MCID: MYL020
MIFTS: 54

Myelomeningocele

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Myelomeningocele

Summaries for Myelomeningocele

NIH Rare Diseases : 49 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. Last updated: 1/11/2013

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 Metabolism of water-soluble vitamins and cofactors. 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 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 : 72 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 144)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 31.4 MTHFD1 MTHFR MTR MTRR
2 strabismus 29.8 PRICKLE1 VANGL1 VANGL2
3 neural tube defects 28.4 CBS CELSR1 DACT1 MTHFD1 MTHFR MTR
4 anencephaly 27.0 CELSR1 DACT1 MTHFD1 MTHFR MTR MTRR
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 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.3 MTHFR MTR
16 nondisjunction 10.2 MTHFR MTRR
17 vitamin metabolic disorder 10.2 MTHFR MTR
18 neurogenic bladder 10.2
19 lens subluxation 10.2 CBS MTHFR
20 glycine n-methyltransferase deficiency 10.1 CBS MTHFR
21 cervicitis 10.1
22 vitamin b12 deficiency 10.1 MTHFR MTR
23 methylmalonic aciduria and homocystinuria type cble 10.1 MTR MTRR
24 methylmalonic aciduria and homocystinuria type cblg 10.1 MTR MTRR
25 scoliosis 10.1
26 aging 10.0
27 blood group, i system 10.0
28 cerebritis 10.0
29 ischemic neuropathy 10.0 MTHFR NGF
30 placental choriocarcinoma 9.9 MTHFD1 MTR
31 craniorachischisis 9.9 CELSR1 DACT1 SCRIB VANGL2
32 neurogenic bowel 9.9
33 transcobalamin ii deficiency 9.9 MTHFR MTR MTRR
34 methylmalonic aciduria, cblb type 9.9 MTHFR MTR MTRR
35 diastematomyelia 9.9
36 lipomyelomeningocele 9.9
37 cerebral palsy 9.9
38 clubfoot 9.9
39 tethered cord syndrome 9.9
40 upper thoracic spina bifida cystica 9.9 MTHFD1 MTHFR VANGL1 VANGL2
41 placental abruption 9.9 MTHFD1 MTHFR
42 cervicothoracic spina bifida cystica 9.9 MTHFD1 MTHFR VANGL1 VANGL2
43 cervical spina bifida cystica 9.9 MTHFD1 MTHFR VANGL1 VANGL2
44 lumbosacral spina bifida cystica 9.9 MTHFD1 MTHFR VANGL1 VANGL2
45 thoracolumbosacral spina bifida cystica 9.9 MTHFD1 MTHFR VANGL1 VANGL2
46 cleft lip 9.9 MTHFR MTR MTRR
47 total spina bifida cystica 9.9 MTHFD1 MTHFR VANGL1 VANGL2
48 upper thoracic spina bifida aperta 9.9 MTHFD1 MTHFR VANGL1 VANGL2
49 thoracolumbosacral spina bifida aperta 9.9 MTHFD1 MTHFR VANGL1 VANGL2
50 lumbosacral spina bifida aperta 9.8 MTHFD1 MTHFR 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:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.2 MTHFR MTRR NGF PAX3 PRICKLE1 SCRIB
2 cardiovascular system MP:0005385 10.11 DACT1 MTHFD1 NGF PAX3 PRICKLE1 SCRIB
3 mortality/aging MP:0010768 10.11 MTHFR MTR NGF PAX3 PRICKLE1 SCRIB
4 embryo MP:0005380 10.08 CELSR1 DACT1 MTHFD1 PAX3 PRICKLE1 SCRIB
5 limbs/digits/tail MP:0005371 10.06 CELSR1 DACT1 MTHFD1 MTHFR PAX3 PRICKLE1
6 nervous system MP:0003631 10.02 CELSR1 DACT1 MTHFD1 MTHFR NGF PAX3
7 hearing/vestibular/ear MP:0005377 9.91 CELSR1 PAX3 PRICKLE1 SCRIB VANGL1 VANGL2
8 craniofacial MP:0005382 9.89 CELSR1 PAX3 PRICKLE1 SCRIB VANGL2
9 no phenotypic analysis MP:0003012 9.8 DACT1 MTHFR NGF PAX3 PRICKLE1 SCRIB
10 respiratory system MP:0005388 9.63 CELSR1 PAX3 PRICKLE1 SCRIB VANGL1 VANGL2
11 skeleton MP:0005390 9.5 CELSR1 DACT1 MTHFR PAX3 PRICKLE1 VANGL1
12 vision/eye MP:0005391 9.17 CELSR1 MTHFR NGF 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 Cholinergic Agents Phase 4,Phase 2
5 Neuromuscular Agents Phase 4
6 Neurotransmitter Agents Phase 4,Phase 2
7 onabotulinumtoxinA Phase 4
8 Peripheral Nervous System Agents Phase 4
9 Botulinum Toxins Phase 4
10 Botulinum Toxins, Type A Phase 4
11
Darifenacin Approved, Investigational Phase 2 133099-04-4 444031
12 Muscarinic Antagonists Phase 2
13 Cholinergic 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 2216-51-5 16666
18
Nitrous oxide Approved, Vet_approved 10024-97-2 948
19 Cola Nutraceutical

