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MCID: MYL020
MIFTS: 51

Myelomeningocele

Categories: Fetal diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Myelomeningocele

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MalaCards integrated aliases for Myelomeningocele:

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

Characteristics:

Orphanet epidemiological data:

58
myelomeningocele
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
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 72 C0025312
Orphanet 58 ORPHA93969
UMLS 71 C0025312 C0086664 C0751316
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Summaries for Myelomeningocele

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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 : 74 Spina bifida is a birth defect in which there is incomplete closing of the spine and the membranes... more...

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Related Diseases for Myelomeningocele

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

(show top 50) (show all 402)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 31.6 MTRR MTR MTHFR MTHFD1
2 tethered spinal cord syndrome 31.1 VANGL1 MTHFD1
3 placental abruption 30.5 MTRR MTHFR MTHFD1
4 strabismus 30.1 VANGL2 VANGL1 PRICKLE1 CELSR1
5 spina bifida occulta 30.1 VANGL2 VANGL1 MTHFR MTHFD1
6 omphalocele 29.9 SLC19A1 MTHFR MTHFD1
7 ocular motility disease 29.9 VANGL2 VANGL1 CELSR1
8 cleft lip/palate 29.8 MTRR MTR MTHFR
9 homocysteinemia 29.5 SLC19A1 MTRR MTR MTHFR
10 cleft lip 29.4 SLC19A1 MTRR MTR MTHFR
11 down syndrome 29.3 SOD1 SLC19A1 MTRR MTR MTHFR
12 neural tube defects 28.1 VANGL2 VANGL1 TBXT SLC25A32 SLC19A1 SCRIB
13 anencephaly 27.8 VANGL2 VANGL1 TBXT SLC25A32 SCRIB PRICKLE1
14 chiari malformation type ii 11.2
15 chiari malformation 11.2
16 meningocele 11.1
17 schwartz cohen-addad lambert syndrome 11.0
18 ankyloblepharon filiforme imperforate anus 11.0
19 hydrocephalus 10.9
20 otopalatodigital syndrome, type ii 10.9
21 heterotaxy, visceral, 1, x-linked 10.9
22 chromosome 15q24 deletion syndrome 10.9
23 congenital laryngeal palsy 10.9
24 orofaciodigital syndrome 12 10.9
25 scoliosis 10.7
26 neurogenic bladder 10.6
27 urinary tract infection 10.5
28 vesicoureteral reflux 1 10.4
29 spinal cord injury 10.4
30 syringomyelia, noncommunicating isolated 10.4
31 syringomyelia 10.4
32 isolated anencephaly 10.4 VANGL2 MTHFR
33 isolated exencephaly 10.4 VANGL2 MTHFR
34 paraplegia 10.4
35 hydronephrosis 10.4
36 spasticity 10.3
37 clubfoot 10.3
38 nondisjunction 10.3 MTRR MTHFR
39 acute cystitis 10.3
40 constipation 10.3
41 sudden sensorineural hearing loss 10.3 MTR MTHFR
42 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.3 MTR MTHFR
43 spina bifida aperta 10.3
44 mild cognitive impairment 10.3 SOD1 MTHFR
45 methylmalonic aciduria and homocystinuria type cblg 10.3 MTRR MTR
46 methylmalonic aciduria and homocystinuria type cble 10.3 MTRR MTR
47 intracranial vasospasm 10.2 MTR MTHFR
48 vascular dementia 10.2 SOD1 NGF MTHFR
49 oligohydramnios 10.2
50 neurogenic bowel 10.2

Graphical network of the top 20 diseases related to Myelomeningocele:



Diseases related to Myelomeningocele
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Symptoms & Phenotypes for Myelomeningocele

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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
Sources

