MCID: MYL020
MIFTS: 53

Myelomeningocele

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Myelomeningocele

Summaries for Myelomeningocele

NIH Rare Diseases : 53 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 strabismus. An important gene associated with Myelomeningocele is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Signaling by Wnt and Wnt / Hedgehog / Notch. 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 embryo

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 major birth defect of a person’s spine. With good quality medical care people with spina bifida can reach their full potential. If you have spina bifida, or know someone who does, it’s important to get the facts so that you can make the best possible health care choices.

Wikipedia : 76 Spina bifida is a birth defect where there is incomplete closing of the backbone and membranes around... more...

Related Diseases for Myelomeningocele

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

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 32.4 MTHFD1 MTHFR
2 strabismus 29.8 PRICKLE1 VANGL1 VANGL2
3 anencephaly 25.8 CELSR1 DACT1 FOLR1 MTHFD1 MTHFR PRICKLE1
4 neural tube defects 25.7 CBS CELSR1 DACT1 FOLR1 MTHFD1 MTHFR
5 renal agenesis meningomyelocele mullerian defect 11.9
6 chiari malformation type ii 11.4
7 meningocele 11.3
8 chiari malformation 11.2
9 schwartz cohen-addad lambert syndrome 11.0
10 otopalatodigital syndrome, type ii 10.8
11 heterotaxy, visceral, 1, x-linked 10.8
12 chromosome 15q24 deletion syndrome 10.8
13 congenital laryngeal palsy 10.8
14 hydrocephalus 10.3
15 glycine n-methyltransferase deficiency 10.3 CBS MTHFR
16 methotrexate toxicity or dose selection 10.2 MTHFR SLC19A1
17 lens subluxation 10.2 CBS MTHFR
18 neurogenic bladder 10.2
19 cervicitis 10.2
20 pediatric osteosarcoma 10.2 MTHFR SLC19A1
21 scoliosis 10.1
22 placental abruption 10.0 MTHFD1 MTHFR
23 aging 10.0
24 cerebritis 10.0
25 methylmalonic aciduria and homocystinuria, cblc type 10.0 CBS MTHFD1
26 neurogenic bowel 9.9
27 tethered cord syndrome 9.9
28 diastematomyelia 9.9
29 lipomyelomeningocele 9.9
30 cerebral palsy 9.9
31 clubfoot 9.9
32 diaphragmatic hernia, congenital 9.8
33 spinal cord injury 9.8
34 tethered spinal cord syndrome 9.8
35 epilepsy 9.8
36 constipation 9.8
37 syringomyelia 9.8
38 sleep disorder 9.8
39 encephalocele 9.8
40 syringohydromyelia 9.8
41 craniorachischisis 9.8 CELSR1 DACT1 SCRIB VANGL2
42 acute lymphoblastic leukemia, childhood 9.7 MTHFD1 MTHFR SLC19A1
43 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.7
44 digeorge syndrome 9.7
45 focal dermal hypoplasia 9.7
46 choroiditis 9.7
47 urethritis 9.7
48 teratoma 9.7
49 waardenburg's syndrome 9.7
50 type i 9.7