Interventional clinical trials:

(show all 24)

# 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 Brain Function and White Matter Changes in Congenital, Acute and Chronic Spinal Cord Lesions Completed NCT01208584 Phase 4
3 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
4 Bacteriuria Eradication Through Probiotics Unknown status NCT00717600 Phase 1
5 Fetoscopic Meningomyelocele Repair Study Recruiting NCT02230072 Phase 1
6 Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407
7 Fetal Myelomeningocele Completed NCT03073382
8 Management of Myelomeningocele Study (MOMS) Completed NCT00060606
9 Evaluation of Hysterotomy Site After Open Fetal Surgery Completed NCT02493062
10 Reliability of the Melbourne Assessment Completed NCT02595411
11 Feasibility of the Portable YouGrabber System Completed NCT02368223
12 Prenatal Surgical Repair of Fetal Myelomeningocele Recruiting NCT01983345
13 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207
14 Open Myelomeningocele Repair With High Maternal BMI Recruiting NCT03044821
15 Prenatal Endoscopic Repair of Fetal Spina Bifida Recruiting NCT02390895
16 Fetoscopic Repair of Isolated Fetal Spina Bifida Recruiting NCT03090633
17 Prospective Cohort of Transitional Urology Patients Recruiting NCT03061084
18 Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer Recruiting NCT01751503
19 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637
20 Retrograde Colonic Irrigation to Manage Spina Bifida Functional Digestive Sequelae: a Multicenter, Prospective, Randomized Controlled Trial Recruiting NCT02361450
21 Self-esteem and Neuro-urological Follow-up in Patients With Spina Bifida or Spinal Cord Injury Recruiting NCT01606618
22 Cuff Pressure in Infants Not yet recruiting NCT03088761
23 Incontinence and Quality of Life in Children With Spina Bifida Not yet recruiting NCT03410667
24 Fetal Myelomeningocele Repair With Maternal BMI Between 35.0 and 40.0 Terminated NCT02509377

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 28

Anatomical Context for Myelomeningocele

MalaCards organs/tissues related to Myelomeningocele:

38
Spinal Cord, Brain, Skin, Bone, Colon, Heart, Smooth Muscle

Publications for Myelomeningocele

Articles related to Myelomeningocele:

(show top 50) (show all 689)
# Title Authors Year
1
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
2
The Management of Myelomeningocele Study: full cohort 30-month pediatric outcomes. ( 29246577 )
2018
3
Energy Efficiency in Children With Myelomeningocele During Acute Use of Assistive Devices: A Pilot Study. ( 29313712 )
2018
4
Intellectual efficiency in children and adolescents with spina bifida myelomeningocele and shunted hydrocephalus. ( 29451990 )
2018
5
Myelomeningocele with Unilateral Right Renal Agenesis: A Case Report. ( 29321944 )
2018
6
Duplex Ultrasonography-Assisted Freestyle Pedicled Perforator Flaps for the Repair of Myelomeningocele Defects. ( 29319575 )
2018
7
Surgical Management of Myelomeningocele-Related Spinal Deformities. ( 29355795 )
2018
8
Surgical treatment of patients with myelomeningocele-related spine deformities: study of 26 cases. ( 29372371 )
2018
9
Body composition and energy expenditure in a population of children and adolescents with myelomeningocele. ( 29333813 )
2018
10
The Use of External Ventricular Drainage to Reduce the Frequency of Wound Complications in Myelomeningocele Closure. ( 29316543 )
2018
11
Lipomyelomeningocele for the urologist: Should we view it the same as myelomeningocele? ( 28583853 )
2017
12
Comparison of Prenatal and Postnatal Management of Patients with Myelomeningocele. ( 28600017 )
2017
13
Medical and socioeconomic predictors of quality of life in myelomeningocele patients with shunted hydrocephalus. ( 29249073 )
2017
14
Amniotic fluid transcriptomics reflects novel disease mechanisms in fetuses with myelomeningocele. ( 28735706 )
2017
15
Effect of Orthotic Gait Training with Isocentric Reciprocating Gait Orthosis on Walking in Children with Myelomeningocele. ( 29339891 )
2017
16
Spinal column shortening for tethered cord syndrome associated with myelomeningocele, lumbosacral lipoma, and lipomyelomeningocele in children and young adults. ( 28362188 )
2017
17
Amniotic Fluid Concentrations of Glial Fibrillary Acidic Protein Do Not Correlate with Prenatal Metrics in Fetuses with Myelomeningocele. ( 28768252 )
2017
18
Trends in incidence and long-term outcomes of myelomeningocele in British Columbia. ( 29236131 )
2017
19
Health self-management, transition readiness and adaptive behavior in persons with cerebral palsy or myelomeningocele. ( 28836807 )
2017
20
Mutations in folate transporter genes and risk for human myelomeningocele. ( 28948692 )
2017
21
Committee Opinion No. 720 Summary: Maternal-Fetal Surgery for Myelomeningocele. ( 28832482 )
2017
22
Long-term follow-up for keystone design perforator island flap for closure of myelomeningocele. ( 29255922 )
2017
23
Ultrasound functional evaluation of fetuses with myelomeningocele: study of the interpretation of results. ( 27997256 )
2017
24
Functional Independence of Children With Myelomeningocele: Is It Associated With the Informal Caregivers' Burden? ( 28888508 )
2017
25
A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia. ( 29302380 )
2017
26
Evaluation and Lifetime Management of the Urinary Tract in Patients with Myelomeningocele. ( 28716320 )
2017
27
Shunt revision rates in myelomeningocele patients in the first year of life: a retrospective study of 52 patients. ( 29159427 )
2017
28
The relationship between motor function, cognition, independence and quality of life in myelomeningocele patients. ( 28813080 )
2017
29
Early postnatal bladder function in fetoscopic myelomeningocele repair patients. ( 29125525 )
2017
30
MANAGEMENT OF MYELOMENINGOCELE IN THE PROVINCE OF KWAZULU-NATAL, SOUTH AFRICA. ( 28876688 )
2017
31
Advanced skeletal maturity in children and adolescents with myelomeningocele. ( 29125519 )
2017
32
Ultrasound based three-dimensional medical model printing for multispecialty team surgical rehearsal prior to fetoscopic myelomeningocele repair. ( 28850758 )
2017
33
Health-related quality of life in non-paraplegic (ambulatory) children with myelomeningocele. ( 28656385 )
2017
34
3q29 Chromosomal duplication in a neonate with associated myelomeningocele and midline cranial defects. ( 28763312 )
2017
35
Tibial derotational osteotomies in two neuromuscular populations: comparing cerebral palsy with myelomeningocele. ( 28904628 )
2017
36
Physician views regarding the benefits and burdens of prenatal surgery for myelomeningocele. ( 28617430 )
2017
37
Fetal Therapy Model of Myelomeningocele with Three-Dimensional Skin Using Amniotic Fluid Cell-Derived Induced Pluripotent Stem Cells. ( 28591652 )
2017
38
Fetal surgery for myelomeningocele: current clinical practice and translational research. ( 27830929 )
2017
39
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
40
Sleep-Disordered Breathing among Newborns with Myelomeningocele. ( 29221695 )
2017
41
Congenital lumbar kyphosis with skin ulceration and osteomyelitis in a myelomeningocele child: a case report. ( 28918465 )
2017
42
Complete Reversibility of the Chiari TYPE II Malformation Following Post Natal Repair of Myelomeningocele. ( 28867320 )
2017
43
Fetal Surgery for Myelomeningocele: A Systematic Review and Meta-Analysis of Outcomes in Fetoscopic versus Open Repair. ( 28910784 )
2017
44
Committee Opinion No. 720: Maternal-Fetal Surgery for Myelomeningocele. ( 28832491 )
2017
45
Ten-year survival of Ugandan infants after myelomeningocele closure. ( 27767901 )
2017
46
Reliability of extended dorsal intercostal artery perforator propeller flaps for reconstruction of large myelomeningocele defects. ( 27894916 )
2017
47
Neurosurgery concepts: Key perspectives on intrathecal fluorescein for detecting intraoperative cerebrospinal fluid leak during endoscopic endonasal surgery, spinal intraarterial chemotherapy, oligoastrocytoma classification by in situ molecular genetics, and prenatal myelomeningocele closure and the need for cerebrospinal fluid shunt placement. ( 27857862 )
2016
48
An Ideal Flap Alternative for Closure of Myelomeningocele Defects: Dorsal Intercostal Artery Perforator Flap. ( 28005733 )
2016
49
Use of dermal regeneration template to close a giant myelomeningocele in a newborn. ( 27503247 )
2016
50
Third Ventricle Floor Variations and Abnormalities in Myelomeningocele Associated Hydrocephalus: An Experience in 455 Endoscopic Third Ventriculostomy Procedures. ( 27858385 )
2016

