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MCID: MYL020
MIFTS: 51

Myelomeningocele

Categories: Fetal 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 52 58 54 3 15
Meningomyelocele 52 43 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
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 43 D008591
SNOMED-CT 67 414667000 82058009
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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NIH Rare Diseases : 52 Myelomeningocele is the most severe form of spina bifida . It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus ). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a person's head grows too big, and they may have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect .

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 Oxybutynin and Darifenacin 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 403)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 32.2 MTRR MTR MTHFR MTHFD1
2 tethered spinal cord syndrome 30.8 VANGL1 MTHFD1
3 placental abruption 30.4 SLC19A1 MTRR MTHFR MTHFD1
4 strabismus 30.4 VANGL2 VANGL1 PRICKLE1 CELSR1
5 spina bifida occulta 30.4 VANGL2 VANGL1 MTHFR MTHFD1
6 ocular motility disease 30.2 VANGL2 VANGL1 CELSR1
7 omphalocele 30.1 SLC19A1 MTHFR MTHFD1
8 vitamin b12 deficiency 30.1 MTRR MTR MTHFR
9 homocysteinemia 29.8 SLC19A1 MTRR MTR MTHFR
10 cleft lip 29.6 SLC19A1 MTRR MTR MTHFR
11 down syndrome 29.3 SOD1 SLC19A1 MTRR MTR MTHFR
12 neural tube defects 28.0 VANGL2 VANGL1 TBXT SLC25A32 SLC19A1 SCRIB
13 anencephaly 28.0 VANGL2 VANGL1 TBXT SLC25A32 SCRIB PRICKLE1
14 chiari malformation type ii 11.8
15 chiari malformation 11.7
16 meningocele 11.7
17 schwartz cohen-addad lambert syndrome 11.6
18 ankyloblepharon filiforme imperforate anus 11.3
19 phaver syndrome 11.1
20 otopalatodigital syndrome, type ii 11.1
21 heterotaxy, visceral, 1, x-linked 11.1
22 chromosome 15q24 deletion syndrome 11.1
23 congenital laryngeal palsy 11.1
24 orofaciodigital syndrome 12 11.1
25 hydrocephalus 11.0
26 scoliosis 10.7
27 neurogenic bladder 10.7
28 isolated anencephaly 10.5 VANGL2 MTHFR
29 isolated exencephaly 10.5 VANGL2 MTHFR
30 hydrocephalus, congenital, 1 10.5
31 syringomyelia, noncommunicating isolated 10.5
32 vesicoureteral reflux 1 10.5
33 syringomyelia 10.5
34 methylmalonic aciduria and homocystinuria type cblg 10.4 MTRR MTR
35 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.4 MTR MTHFR
36 nondisjunction 10.4 MTRR MTHFR
37 methylmalonic aciduria and homocystinuria type cble 10.4 MTRR MTR
38 spinal cord injury 10.4
39 paraplegia 10.4
40 spasticity 10.4
41 hydronephrosis 10.4
42 clubfoot 10.4
43 brachydactyly, type b1 10.4 VANGL2 VANGL1 PRICKLE1
44 constipation 10.4
45 acute cystitis 10.4
46 spina bifida aperta 10.3
47 choline deficiency disease 10.3 MTR MTHFR MTHFD1
48 homocystinuria 10.3 MTRR MTR MTHFR
49 vitamin metabolic disorder 10.3 MTRR MTR MTHFR
50 methylmalonic acidemia 10.3 MTRR MTR MTHFR

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:

45 (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 integument MP:0010771 10.16 CELSR1 FOLR1 MTHFR NGF PAX3 PRICKLE1
9 craniofacial MP:0005382 10.14 CELSR1 FOLR1 PAX3 PRICKLE1 SCRIB SLC25A32
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 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
2
Darifenacin Approved, Investigational Phase 2 133099-04-4 444031
3 Neurotransmitter Agents Phase 2
4 Cholinergic Agents Phase 2
5 Muscarinic Antagonists Phase 2
6 Cholinergic Antagonists Phase 2
7
Methenamine Approved, Vet_approved Phase 1 100-97-0 4101
8
Mycophenolic acid Approved Phase 1 24280-93-1 446541
9 Acidophilus Phase 1
10 Methenamine mandelate Phase 1
11 Methenamine hippurate Phase 1
12 Antitubercular Agents Phase 1
13 Anti-Infective Agents Phase 1
14 Anti-Bacterial Agents Phase 1
15 Antibiotics, Antitubercular Phase 1
16
Nitrous oxide Approved, Vet_approved 10024-97-2 948
17
Acetylcholine Approved, Investigational 51-84-3 187
18
tannic acid Approved 1401-55-4
19
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
20
Imidacloprid Vet_approved 105827-78-9 86418
21 abobotulinumtoxinA
22 Botulinum Toxins
23 Botulinum Toxins, Type A
24 Cola
25 Anesthetics
26 Pharmaceutical Solutions
27 Calamus
28 glucocorticoids

Interventional clinical trials:

(show top 50) (show all 51)
# 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 A 14-day, Open-label, Multicenter, Dose-escalating, Sequential Cohort Study to Evaluate Pharmacodynamics (Urodynamics) and Pharmacokinetics, Clinical Efficacy, Tolerability and Safety, Following Multiple Doses (mg/kg/Day) of Darifenacin Liquid Oral Suspension Given b.i.d. (Twice Daily) in Children, Ages 2 - 15 Years, With Neurogenic Detrusor Overactivity Terminated NCT00712322 Phase 2 Darifenacin;Darifenacin;Darifenacin;Darifenacin
3 Bacteriuria Eradication Through Probiotics Unknown status NCT00717600 Phase 1
4 Pilot Study of Mycophenolate Mofetil in Congenital Uropathies Completed NCT00193635 Phase 1 mycophenolate mofetil
5 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
6 Minimally Invasive Fetal Neural Tube Defect Repair Study Active, not recruiting NCT02230072 Phase 1
7 Changes in the Cuff Pressure in Infants in the Absence of Nitrous Oxide Unknown status NCT03088761
8 Open Spina Bifida Fetoscopic Repair Project Unknown status NCT03562286
9 NSC Assistive Technology Research: Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407
10 In Vivo Comparison of Air Charged Catheters With Water Filled Catheters for Intravesical and Intrarectal Pressures Recording During Urodynamic Study Unknown status NCT02030340
11 Effectiveness of Prophylaxis of Urinary Tract Infections in Children With a Probiotic Containing Lactobacillus Rhamnosus PL1 and Lactobacillus Plantarum PM1, a Randomised Clinical Trial Unknown status NCT03462160
12 Daily Physical Activity in Children and Adolescents With Low Lumbar and Sacral Level Myelomeningocele Completed NCT04186338
13 Impact of Prenatal Correction of Spina Bifida Using Fetoscopy and the SAFER Technique on Long-term Neurodevelopment. Completed NCT04356703
14 Can Dynamic Ultrasonography Replace Urodynamics in the Follow-up of Patients With Myelomeningocele: A Prospective Concurrent Study Completed NCT03550898
15 Efficacy Of Pulsed Electromagnetic Field Therapy On Neurogenic Bladder in Children With Myelomeningocele Completed NCT04187027
16 Myelomeningocele Repair Randomized Trial Completed NCT00060606
17 Risk Factors Associated With Spontaneous Preterm Delivery Status Post Open Fetal Myelomeningocele Repair Completed NCT03073382
18 Brain Function and White Matter Changes in Congenital, Acute and Chronic Spinal Cord Lesions Completed NCT01208584
19 Reliability of the Melbourne Assessment Completed NCT02595411
20 Feasibility of a Home-based Interactive System for Upper Limb Therapy (YouGrabber) Completed NCT02368223
21 Retrospective Study With Botulinic Toxin in Neurogenic Detrusor Overactivity Completed NCT03042052 detrusor infection of Botulinum toxin
22 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
23 Retrograde Colonic Irrigation to Manage Spina Bifida Functional Digestive Sequelae: a Multicenter, Prospective, Randomized Controlled Trial Completed NCT02361450
24 A Three-year Behavioral Treatment of Obese Children: the Effect of Age on Change in BMI SDS and Dropout Rate Completed NCT01029964
25 New Protocol for Identification of Serious Bacterial Infection in Febrile Newborn Completed NCT03183531
26 In Utero Endoscopic Correction of Myelomeningocele: Laparotomy Versus Percutaneous - A Pilot Study Recruiting NCT03856034
27 Extended Criteria For Fetal Myelomeningocele Repair: A Pilot Study Recruiting NCT02664207
28 Sleep-disordered Breathing in Infants With Myelomeningocele Recruiting NCT04251806
29 Early Feasibility Study of Fetoscopic Myelomeningocele Repair Using a Cryopreserved Human Umbilical Cord Allograft (NEOX Cord 1K®) as a Meningeal Patch Recruiting NCT04243889
30 Prenatal Endoscopic Repair of Fetal Spina Bifida Recruiting NCT02390895
31 Long Term Assessment and Outcome of Adult Patients With Congenital Genitourinary Abnormalities. Recruiting NCT03061084
32 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637
33 Epigenetic Alterations in Stress Regulation Genes Among Newborns After Fetal Surgery for Myelomeningocele Repair: An Exploratory Study Recruiting NCT04027374
34 Qualitative In-depth Interviews With Women and Their Partners Concerning the Acceptability of Fetal Surgery Recruiting NCT03788122
35 Study of Fetoscopic Repair of Myelomeningocele in Fetuses With Isolated Spina Bifida Recruiting NCT03090633
36 In-Utero Endoscopic Correction of Spina Bifida: Laparotomy or Percutaneous Recruiting NCT04362592
37 Optimal Frequency Used in Transcutaneous Electrical Nerve Stimulation (TENS) for Treating Nocturnal Enuresis in Children Recruiting NCT04313192
38 Comparative Study in the Clinical Efficacy, Satisfaction and Complications While Treating Walking Spica Cast vs Synthetic Pants in the Management of Pediatric Low-energy Femoral Shaft Fracture. Randomized Clinical Trial Recruiting NCT04311866
39 Transcutaneous Electric Nerve Stimulation (TENS) for the Treatment of Nocturnal Enuresis in Children Recruiting NCT02900495
40 Prenatal Surgical Repair of Fetal Myelomeningocele Active, not recruiting NCT01983345
41 Minimally Invasive Fetoscopic Regenerative Repair of Spina Bifida - A Pilot Study Enrolling by invitation NCT03936322
42 Telemedicine in Spina Bifida Transition: A Pilot Study Enrolling by invitation NCT03466996
43 EVALUATION OF THE SENSORY-MOTOR RESPONSE IN PATIENTS WITH MYELOMENINGOCELE FOLLOWING TREATMENT WITH PHOTOBIOMODULATION Not yet recruiting NCT04035863
44 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
45 A Patient-centered Approach to Urinary Incontinence and Quality of Life in Children and Adolescents With Spina Bifida Not yet recruiting NCT03410667
46 Case Control Study to Investigate the Use of Urethral Pressure Profile Measurement in Children Not yet recruiting NCT04147793
47 Fetal Myelomeningocele Repair With Maternal BMI Between 35.0 and 40.0 Terminated NCT02509377
48 Evaluation of Hysterotomy Site After Open Fetal Surgery Terminated NCT02493062
49 Open Fetal Myelomeningocele Repair With Maternal BMI Between 35.0 And 40.0 Terminated NCT03044821
50 Prospective Randomized Controlled Trial Comparing Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer. Terminated NCT01751503

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, Bone, Testes, Colon, Kidney
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Publications for Myelomeningocele

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Articles related to Myelomeningocele:

(show top 50) (show all 4397)
# 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. 61 54
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. 61 54
9482647 1998
8
Improved Coverage of Mouse Myelomeningocele With a Mussel Inspired Reverse Thermal Gel. 61
32197182 2020
9
Retrieving the Moral in the Ethics of Maternal-Fetal Surgery. 61
32484133 2020
10
Factors Associated With Ambulation in Myelomeningocele: A Longitudinal Study From the National Spina Bifida Patient Registry. 61
32209832 2020
11
Brain abnormalities in myelomeningocele patients. 61
31664560 2020
12
How we measure and determine competence: lessons from fetal myelomeningocele repair. 61
32478981 2020
13
Myelomeningocele sac associated with worse lower-extremity neurological sequelae: evidence for prenatal neural stretch injury? 61
31613408 2020
14
Intrauterine total percutaneous fetoscopic repair of myelomeningocele: 30 months follow up data. 61
32510722 2020
15
Response to Letter to the Editor re 'Fetal repair of myelomeningocele: Current status and urologic implications'. 61
32513443 2020
16
RE: Clayton DB, Thomas JC, Brock III JW. Fetal repair of myelomeningocele: Current status and urologic implications. 61
32517969 2020
17
Lung destruction secondary to intrapulmonary migration of a ventriculoperitoneal shunt catheter: report of an unusual case and literature review. 61
32514761 2020
18
Long term continuation with repeated Botulinum toxin A injections in people with neurogenic detrusor overactivity after spinal cord injury. 61
31913344 2020
19
First experience with ATOMS system implant in neurogenic stress urinary incontinence. 61
32542976 2020
20
Learning curves of open and endoscopic fetal spina bifida closure: systematic review and meta-analysis. 61
31273862 2020
21
Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition. 61
32337341 2020
22
Fetal anesthesia: intrauterine therapies and immediate postnatal anesthesia for noncardiac surgical interventions. 61
32324666 2020
23
The value of preoperative labs in identifying "at-risk" patients for developing surgical site infections after pediatric neuromuscular spine deformity surgery. 61
31925757 2020
24
Detailed Analysis of Hydrocephalus and Hindbrain Herniation After Prenatal and Postnatal Myelomeningocele Closure: Report From a Single Institution. 61
31432079 2020
25
The incidence and effect of tethered cord release for tethered cord syndrome in patients with myelomeningocele: a population-based study. 61
32470933 2020
26
Factors Associated with Early Neonatal and First-Year Mortality in Infants with Myelomeningocele in California from 2006 to 2011. 61
32473597 2020
27
Myelomeningocele Repair Combining a Double Cryopreserved Amniotic Membrane Homograft and the Keystone Flap in a 3-Year-Old Child: A Case Report. 61
32454485 2020
28
The Keystone Island Perforator Flap in Reconstruction of Large Myelomeningocele Defects. 61
31503022 2020
29
Letter to the Editor. The fallacy of sunk cost: decision-making after intrauterine myelomeningocele repair. 61
32384270 2020
30
Botulinum Toxin Type A Therapy: Intravesical Injection or Electromotive Drug Administration. 61
32437774 2020
31
Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital. 61
32448340 2020
32
Maternal low body mass index is a risk factor for fetal ductal constriction following indomethacin use among women undergoing fetal repair of spina bifida. 61
32003478 2020
33
Symptomatic Recurrence of Cervical Spine Myelomeningocele in an Adult Patient. 61
32109641 2020
34
Enlargement of Extraspinal Cysts in Spinal Dysraphism : A Reason for Early Untethering. 61
32336061 2020
35
Tocolysis for open prenatal repair of myelomeningocele: systematic review. 61
30526147 2020
36
Keystone flap: a safe coverage option in the handling of salvage for myelomeningocele. 61
32468239 2020
37
Surgical management of Chiari malformation type II. 61
32474814 2020
38
Ruptured dermoid cyst of the conus medullaris in the myelomeningocele sac revealed at the initial repair surgery. 61
31776717 2020
39