Drugs & Therapeutics for Myelomeningocele

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
3 abobotulinumtoxinA Phase 4
4 Botulinum Toxins Phase 4
5 Botulinum Toxins, Type A Phase 4
6 Cholinergic Agents Phase 4
7 Antibiotics, Antitubercular Phase 1, Phase 2
8 Anti-Bacterial Agents Phase 1, Phase 2
9 Analgesics Phase 1, Phase 2
10
Methenamine Approved, Vet_approved Phase 1 100-97-0 4101
11 Methenamine mandelate Phase 1
12 Acidophilus Phase 1
13 Methenamine hippurate Phase 1
14
Nitrous oxide Approved, Vet_approved 10024-97-2 948
15
Terbutaline Approved 23031-25-6 5403
16
Atosiban Approved, Investigational 90779-69-4
17
tannic acid Approved 1401-55-4
18
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
19
Imidacloprid Vet_approved 105827-78-9 86418
20 glucocorticoids
21 Neurotransmitter Agents
22 Respiratory System Agents
23 Anti-Asthmatic Agents
24 Adrenergic beta-Agonists
25 Hormone Antagonists
26 Hormones
27 Adrenergic Agents
28 Sympathomimetics
29 Tocolytic Agents
30 Bronchodilator Agents
31 Adrenergic Agonists
32 Anesthetics
33 Pharmaceutical Solutions
34 Calamus

Interventional clinical trials:

(show all 39)
# 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 Not yet 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 Changes in the Cuff Pressure in Infants in the Absence of Nitrous Oxide Unknown status NCT03088761
8 NSC Assistive Technology Research: Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407
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 Can Dynamic Ultrasonography Replace Urodynamics in the Follow-up of Patients With Myelomeningocele: A Prospective Concurrent Study Completed NCT03550898
14 Efficacy Of Pulsed Electromagnetic Field Therapy On Neurogenic Bladder in Children With Myelomeningocele Completed NCT04187027
15 Daily Physical Activity in Children and Adolescents With Low Lumbar and Sacral Level Myelomeningocele Completed NCT04186338
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 Prenatal Endoscopic Repair of Fetal Spina Bifida Recruiting NCT02390895
23 Assessment of Maternal Blood Gas Changes When Using Atosiban and Terbutaline as Tocolytic Agents, During in Utero Repair of Myelomeningocele Recruiting NCT04468568 Atosiban;Terbutaline
24 Sleep-disordered Breathing in Infants With Myelomeningocele Recruiting NCT04251806
25 Early Feasibility Study of Fetoscopic Myelomeningocele Repair Using a Cryopreserved Human Umbilical Cord Allograft (NEOX Cord 1K®) as a Meningeal Patch Recruiting NCT04243889
26 Study of Fetoscopic Repair of Myelomeningocele in Fetuses With Isolated Spina Bifida Recruiting NCT03090633
27 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637
28 In-Utero Endoscopic Correction of Spina Bifida: Laparotomy or Percutaneous Recruiting NCT04362592
29 A Patient-centered Approach to Urinary Incontinence and Quality of Life in Children and Adolescents With Spina Bifida Recruiting NCT03410667
30 Long Term Assessment and Outcome of Adult Patients With Congenital Genitourinary Abnormalities. Recruiting NCT03061084
31 Maternal-fetal Immune Responses to Fetal Surgery Recruiting NCT04484441
32 Prenatal Surgical Repair of Fetal Myelomeningocele Active, not recruiting NCT01983345
33 Minimally Invasive Fetoscopic Regenerative Repair of Spina Bifida - A Pilot Study Active, not recruiting NCT03936322
34 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
35 Efficacy of Contrast Enhanced Voiding Urosonography for Urodynamic Studies Not yet recruiting NCT04738539 Contrast Enhanced Voiding Urosonography with Urodynamic Testing
36 EVALUATION OF THE SENSORY-MOTOR RESPONSE IN PATIENTS WITH MYELOMENINGOCELE FOLLOWING TREATMENT WITH PHOTOBIOMODULATION Not yet recruiting NCT04035863
37 Fetal Myelomeningocele Repair With Maternal BMI Between 35.0 and 40.0 Terminated NCT02509377
38 Evaluation of Hysterotomy Site After Open Fetal Surgery Terminated NCT02493062
39 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