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 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.29 CELSR1 DACT1 FOLR1 MTHFD1 MTHFR PAX3
2 embryo MP:0005380 10.26 SCRIB SLC19A1 TBXT VANGL1 VANGL2 CELSR1
3 cardiovascular system MP:0005385 10.21 DACT1 FOLR1 MTHFD1 PAX3 PRICKLE1 SCRIB
4 mortality/aging MP:0010768 10.21 PRICKLE1 SCRIB SLC19A1 TBXT VANGL1 VANGL2
5 limbs/digits/tail MP:0005371 10.16 CELSR1 DACT1 MTHFD1 MTHFR PAX3 PRICKLE1
6 digestive/alimentary MP:0005381 10.14 DACT1 FOLR1 PAX3 PRICKLE1 SCRIB SLC19A1
7 nervous system MP:0003631 10.14 CELSR1 DACT1 FOLR1 MTHFD1 MTHFR PAX3
8 craniofacial MP:0005382 10.09 CELSR1 FOLR1 PAX3 PRICKLE1 SCRIB TBXT
9 hearing/vestibular/ear MP:0005377 10.04 FOLR1 PAX3 PRICKLE1 SCRIB VANGL1 VANGL2
10 integument MP:0010771 9.95 CELSR1 MTHFR PAX3 PRICKLE1 SLC19A1 TBXT
11 renal/urinary system MP:0005367 9.92 DACT1 FOLR1 PAX3 PRICKLE1 SCRIB SLC19A1
12 no phenotypic analysis MP:0003012 9.91 VANGL2 DACT1 MTHFR PAX3 PRICKLE1 SCRIB
13 reproductive system MP:0005389 9.86 CELSR1 DACT1 MTHFR SCRIB SLC19A1 TBXT
14 respiratory system MP:0005388 9.63 VANGL1 VANGL2 CELSR1 PAX3 PRICKLE1 SCRIB
15 skeleton MP:0005390 9.56 CELSR1 DACT1 MTHFR PAX3 PRICKLE1 TBXT
16 vision/eye MP:0005391 9.17 CELSR1 FOLR1 MTHFR PAX3 PRICKLE1 SCRIB

Drugs & Therapeutics for Myelomeningocele

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved 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,Phase 2
7 Neuromuscular Agents Phase 4
8 Neurotransmitter Agents Phase 4,Phase 2
9 onabotulinumtoxinA Phase 4
10 Peripheral Nervous System Agents Phase 4
11
Darifenacin Approved, Investigational Phase 2 133099-04-4 444031
12 Cholinergic Antagonists Phase 2
13 Muscarinic Antagonists Phase 2
14
Methenamine Approved, Vet_approved Phase 1 100-97-0 4101
15 Methenamine hippurate Phase 1
16 Acidophilus Nutraceutical Phase 1
17
Menthol Approved Not Applicable 2216-51-5 16666
18
Nitrous oxide Approved, Vet_approved 10024-97-2 948
19 Cola Nutraceutical Not Applicable

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Effect of Botulinum Toxin in Neurogenic Bladders in Children With Myelomeningocele Unknown status NCT00175123 Phase 4 Botulinum A toxin
2 2 Week Open-label Pharmacodynamic and Pharmacokinetic Study of Multiple Doses of a Darifenacin Liquid Oral Suspension in Children (2 - 15 Yrs) With Neurogenic Detrusor Overactivity Terminated NCT00712322 Phase 2 Darifenacin;Darifenacin;Darifenacin;Darifenacin
3 Bacteriuria Eradication Through Probiotics Unknown status NCT00717600 Phase 1
4 Fetoscopic Meningomyelocele Repair Study Recruiting NCT02230072 Phase 1
5 Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407 Not Applicable
6 Self-esteem and Neuro-urological Follow-up in Patients With Spina Bifida or Spinal Cord Injury Unknown status NCT01606618
7 Fetal Myelomeningocele Completed NCT03073382
8 Management of Myelomeningocele Study (MOMS) Completed NCT00060606 Not Applicable
9 Can Dynamic Ultrasonography Replace Urodynamics in Follow-up of Patients With Myelomeningocele Completed NCT03550898 Not Applicable
10 Evaluation of Hysterotomy Site After Open Fetal Surgery Completed NCT02493062 Not Applicable
11 Brain Function and White Matter Changes in Congenital, Acute and Chronic Spinal Cord Lesions Completed NCT01208584
12 Reliability of the Melbourne Assessment Completed NCT02595411
13 Feasibility of the Portable YouGrabber System Completed NCT02368223 Not Applicable
14 Safety of a Powder-free Latex Allergy Protocol in the Operating Theatre: A Prospective, Observational Cohort Study Completed NCT02575053
15 Prenatal Surgical Repair of Fetal Myelomeningocele Recruiting NCT01983345 Not Applicable
16 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207 Not Applicable
17 Open Myelomeningocele Repair With High Maternal BMI Recruiting NCT03044821 Not Applicable
18 Prenatal Endoscopic Repair of Fetal Spina Bifida Recruiting NCT02390895 Not Applicable
19 Open Spina Bifida Fetoscopic Repair Project Recruiting NCT03562286 Not Applicable
20 Fetoscopic Repair of Isolated Fetal Spina Bifida Recruiting NCT03090633 Not Applicable
21 Prospective Cohort of Transitional Urology Patients Recruiting NCT03061084
22 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637 Not Applicable
23 Retrograde Colonic Irrigation to Manage Spina Bifida Functional Digestive Sequelae: a Multicenter, Prospective, Randomized Controlled Trial Recruiting NCT02361450 Not Applicable
24 Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer Active, not recruiting NCT01751503 Not Applicable
25 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Active, not recruiting NCT03544970
26 Cuff Pressure in Infants Not yet recruiting NCT03088761
27 Incontinence and Quality of Life in Children With Spina Bifida Not yet recruiting NCT03410667 Not Applicable
28 Telemedicine in Spina Bifida Transition: A Pilot Study Not yet recruiting NCT03466996 Not Applicable
29 Fetal Myelomeningocele Repair With Maternal BMI Between 35.0 and 40.0 Terminated NCT02509377 Not Applicable

