MCID: MYL020
MIFTS: 54

Myelomeningocele

Categories: Fetal diseases, Neuronal diseases, Rare 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 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 159)
# Related Disease Score Top Affiliating Genes
1 neural tube defects 30.6 CBS CELSR1 DACT1 FOLR1 MTHFR PAX3
2 strabismus 29.9 PRICKLE1 VANGL1 VANGL2
3 anencephaly 28.8 CELSR1 DACT1 FOLR1 MTHFR PRICKLE1 SCRIB
4 renal agenesis meningomyelocele mullerian defect 12.1
5 chiari malformation type ii 11.6
6 neural tube defects, folate-sensitive 11.5
7 meningocele 11.5
8 chiari malformation 11.4
9 ankyloblepharon filiforme imperforate anus 11.1
10 schwartz cohen-addad lambert syndrome 11.1
11 otopalatodigital syndrome, type ii 11.0
12 heterotaxy, visceral, 1, x-linked 11.0
13 chromosome 15q24 deletion syndrome 11.0
14 congenital laryngeal palsy 11.0
15 orofaciodigital syndrome 12 11.0
16 hydrocephalus 10.6
17 scoliosis 10.4
18 neurogenic bladder 10.4
19 tethered cord syndrome 10.2
20 congenital hydrocephalus 10.2
21 anus, imperforate 10.1
22 cerebral palsy 10.1
23 spinal cord injury 10.1
24 neurogenic bowel 10.1
25 constipation 10.1
26 lens subluxation 10.1 CBS MTHFR
27 branch retinal artery occlusion 10.1 MTHFR PAX3
28 methotrexate toxicity or dose selection 10.1 MTHFR SLC19A1
29 grange syndrome 10.1 CBS MTHFR
30 pediatric osteosarcoma 10.0 MTHFR SLC19A1
31 diastematomyelia 10.0
32 lipomyelomeningocele 10.0
33 clubfoot 10.0
34 cystathioninuria 10.0 CBS MTHFR
35 sacrococcygeal teratoma 10.0
36 squamous cell carcinoma 10.0
37 amino acid metabolic disorder 10.0 CBS MTHFR
38 diaphragmatic hernia, congenital 10.0
39 epilepsy 10.0
40 syringomyelia 10.0
41 teratoma 10.0
42 growth hormone deficiency 10.0
43 syringohydromyelia 10.0
44 glycine n-methyltransferase deficiency 10.0 CBS MTHFR
45 upper thoracic spina bifida cystica 9.9 MTHFR TBXT VANGL1 VANGL2
46 cervicothoracic spina bifida cystica 9.9 MTHFR TBXT VANGL1 VANGL2
47 cervical spina bifida cystica 9.9 MTHFR TBXT VANGL1 VANGL2
48 lumbosacral spina bifida cystica 9.9 MTHFR TBXT VANGL1 VANGL2
49 thiamine metabolism dysfunction syndrome 2 9.9 FOLR1 SLC19A1
50 thoracolumbosacral spina bifida cystica 9.9 MTHFR TBXT VANGL1 VANGL2