Cerebrospinal fluid alterations following endoscopic third ventriculostomy with choroid plexus cauterization: a retrospective laboratory analysis of two tertiary care centers. 61
31781913 2020
40
Utilization of Augmentation Cystoplasty for Myelomeningocele Patients Remained Stable Over the Past Decade. 61
32360629 2020
41
Non-surgical intervention for open myelomeningocele in an infant with trisomy 18. 61
32212200 2020
42
Severe and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy. 61
32283072 2020
43
Abnormal anisotropic diffusion properties in pediatric myelomeningocele patients treated with fetal surgery: an initial DTI study. 61
31399765 2020
44
Hindbrain Herniation and Banana and Lemon Sign After Open Fetal Myelomeningocele Repair - When Do These Signs Disappear and is Shunting Predictable? 61
32330995 2020
45
Histological response and expression of collagen, metalloproteinases MMP-1 and MMP-9 and tissue inhibitors of metalloproteinases TIMP-1 and TIMP-2 in fetal membranes following open intrauterine surgery: an experimental study. 61
32295446 2020
46
Alterations in skull base anatomy in intrauterine and postnatal repaired myelomeningoceles. 61
32239293 2020
47
Fetal surgery and stem cell therapy for meningomyelocele. 61
32004173 2020
48
A new approach for spinal deformity patients with meningomyelocele: reverse Y incision. 61
32301344 2020
49
Fetal surgical intervention for myelomeningocele: lessons learned, outcomes, and future implications. 61
31840814 2020
50
Relationships among classifications of impairment and measures of ambulatory function for children with spina bifida. 61
32255380 2020
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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 MTRR causes methylmalonic aciduria and homocystinuria type cblE 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 basolateral plasma membrane GO:0016323 9.26 VANGL2 SLC19A1 SCRIB FOLR1
2 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 30)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.14 VANGL2 VANGL1 TBXT SCRIB PAX3 DACT1
2 anterior/posterior pattern specification GO:0009952 9.81 VANGL2 TBXT CELSR1
3 wound healing GO:0042060 9.79 VANGL2 SCRIB CELSR1
4 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.78 VANGL2 VANGL1 PRICKLE1 CELSR1
5 cellular amino acid biosynthetic process GO:0008652 9.74 MTRR MTR MTHFD1
6 response to axon injury GO:0048678 9.72 SOD1 MTR FOLR1
7 neural tube closure GO:0001843 9.7 VANGL2 TBXT SCRIB PRICKLE1 MTHFR MTHFD1
8 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.65 VANGL2 SCRIB
9 cobalamin metabolic process GO:0009235 9.64 MTRR MTR
10 axon regeneration GO:0031103 9.63 MTR FOLR1
11 establishment of planar polarity GO:0001736 9.63 VANGL2 CELSR1
12 post-anal tail morphogenesis GO:0036342 9.63 VANGL2 TBXT SCRIB
13 auditory receptor cell stereocilium organization GO:0060088 9.62 SOD1 SCRIB
14 apical protein localization GO:0045176 9.61 VANGL2 CELSR1
15 planar cell polarity pathway involved in neural tube closure GO:0090179 9.61 VANGL2 CELSR1
16 sperm-egg recognition GO:0035036 9.61 FOLR3 FOLR2 FOLR1
17 tetrahydrofolate interconversion GO:0035999 9.6 MTHFR MTHFD1
18 homocysteine metabolic process GO:0050667 9.58 MTRR MTHFR
19 sulfur amino acid metabolic process GO:0000096 9.58 MTRR MTR
20 fusion of sperm to egg plasma membrane involved in single fertilization GO:0007342 9.58 FOLR3 FOLR2 FOLR1
21 establishment of body hair planar orientation GO:0048105 9.56 VANGL2 CELSR1
22 methionine biosynthetic process GO:0009086 9.56 MTRR MTR MTHFR MTHFD1
23 cellular response to folic acid GO:0071231 9.54 FOLR2 FOLR1
24 methionine metabolic process GO:0006555 9.54 MTRR MTHFR MTHFD1
25 lateral sprouting involved in lung morphogenesis GO:0060490 9.52 VANGL2 CELSR1
26 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.51 VANGL2 CELSR1
27 folate import across plasma membrane GO:1904447 9.5 SLC19A1 FOLR2 FOLR1
28 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.49 VANGL2 CELSR1
29 folic acid transport GO:0015884 9.35 SLC25A32 SLC19A1 FOLR3 FOLR2 FOLR1
30 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

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