MCID: MYL020
MIFTS: 51

Myelomeningocele malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Myelomeningocele

Summaries for Myelomeningocele

NIH Rare Diseases : 50 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 renal agenesis meningomyelocele mullerian defect and neural tube defects. 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 bone, and related phenotypes are growth/size/body region and mortality/aging

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.

Disease Ontology : 12 A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.

Related Diseases for Myelomeningocele

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

(show top 50) (show all 118)
id Related Disease Score Top Affiliating Genes
1 renal agenesis meningomyelocele mullerian defect 11.8
2 neural tube defects 11.3
3 chiari malformation type ii 11.3
4 chiari malformation 11.1
5 neural tube defects, folate-sensitive 10.9
6 schwartz cohen-addad lambert syndrome 10.8
7 heterotaxy, visceral, 1, x-linked 10.7
8 congenital laryngeal palsy 10.7
9 hydrocephalus 10.2
10 anal spasm 10.2 CBS MTHFR
11 homocystinuria due to mthfr deficiency 10.1 MTHFR MTR
12 nystagmus 2, congenital, autosomal dominant 10.1 CBS MTHFR
13 neurogenic bladder 10.1
14 myh7-related myosin storage myopathy 10.1 CBS MTHFR MTR
15 hyperekplexia 2, autosomal recessive 10.1 MTHFR MTR
16 borderline glaucoma 10.1 CBS MTHFR MTR
17 cervicitis 10.1
18 cervix small cell carcinoma 10.0 CBS MTHFR MTR
19 scoliosis 10.0
20 x-linked disease 9.9 MTR MTRR
21 coenzyme q10 deficiency disease 9.9 MTHFR MTR
22 autosomal dominant disease 9.9 MTR MTRR
23 methylmalonic aciduria and homocystinuria, cblc type 9.9 CBS MTHFD1 MTR
24 ezh2-related overgrowth 9.9 MTR MTRR
25 crohn's disease 9.9 CELSR1 DACT1 SCRIB VANGL2
26 skeletal muscle regeneration 9.9 MTR MTRR
27 warburg micro syndrome 3 9.9 MTHFR MTR MTRR
28 agammaglobulinemia 2 9.9 MTHFR MTR MTRR
29 neurogenic bowel 9.8
30 cerebritis 9.8
31 vaginal glandular tumor 9.8 MTHFR MTR MTRR
32 diastematomyelia 9.8
33 clubfoot 9.8
34 chronic ethmoiditis 9.8 MTHFR MTR MTRR
35 myosclerosis, congenital 9.8 CBS MTHFR MTR MTRR
36 houlston ironton temple syndrome 9.8 CBS MTHFR MTR MTRR
37 cleft lip 9.8 CBS MTHFR MTR MTRR
38 encephalocele 9.7
39 spinal cord injury 9.7
40 strabismus 9.7
41 constipation 9.7
42 tethered cord syndrome 9.7
43 syringomyelia 9.7
44 meningocele 9.7
45 syringohydromyelia 9.7
46 pericarditis 9.7 CBS MTHFR MTR MTRR
47 hereditary acrokeratotic poikiloderma, weary type 9.7 MTHFD1 MTHFR T VANGL1 VANGL2
48 myelocystocele 9.7 MTHFD1 MTHFR T VANGL1 VANGL2
49 posterior meningocele 9.7 MTHFD1 MTHFR T VANGL1 VANGL2
50 pericardial and diaphragmatic defect 9.7 MTHFD1 MTHFR T 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:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.24 CELSR1 DACT1 MTHFD1 MTHFR MTRR PAX3
2 mortality/aging MP:0010768 10.17 PRICKLE1 SCRIB T VANGL1 VANGL2 CELSR1
3 embryo MP:0005380 10.16 VANGL2 CELSR1 DACT1 MTHFD1 PAX3 PRICKLE1
4 limbs/digits/tail MP:0005371 10.16 CELSR1 DACT1 MTHFD1 MTHFR PAX3 PRICKLE1
5 cardiovascular system MP:0005385 10.15 PAX3 PRICKLE1 SCRIB T VANGL1 VANGL2
6 nervous system MP:0003631 10.1 CELSR1 DACT1 MTHFD1 MTHFR PAX3 PRICKLE1
7 craniofacial MP:0005382 10.01 CELSR1 PAX3 PRICKLE1 SCRIB T VANGL2
8 digestive/alimentary MP:0005381 10 VANGL2 DACT1 PAX3 PRICKLE1 SCRIB T
9 hearing/vestibular/ear MP:0005377 9.95 CELSR1 PAX3 PRICKLE1 SCRIB VANGL1 VANGL2
10 no phenotypic analysis MP:0003012 9.91 DACT1 MTHFR PAX3 PRICKLE1 SCRIB T
11 renal/urinary system MP:0005367 9.8 DACT1 PAX3 PRICKLE1 SCRIB T VANGL2
12 reproductive system MP:0005389 9.8 CELSR1 DACT1 MTHFR SCRIB T VANGL1
13 respiratory system MP:0005388 9.63 CELSR1 PAX3 PRICKLE1 SCRIB VANGL1 VANGL2
14 skeleton MP:0005390 9.56 CELSR1 DACT1 MTHFR PAX3 PRICKLE1 T
15 vision/eye MP:0005391 9.1 MTHFR PAX3 PRICKLE1 SCRIB VANGL2 CELSR1