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 10.25 CELSR1 DACT1 FOLR1 MTHFR PAX3 PRICKLE1
2 embryo MP:0005380 10.22 CELSR1 DACT1 FOLR1 PAX3 PRICKLE1 SCRIB
3 mortality/aging MP:0010768 10.17 CELSR1 DACT1 FOLR1 MTHFR PAX3 PRICKLE1
4 cardiovascular system MP:0005385 10.16 DACT1 FOLR1 PAX3 PRICKLE1 SCRIB TBXT
5 digestive/alimentary MP:0005381 10.14 DACT1 FOLR1 PAX3 PRICKLE1 SCRIB SLC19A1
6 limbs/digits/tail MP:0005371 10.11 CELSR1 DACT1 MTHFR PAX3 PRICKLE1 SCRIB
7 nervous system MP:0003631 10.1 CELSR1 DACT1 FOLR1 MTHFR PAX3 PRICKLE1
8 craniofacial MP:0005382 10.09 CELSR1 FOLR1 PAX3 PRICKLE1 SCRIB TBXT
9 hearing/vestibular/ear MP:0005377 10.04 CELSR1 FOLR1 PAX3 PRICKLE1 SCRIB VANGL1
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 DACT1 MTHFR PAX3 PRICKLE1 SCRIB TBXT
13 reproductive system MP:0005389 9.86 CELSR1 DACT1 MTHFR SCRIB SLC19A1 TBXT
14 respiratory system MP:0005388 9.63 CELSR1 PAX3 PRICKLE1 SCRIB VANGL1 VANGL2
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 Cholinergic Agents Phase 4,Phase 2
4 Botulinum Toxins Phase 4
5 Botulinum Toxins, Type A Phase 4
6 Neuromuscular Agents Phase 4
7 Acetylcholine Release Inhibitors Phase 4
8 Peripheral Nervous System Agents Phase 4
9 Neurotransmitter Agents Phase 4,Phase 2
10 onabotulinumtoxinA Phase 4
11 abobotulinumtoxinA Phase 4
12
Darifenacin Approved, Investigational Phase 2 133099-04-4 444031
13 Muscarinic Antagonists Phase 2
14 Cholinergic Antagonists Phase 2
15
Methenamine Approved, Vet_approved Phase 1 100-97-0 4101
16 Acidophilus Phase 1
17 Methenamine hippurate Phase 1
18
Nitrous oxide Approved, Vet_approved 10024-97-2 948
19 Cola Not Applicable

Interventional clinical trials:

(show all 31)
# 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 Patch vs. No Patch Fetoscopic Meningomyelocele Repair Study Recruiting NCT03794011 Phase 1
6 Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407 Not Applicable
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 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
16 Prenatal Surgical Repair of Fetal Myelomeningocele Recruiting NCT01983345 Not Applicable
17 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207 Not Applicable
18 Open Myelomeningocele Repair With High Maternal BMI Recruiting NCT03044821 Not Applicable
19 Prenatal Endoscopic Repair of Fetal Spina Bifida Recruiting NCT02390895 Not Applicable
20 Open Spina Bifida Fetoscopic Repair Project Recruiting NCT03562286 Not Applicable
21 Fetal Surgery Interview Study: Parental Perceptions of Fetal Surgery Recruiting NCT03788122 Not Applicable
22 Fetoscopic Repair of Isolated Fetal Spina Bifida Recruiting NCT03090633 Not Applicable
23 Prospective Cohort of Transitional Urology Patients Recruiting NCT03061084
24 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637 Not Applicable
25 Retrograde Colonic Irrigation to Manage Spina Bifida Functional Digestive Sequelae: a Multicenter, Prospective, Randomized Controlled Trial Recruiting NCT02361450 Not Applicable
26 Self-esteem and Neuro-urological Follow-up in Patients With Spina Bifida or Spinal Cord Injury Recruiting NCT01606618
27 Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer Active, not recruiting NCT01751503 Not Applicable
28 Telemedicine in Spina Bifida Transition: A Pilot Study Enrolling by invitation NCT03466996 Not Applicable
29 Cuff Pressure in Infants Not yet recruiting NCT03088761
30 Incontinence and Quality of Life in Children With Spina Bifida Not yet recruiting NCT03410667 Not Applicable
31 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, Heart, Testes

Publications for Myelomeningocele

Articles related to Myelomeningocele:

(show top 50) (show all 1360)
# Title Authors Year
1
Early Treadmill Practice in Infants Born With Myelomeningocele: A Pilot Study. ( 30507852 )
2019
2
Commentary on "Early Treadmill Practice in Infants Born With Myelomeningocele: A Pilot Study". ( 30557285 )
2019
3
Analysis of Denver Neurodevelopmental Screening Test Results of Myelomeningocele, Hydrocephalus, and Microcephaly Patients. ( 29899768 )
2018
4
Strategies and dental care in the treatment of patients with myelomeningocele. ( 29512828 )
2018
5
Early Administration of Magnesium Sulfate during Open Fetal Myelomeningocele Repair Reduces the Dose of Inhalational Anesthesia. ( 29672287 )
2018
6
Myelomeningocele with Unilateral Right Renal Agenesis: A Case Report. ( 29321944 )
2018
7
Comparison of Dorsal Intercostal Artery Perforator Propeller Flaps and Bilateral Rotation Flaps in Reconstruction of Myelomeningocele Defects. ( 29694666 )
2018
8
Prenatal superior to postnatal myelomeningocele surgery. ( 29936963 )
2018
9
Surgical Management of Myelomeningocele-Related Spinal Deformities. ( 29355795 )
2018
10
Fetal modified left myocardial performance index monitoring during open surgery for myelomeningocele repair. ( 29943857 )
2018
11
Complications, Results, and Risk Factors of Spinal Fusion in Patients With Myelomeningocele. ( 29886920 )
2018
12
Intellectual efficiency in children and adolescents with spina bifida myelomeningocele and shunted hydrocephalus. ( 29451990 )
2018
13
Latex sensitization in patients with myelomeningocele: contribution of microarray technique. ( 29479928 )
2018
14
The Management of Myelomeningocele Study: full cohort 30-month pediatric outcomes. ( 29246577 )
2018
15
Transpsoas cystolitholapaxy in a pediatric patient with myelomeningocele, augmented neobladder, and Mitrofanoff appendicovesicostomy. ( 29904501 )
2018
16
Energy Efficiency in Children With Myelomeningocele During Acute Use of Assistive Devices: A Pilot Study. ( 29313712 )
2018
17
Surgical treatment of patients with myelomeningocele-related spine deformities: study of 26 cases. ( 29372371 )
2018
18
The Use of External Ventricular Drainage to Reduce the Frequency of Wound Complications in Myelomeningocele Closure. ( 29316543 )
2018
19
Fetal blood gas values during fetoscopic myelomeningocele repair performed under carbon dioxide insufflation. ( 29750436 )
2018
20
Body composition and energy expenditure in a population of children and adolescents with myelomeningocele. ( 29333813 )
2018
21
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
22
Predictors of mortality in children with myelomeningocele and symptomatic Chiari type II malformation. ( 29570035 )
2018
23
Coincident myelomeningocele and gastroschisis: report of 2 cases. ( 29521606 )
2018
24
Myelomeningocele closure by unilateral lumbar artery perforator flap: Experience with thirty-eight patients. ( 29953654 )
2018
25
Homologous cryopreserved amniotic membrane in the repair of myelomeningocele: preliminary experience. ( 29858946 )
2018
26
Experience in shunt management on revision free survival in infants with myelomeningocele. ( 29582171 )
2018
27
The Use of a Wheelchair Propulsion Field Test to Determine Peak Heart Rate in Children and Adolescents With Myelomeningocele. ( 29485935 )
2018
28
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
29
Perinatal outcomes after open fetal surgery for myelomeningocele repair: a retrospective cohort study. ( 29878531 )
2018
30
Duplex Ultrasonography-Assisted Freestyle Pedicled Perforator Flaps for the Repair of Myelomeningocele Defects. ( 29319575 )
2018
31
Adipofascial Flaps With Acellular Dermal Matrix Compared With Myocutaneous Flap Reconstruction in Lumbar Myelomeningocele Defects. ( 29750727 )
2018
32
Decompression for Chiari malformation type II in individuals with myelomeningocele in the National Spina Bifida Patient Registry. ( 30141752 )
2018
33
RE: Pastuszka et al. Prenatal myelomeningocele repair improves urinary continence and reduces the risk of constipation. ( 30411814 )
2018
34
Prenatal myelomeningocele repair improves urinary continence and reduces the risk of constipation. ( 30058735 )
2018
35
Clinical evaluation and surveillance imaging of children with myelomeningocele and shunted hydrocephalus: a follow-up study. ( 30497223 )
2018
36
Treated hydrocephalus in individuals with myelomeningocele in the National Spina Bifida Patient Registry. ( 30141753 )
2018
37
Klippel-Feil Syndrome with Auxiliary Anterior Cervical Meningomyelocele and Thoracic Syringomyelia: A Case Report. ( 30028777 )
2018
38
Myelocystocele Mimicking Myelomeningocele: A Case Report and Review of the Literature. ( 30092480 )
2018
39
Rare Giant Prevertebral Thoracic Myelomeningocele. ( 29042329 )
2018
40
Intradural spine surgery may not carry an increased risk of shunt revision compared with extradural spine surgery in pediatric patients with myelomeningocele. ( 29053056 )
2018
41
Two-Port Fetoscopic Repair of Myelomeningocele in Fetal Lambs. ( 29466789 )
2018
42
Children with myelomeningocele do not exhibit normal remodeling of tibia roundness with physical development. ( 29991457 )
2018
43
Twenty years' experience with myelomeningocele management at a single institution: lessons learned. ( 30004312 )
2018
44
Fetal blood gases at fetoscopic myelomeningocele repair. ( 30022559 )
2018
45
Indomethacin Dosing and Constriction of the Ductus Arteriosus During Open Fetal Surgery for Myelomeningocele Repair. ( 30157479 )
2018
46
Respiratory morbidities in late preterm and term infants with myelomeningocele. ( 30166620 )
2018
47
Urinary continence appears to enhance social participation and intimate relations in adolescents with myelomeningocele. ( 30228091 )
2018
48
Ethical Issues in Intrauterine Myelomeningocele Surgery. ( 30235082 )
2018
49
A clinician's concerns about motor function outcomes of fetal surgery for myelomeningocele. ( 30243606 )
2018
50
Damaged cardiovascular autonomic control in wheelchair-using children and adolescents with myelomeningocele: a case-control study. ( 30243858 )
2018

