeningocele

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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