Search NIH Clinical Center for Myelomeningocele

Cochrane evidence based reviews: meningomyelocele

Genetic Tests for Myelomeningocele

Genetic tests related to Myelomeningocele:

# Genetic test Affiliating Genes
1 Myelomeningocele 29

Anatomical Context for Myelomeningocele

MalaCards organs/tissues related to Myelomeningocele:

41
Spinal Cord, Brain, Skin, Bone, Colon, Testes, Heart

Publications for Myelomeningocele

Articles related to Myelomeningocele:

(show top 50) (show all 721)
# Title Authors Year
1
Analysis of Denver Neurodevelopmental Screening Test Results of Myelomeningocele, Hydrocephalus, and Microcephaly Patients. ( 29899768 )
2018
2
Strategies and dental care in the treatment of patients with myelomeningocele. ( 29512828 )
2018
3
Early Administration of Magnesium Sulfate during Open Fetal Myelomeningocele Repair Reduces the Dose of Inhalational Anesthesia. ( 29672287 )
2018
4
Myelomeningocele with Unilateral Right Renal Agenesis: A Case Report. ( 29321944 )
2018
5
Comparison of Dorsal Intercostal Artery Perforator Propeller Flaps and Bilateral Rotation Flaps in Reconstruction of Myelomeningocele Defects. ( 29694666 )
2018
6
Prenatal superior to postnatal myelomeningocele surgery. ( 29936963 )
2018
7
Surgical Management of Myelomeningocele-Related Spinal Deformities. ( 29355795 )
2018
8
Fetal modified left myocardial performance index monitoring during open surgery for myelomeningocele repair. ( 29943857 )
2018
9
Complications, Results, and Risk Factors of Spinal Fusion in Patients With Myelomeningocele. ( 29886920 )
2018
10
Intellectual efficiency in children and adolescents with spina bifida myelomeningocele and shunted hydrocephalus. ( 29451990 )
2018
11
Latex sensitization in patients with myelomeningocele: contribution of microarray technique. ( 29479928 )
2018
12
The Management of Myelomeningocele Study: full cohort 30-month pediatric outcomes. ( 29246577 )
2018
13
Transpsoas cystolitholapaxy in a pediatric patient with myelomeningocele, augmented neobladder, and Mitrofanoff appendicovesicostomy. ( 29904501 )
2018
14
Energy Efficiency in Children With Myelomeningocele During Acute Use of Assistive Devices: A Pilot Study. ( 29313712 )
2018
15
Surgical treatment of patients with myelomeningocele-related spine deformities: study of 26 cases. ( 29372371 )
2018
16
The Use of External Ventricular Drainage to Reduce the Frequency of Wound Complications in Myelomeningocele Closure. ( 29316543 )
2018
17
Fetal blood gas values during fetoscopic myelomeningocele repair performed under carbon dioxide insufflation. ( 29750436 )
2018
18
Body composition and energy expenditure in a population of children and adolescents with myelomeningocele. ( 29333813 )
2018
19
Cerebellar herniation demonstrated by the occipitum-dens line: Ultrasonography assessment of normal fetuses, fetuses with myelomeningocele, and fetuses that underwent antenatal myelomeningocele surgery. ( 29427561 )
2018
20
Predictors of mortality in children with myelomeningocele and symptomatic Chiari type II malformation. ( 29570035 )
2018
21
Coincident myelomeningocele and gastroschisis: report of 2 cases. ( 29521606 )
2018
22
Myelomeningocele closure by unilateral lumbar artery perforator flap: Experience with thirty-eight patients. ( 29953654 )
2018
23
Homologous cryopreserved amniotic membrane in the repair of myelomeningocele: preliminary experience. ( 29858946 )
2018
24