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 21)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.87 CELSR1 DACT1 PAX3 SCRIB TBXT VANGL1
2 anterior/posterior pattern specification GO:0009952 9.72 CELSR1 TBXT VANGL2
3 wound healing GO:0042060 9.7 CELSR1 SCRIB VANGL2
4 hair follicle development GO:0001942 9.6 CELSR1 VANGL2
5 regulation of canonical Wnt signaling pathway GO:0060828 9.59 DACT1 FOLR1
6 regulation of Wnt signaling pathway GO:0030111 9.58 DACT1 VANGL2
7 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.58 SCRIB VANGL2
8 post-anal tail morphogenesis GO:0036342 9.57 TBXT VANGL2
9 establishment of planar polarity GO:0001736 9.56 CELSR1 VANGL2
10 planar cell polarity pathway involved in neural tube closure GO:0090179 9.54 CELSR1 VANGL2
11 apical protein localization GO:0045176 9.51 CELSR1 VANGL2
12 homocysteine metabolic process GO:0050667 9.49 CBS MTHFR
13 folate import across plasma membrane GO:1904447 9.48 FOLR1 SLC19A1
14 establishment of body hair planar orientation GO:0048105 9.46 CELSR1 VANGL2
15 lateral sprouting involved in lung morphogenesis GO:0060490 9.43 CELSR1 VANGL2
16 folic acid metabolic process GO:0046655 9.43 FOLR1 MTHFR SLC19A1
17 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.4 CELSR1 VANGL2
18 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.37 CELSR1 VANGL2
19 folic acid transport GO:0015884 9.33 FOLR1 FOLR3 SLC19A1
20 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.26 CELSR1 PRICKLE1 VANGL1 VANGL2
21 neural tube closure GO:0001843 9.1 CELSR1 MTHFR PRICKLE1 SCRIB TBXT VANGL2

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

# Name GO ID Score Top Affiliating Genes
1 modified amino acid binding GO:0072341 8.96 CBS MTHFR
2 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
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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
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74 UMLS via Orphanet
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