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Genetic Tests for Myelomeningocele

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Anatomical Context for Myelomeningocele

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MalaCards organs/tissues related to Myelomeningocele:

40
Spinal Cord, Brain, Skin, Kidney, Heart, Cerebellum, Bone
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Publications for Myelomeningocele

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Articles related to Myelomeningocele:

(show top 50) (show all 4513)
# Title Authors PMID Year
1
Homocysteine, folate, lipid profile and MTHFR genotype and disability in children with myelomeningocele. 54 61
16602021 2006
2
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. 54 61
17035141 2006
3
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? 54 61
16602006 2006
4
No evidence for heterozygote advantage at MTHFR in patients with lumbosacral myelomeningocele or their relatives. 61 54
14726815 2004
5
The effect of C677T mutation of methylene tetrahydrofolate reductase gene and plasma folate level on hyperhomocysteinemia in patients with meningomyelocele. 61 54
11048629 2000
6
Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group. 54 61
10517251 1999
7
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. 54 61
9482647 1998
8
Chyloperitoneum following open myelomeningocele repair: dealing with an extremely rare finding. 61
32656743 2021
9
Conversion of vesicostomy into continent catheterizable reservoirs in myelomeningocele. 61
33284557 2021
10
Lung destruction secondary to intrapulmonary migration of a ventriculoperitoneal shunt catheter: report of an unusual case and literature review. 61
32514761 2021
11
Repeat endoscopic third ventriculostomy success rate according to ventriculostoma closure patterns in children. 61
33128603 2021
12
Virtual navigation for the improvement of parents counseling and the planning of fetal endoscopic myelomeningocele repair. 61
33146768 2021
13
Endoscopic third ventriculostomy for myelomeningocele-related hydrocephalus after shunt failure: Long-term outcome in a series of 8 patients. 61
33341457 2021
14
Reduced rates of infection after myelomeningocele closure associated with standard perioperative antibiotic treatment with ampicillin and gentamicin. 61
32720078 2021
15
Prenatal Repair and Physical Functioning Among Children With Myelomeningocele: A Secondary Analysis of a Randomized Clinical Trial. 61
33555337 2021
16
Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration. 61
33574475 2021
17
Diffusion tensor imaging in children following prenatal myelomeningocele repair and its predictive value for the need and timing of subsequent CSF diversion surgery for hydrocephalus. 61
33545679 2021
18
Surgical pathway proposal for severe paralytic scoliosis in adolescents with myelomeningocele. 61
33585957 2021
19
Prevalence of high-risk bladder categorization with prenatal and postnatal myelomeningocele repair types. 61
33604950 2021
20
Burden and consequence of birth defects in Nepal-evidence from prospective cohort study. 61
33588792 2021
21
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
22
Enema-Induced spastic left colon syndrome: An unintended consequence of chronic enema use. 61
33199058 2021
23
Detrusor Pressures Change with Repeat Filling Cystometry in Myelodysplastic Children with Neurogenic Lower Urinary Tract Dysfunction. 61
32897763 2021
24
Paediatric cystolitholapaxy using mini PCNL-kit through the Mitrofanoff stoma. 61
33505678 2021
25
Retrospective analysis of early- and late-operated meningomyelocele patients. 61
32778939 2021
26
Hereditary Myelopathies. 61
33522742 2021
27
Functional Outcomes of Talectomy in Pediatric Feet. 61
33559504 2021
28
Magnesium sulfate titration reduces maternal complications following fetoscopic closure of spina bifida. 61
33591585 2021
29
Systematic Classification of Spina Bifida. 61
33576426 2021
30