Experience in shunt management on revision free survival in infants with myelomeningocele. ( 29582171 )
2018
25
The Use of a Wheelchair Propulsion Field Test to Determine Peak Heart Rate in Children and Adolescents With Myelomeningocele. ( 29485935 )
2018
26
Using poly(l-lactic acid) and poly(E9-caprolactone) blends to fabricate self-expanding, watertight and biodegradable surgical patches for potential fetoscopic myelomeningocele repair. ( 29770571 )
2018
27
Perinatal outcomes after open fetal surgery for myelomeningocele repair: a retrospective cohort study. ( 29878531 )
2018
28
Duplex Ultrasonography-Assisted Freestyle Pedicled Perforator Flaps for the Repair of Myelomeningocele Defects. ( 29319575 )
2018
29
Adipofascial Flaps With Acellular Dermal Matrix Compared With Myocutaneous Flap Reconstruction in Lumbar Myelomeningocele Defects. ( 29750727 )
2018
30
Advanced skeletal maturity in children and adolescents with myelomeningocele. ( 29125519 )
2017
31
Ultrasound based three-dimensional medical model printing for multispecialty team surgical rehearsal prior to fetoscopic myelomeningocele repair. ( 28850758 )
2017
32
Amniotic Fluid Concentrations of Glial Fibrillary Acidic Protein Do Not Correlate with Prenatal Metrics in Fetuses with Myelomeningocele. ( 28768252 )
2017
33
Complete Reversibility of the Chiari TYPE II Malformation Following Post Natal Repair of Myelomeningocele. ( 28867320 )
2017
34
Functional Independence of Children With Myelomeningocele: Is It Associated With the Informal Caregivers' Burden? ( 28888508 )
2017
35
Evaluation and Lifetime Management of the Urinary Tract in Patients with Myelomeningocele. ( 28716320 )
2017
36
Fetal surgery for myelomeningocele: current clinical practice and translational research. ( 27830929 )
2017
37
Committee Opinion No. 720: Maternal-Fetal Surgery for Myelomeningocele. ( 28832491 )
2017
38
Early postnatal bladder function in fetoscopic myelomeningocele repair patients. ( 29125525 )
2017
39
Effect of Orthotic Gait Training with Isocentric Reciprocating Gait Orthosis on Walking in Children with Myelomeningocele. ( 29339891 )
2017
40
A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia. ( 29302380 )
2017
41
Spinal column shortening for tethered cord syndrome associated with myelomeningocele, lumbosacral lipoma, and lipomyelomeningocele in children and young adults. ( 28362188 )
2017
42
Lipomyelomeningocele for the urologist: Should we view it the same as myelomeningocele? ( 28583853 )
2017
43
The relationship between motor function, cognition, independence and quality of life in myelomeningocele patients. ( 28813080 )
2017
44
Prenatal folic acid use associated with decreased risk of myelomeningocele: A case-control study offers further support for folic acid fortification in Bangladesh. ( 29190654 )
2017
45
Committee Opinion No. 720 Summary: Maternal-Fetal Surgery for Myelomeningocele. ( 28832482 )
2017
46
MANAGEMENT OF MYELOMENINGOCELE IN THE PROVINCE OF KWAZULU-NATAL, SOUTH AFRICA. ( 28876688 )
2017
47
Fetal Surgery for Myelomeningocele: A Systematic Review and Meta-Analysis of Outcomes in Fetoscopic versus Open Repair. ( 28910784 )
2017
48
Tibial derotational osteotomies in two neuromuscular populations: comparing cerebral palsy with myelomeningocele. ( 28904628 )
2017
49
DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy. ( 29675073 )
2017
50
Ultrasound functional evaluation of fetuses with myelomeningocele: study of the interpretation of results. ( 27997256 )
2017