Variations for Myelomeningocele

Expression for Myelomeningocele

Search GEO for disease gene expression data for Myelomeningocele.

Pathways for Myelomeningocele

Pathways related to Myelomeningocele according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 DACT1 PRICKLE1 SCRIB VANGL2
2
Show member pathways
12.28 MTHFD1 MTHFR MTR MTRR
3
Show member pathways
11.96 CBS MTHFR MTR
4 11.87 PAX3 SCRIB VANGL1
5
Show member pathways
11.69 CBS MTHFD1 MTHFR MTR MTRR
6
Show member pathways
11.58 CBS MTR MTRR
7
Show member pathways
11.17 CBS MTHFD1 MTHFR MTR MTRR
8 10.75 MTR MTRR
9
Show member pathways
10.21 CBS MTHFR
10
Show member pathways
9.93 MTR MTRR

GO Terms for Myelomeningocele

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 wound healing GO:0042060 9.75 CELSR1 SCRIB VANGL2
2 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.67 CELSR1 PRICKLE1 VANGL1 VANGL2
3 hair follicle development GO:0001942 9.61 CELSR1 VANGL2
4 cobalamin metabolic process GO:0009235 9.61 MTR MTRR
5 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.6 SCRIB VANGL2
6 establishment of planar polarity GO:0001736 9.59 CELSR1 VANGL2
7 planar cell polarity pathway involved in neural tube closure GO:0090179 9.58 CELSR1 VANGL2
8 tetrahydrofolate interconversion GO:0035999 9.57 MTHFD1 MTHFR
9 apical protein localization GO:0045176 9.56 CELSR1 VANGL2
10 sulfur amino acid metabolic process GO:0000096 9.54 MTR MTRR
11 homocysteine metabolic process GO:0050667 9.52 CBS MTHFR
12 transsulfuration GO:0019346 9.51 CBS MTHFD1
13 folic acid metabolic process GO:0046655 9.5 MTHFD1 MTHFR MTRR
14 establishment of body hair planar orientation GO:0048105 9.49 CELSR1 VANGL2
15 homocysteine catabolic process GO:0043418 9.48 CBS MTRR
16 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.46 CELSR1 VANGL2
17 cellular amino acid biosynthetic process GO:0008652 9.46 CBS MTHFD1 MTR MTRR
18 lateral sprouting involved in lung morphogenesis GO:0060490 9.43 CELSR1 VANGL2
19 methionine biosynthetic process GO:0009086 9.43 MTHFD1 MTR MTRR
20 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.4 CELSR1 VANGL2
21 methionine metabolic process GO:0006555 9.13 MTHFD1 MTHFR MTRR
22 neural tube closure GO:0001843 9.02 CELSR1 MTHFD1 PRICKLE1 SCRIB VANGL2
23 multicellular organism development GO:0007275 10.02 CELSR1 DACT1 PAX3 SCRIB VANGL1 VANGL2

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

# Name GO ID Score Top Affiliating Genes
1 NADP binding GO:0050661 8.96 MTHFR MTRR
2 modified amino acid binding GO:0072341 8.62 CBS MTHFR

Sources for Myelomeningocele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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