Variability in Kidney Function Estimates in Emerging Adults With Spina Bifida: Implications for Transitioning From Pediatric to Adult Care. 61
33242556 2021
31
Bladder Volume Assessment in Pediatric Patients With Neurogenic Bladder: Is Ultrasound an Accurate Method? 61
33053401 2021
32
Fetoscopic Multilayer, Dural Patch Closure Technique for Intrauterine Myelomeningocele Repair: 2-Dimensional Operative Video. 61
33047136 2021
33
A Simplified Approach to Myelomeningocele Defect Repair. 61
32349084 2021
34
Comparison of dorsal intercostal perforator artery flap and primary closure in myelomeningocele repair. 61
32666153 2021
35
Occupation Based Telerehabilitation Intervention for Adolescents with Myelomeningocele: A Pilot Study. 61
32856511 2021
36
Lumbosacral myelomeningocele before and after in utero repair. 61
32598910 2021
37
Outcome in 32 cases of tethered cord in adults-is intervention justified? 61
32642975 2021
38
Comparison of two- and three-dimensional endoscopic visualization for fetal myelomeningocele repair: a pilot study using a fetoscopic surgical simulator. 61
33392653 2021
39
Fully percutaneous fetoscopic repair of myelomeningocele: 30-month follow-up data. 61
32510722 2021
40
Fetoscopic insufflation modeled in the extrauterine environment for neonatal development (EXTEND): Fetoscopic insufflation is safe for the fetus. 61
33309299 2021
41
Amniotic fluid stem cells as a novel strategy for the treatment of fetal and neonatal neurological diseases. 61
33461069 2021
42
Case report of mesenteric strangulation secondary to longstanding ventriculoperitoneal shunt catheter. 61
33388923 2021
43
Shunt timing in meningomyelocele and clinical results: analysis of 80 cases. 61
32632579 2021
44
Missed anterior sacral meningomyelocele presenting with obstructive uropathy. 61
33083233 2021
45
Cytomegalovirus DNA in non-glioblastoma multiforme brain tumors of infants. 61
33409619 2021
46
Could Lumbar Lordosis Angle Be A Predictor of Functionality in Children with Spina Bifida? A Cross-Section Study. 61
33390084 2021
47
Anesthesia-Related Factors Associated with Preterm Labor and Delivery after Open Fetal Surgery. 61
33279907 2021
48
Surgical Outcomes after Myelomeningocele Repair in Lusaka, Zambia. 61
33091647 2021
49
YouTube as a Source of Patient Information for Prenatal Repair of Myelomeningocele. 61
31430813 2021
50
Guideline No. 410: Prevention, Screening, Diagnosis, and Pregnancy Management for Fetal Neural Tube Defects. 61
33212246 2021
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Variations for Myelomeningocele

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Expression for Myelomeningocele

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Search GEO for disease gene expression data for Myelomeningocele.
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Pathways for Myelomeningocele

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Pathways related to Myelomeningocele according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism of water-soluble vitamins and cofactors 65
Show member pathways
 12.31 SLC25A32 SLC19A1 MTRR MTR MTHFR MTHFD1
2
One carbon pool by folate 36
Show member pathways
 11.71 MTRR MTR MTHFR MTHFD1
3
Folate Metabolism 1
Show member pathways
 11.61 SOD1 SLC19A1 MTRR MTR MTHFR MTHFD1
4
Antifolate resistance 36
10.85 SLC19A1 MTHFR FOLR3 FOLR2 FOLR1
5
Cobalamin (Cbl, vitamin B12) transport and metabolism 65
10.73 MTRR MTR
6
Methotrexate Pathway, Pharmacokinetics 60
Show member pathways
 10.67 SLC19A1 FOLR1
7
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG 65
Show member pathways
 9.92 MTRR MTR
Sources

GO Terms for Myelomeningocele

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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 10.09 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 9.54 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

Sources for Myelomeningocele

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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