Variations for Myelomeningocele

Expression for Myelomeningocele

Search GEO for disease gene expression data for Myelomeningocele.

Pathways for Myelomeningocele

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 8.96 FOLR1 FOLR3
2 basolateral plasma membrane GO:0016323 8.92 FOLR1 SCRIB SLC19A1 VANGL2

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.98 CELSR1 DACT1 PAX3 SCRIB TBXT VANGL1
2 anterior/posterior pattern specification GO:0009952 9.74 CELSR1 TBXT VANGL2
3 wound healing GO:0042060 9.72 CELSR1 SCRIB VANGL2
4 hair follicle development GO:0001942 9.62 CELSR1 VANGL2
5 regulation of canonical Wnt signaling pathway GO:0060828 9.61 DACT1 FOLR1
6 one-carbon metabolic process GO:0006730 9.61 MTHFD1 MTHFR
7 regulation of Wnt signaling pathway GO:0030111 9.6 DACT1 VANGL2
8 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.59 SCRIB VANGL2
9 post-anal tail morphogenesis GO:0036342 9.58 TBXT VANGL2
10 establishment of planar polarity GO:0001736 9.58 CELSR1 VANGL2
11 planar cell polarity pathway involved in neural tube closure GO:0090179 9.56 CELSR1 VANGL2
12 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.56 CELSR1 PRICKLE1 VANGL1 VANGL2
13 tetrahydrofolate interconversion GO:0035999 9.54 MTHFD1 MTHFR
14 apical protein localization GO:0045176 9.52 CELSR1 VANGL2
15 homocysteine metabolic process GO:0050667 9.51 CBS MTHFR
16 methionine metabolic process GO:0006555 9.49 MTHFD1 MTHFR
17 establishment of body hair planar orientation GO:0048105 9.48 CELSR1 VANGL2
18 transsulfuration GO:0019346 9.46 CBS MTHFD1
19 lateral sprouting involved in lung morphogenesis GO:0060490 9.4 CELSR1 VANGL2
20 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.37 CELSR1 VANGL2
21 folic acid transport GO:0015884 9.33 FOLR1 FOLR3 SLC19A1
22 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.32 CELSR1 VANGL2
23 folic acid metabolic process GO:0046655 9.26 FOLR1 MTHFD1 MTHFR SLC19A1
24 neural tube closure GO:0001843 9.1 CELSR1 MTHFD1 PRICKLE1 SCRIB TBXT VANGL2

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 9.16 FOLR1 SLC19A1
2 modified amino acid binding GO:0072341 8.96 CBS MTHFR
3 folic acid binding GO:0005542 8.8 FOLR1 FOLR3 SLC19A1

Sources for Myelomeningocele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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