Drugs & Therapeutics for Myelomeningocele

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

(show all 20)
id 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 incobotulinumtoxinA Phase 4
8 Neuromuscular Agents Phase 4
9 Neurotransmitter Agents Phase 4,Phase 2
10 onabotulinumtoxinA Phase 4
11 Peripheral Nervous System Agents Phase 4
12
Darifenacin Approved, Investigational Phase 2 133099-04-4 444031
13 Cholinergic Antagonists Phase 2
14 Muscarinic Antagonists Phase 2
15 Methenamine Phase 1
16 Methenamine hippurate Phase 1
17 Acidophilus Nutraceutical Phase 1
18
Menthol Approved 2216-51-5 16666
19
Nitrous oxide Approved, Vet_approved 10024-97-2 948
20 Cola Nutraceutical

Interventional clinical trials:

(show all 22)
id Name Status NCT ID Phase
1 Effect of Botulinum Toxin in Neurogenic Bladders in Children With Myelomeningocele Unknown status NCT00175123 Phase 4
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 Suspended NCT00712322 Phase 2
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 Management of Myelomeningocele Study (MOMS) Completed NCT00060606
8 Fetal Myelomeningocele Completed NCT03073382
9 Reliability of the Melbourne Assessment Completed NCT02595411
10 Feasibility of the Portable YouGrabber System Completed NCT02368223
11 Prenatal Surgical Repair of Fetal Myelomeningocele Recruiting NCT01983345
12 Fetal Myelomeningocele Repair With Maternal BMI Between 35.0 and 40.0 Recruiting NCT02509377
13 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207
14 Open Myelomeningocele Repair With High Maternal BMI Recruiting NCT03044821
15 Evaluation of Hysterotomy Site After Open Fetal Surgery Recruiting NCT02493062
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 Retrograde Colonic Irrigation to Manage Spina Bifida Functional Digestive Sequelae: a Multicenter, Prospective, Randomized Controlled Trial Recruiting NCT02361450
20 Self-esteem and Neuro-urological Follow-up in Patients With Spina Bifida or Spinal Cord Injury Recruiting NCT01606618
21 Prenatal Endoscopic Repair of Fetal Spina Bifida Not yet recruiting NCT02390895
22 Cuff Pressure in Infants Not yet recruiting NCT03088761

Search NIH Clinical Center for Myelomeningocele

Cochrane evidence based reviews: meningomyelocele

Genetic Tests for Myelomeningocele

Genetic tests related to Myelomeningocele:

id Genetic test Affiliating Genes
1 Myelomeningocele 29

Anatomical Context for Myelomeningocele

MalaCards organs/tissues related to Myelomeningocele:

39
Spinal Cord, Brain, Bone, Skin, Heart, Testes, Smooth Muscle

Publications for Myelomeningocele

Articles related to Myelomeningocele:

(show top 50) (show all 647)
id Title Authors Year
1
Fetal surgery for myelomeningocele: current clinical practice and translational research. ( 27830929 )
2017
2
Reliability of extended dorsal intercostal artery perforator propeller flaps for reconstruction of large myelomeningocele defects. ( 27894916 )
2017
3
Ultrasound functional evaluation of fetuses with myelomeningocele: study of the interpretation of results. ( 27997256 )
2017
4
Ten-year survival of Ugandan infants after myelomeningocele closure. ( 27767901 )
2017
5
Walking activity during daily living in children with myelomeningocele. ( 27384911 )
2016
6
Distribution of interstitial cells of Cajal in the bladders of fetal rats with retinoic acid induced myelomeningocele. ( 27909623 )
2016
7
Use of dermal regeneration template to close a giant myelomeningocele in a newborn. ( 27503247 )
2016
8
Prevalence of latex allergy in a population of patients diagnosed with myelomeningocele. ( 26914072 )
2016
9
Adults with myelomeningocele and other forms of spinal dysraphism: hospital care in the United States since the turn of the millennium. ( 26926705 )
2016
10
Myelomeningocele - a single institute analysis of the years 2007 to 2015. ( 27086130 )
2016
11
Trends in epidemiology and hospitalization utilization for myelomeningocele repair from 2000 to 2009. ( 27112355 )
2016
12
Fetal Myelomeningocele Repair through a Mini-Hysterotomy. ( 27656888 )
2016
13
Managing fecal incontinence in patients with myelomeningocele in Sub-Saharan Africa: Role of antegrade continence enema (ACE). ( 27634558 )
2016
14
Commentary on "Bone Mineral Content in Infants With Myelomeningocele, With and Without Treadmill Stepping Practice". ( 27088681 )
2016
15
Latex sensitization in patients with myelomeningocele undergoing urological procedures: prevalence and associated factors. ( 27033690 )
2016
16
Kyphectomy in Children With Severe Myelomeningocele-Related Kyphosis. ( 27927508 )
2016
17
Third Ventricle Floor Variations and Abnormalities in Myelomeningocele Associated Hydrocephalus: An Experience in 455 Endoscopic Third Ventriculostomy Procedures. ( 27858385 )
2016
18
Fetal Heart Rate during in Utero Myelomeningocele Repair: Effect of Anesthesia and Analgesia. ( 27509040 )
2016
19
Cervical myelomeningocele associated with multiple spinal anomalies. ( 26994553 )
2016
20
Lack of efficacy of an intradural somatic-to-autonomic nerve anastomosis (Xiao procedure) for bladder control in children with myelomeningocele and lipomyelomeningocele: results of a prospective, randomized, double-blind study. ( 27137626 )
2016
21
Management of Lumbosacral Myelomeningocele. ( 28090243 )
2016
22
An Ideal Flap Alternative for Closure of Myelomeningocele Defects: Dorsal Intercostal Artery Perforator Flap. ( 27557461 )
2016
23
Can We Further Improve the Quality of Nephro-Urological Care in Children with Myelomeningocele? ( 27598183 )
2016
24
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
25
Infection rate correlated with time to repair of open neural tube defects (myelomeningoceles): an institutional and national study. ( 27444296 )
2016
26
Urological Outcome of the Xiao Procedure in Children with Myelomeningocele and Lipomyelomeningocele Undergoing Spinal Cord Detethering: Results of a Randomized, Prospective, Double-Blind Study. ( 27288694 )
2016
27
Closure of Myelomeningocele Defects Using a Limberg Flap or Direct Repair. ( 26848442 )
2016
28
Quantitative Analysis of Lower Leg Adipose Tissue Distribution in Youth with Myelomeningocele. ( 26961265 )
2016
29
Health-related quality of life in children with myelomeningocele: a systematic review of the literature. ( 27381478 )
2016
30
Maternal gene-micronutrient interactions related to one-carbon metabolism and the risk of myelomeningocele among offspring. ( 27384413 )
2016
31
Prenatal myelomeningocele repair: Do bladders better? ( 27862250 )
2016
32
Thirty-day outcomes after postnatal myelomeningocele repair: a National Surgical Quality Improvement Program Pediatric database analysis. ( 27258591 )
2016
33
A rare case of giant multiseptated thoracic myelomeningocele with segmental placode: Commentary. ( 27274401 )
2016
34
Correlation of mortality with lesion level in patients with myelomeningocele: a population-based study. ( 27911247 )
2016
35
Sequential morphological change of Chiari malformation type II following surgical repair of myelomeningocele. ( 26936599 )
2016
36
The impact of mode of delivery on infant neurologic outcomes in myelomeningocele. ( 27242203 )
2016
37
An Ideal Flap Alternative for Closure of Myelomeningocele Defects: Dorsal Intercostal Artery Perforator Flap. ( 28005733 )
2016
38
Surgical Management of Hip Problems in Myelomeningocele: A Review Article. ( 27517062 )
2016
39
The surgical treatment of spinal deformity in children with myelomeningocele: the role of personalized three-dimensional printed models. ( 27902634 )
2016
40
Does shunt selection affect the rate of early shunt complications in neonatal myelomeningocele-associated hydrocephalus? -a multi-center report. ( 27593850 )
2016
41
Impact on family and parental stress of prenatal vs postnatal repair of myelomeningocele. ( 27263997 )
2016
42
Rate of shunt revision as a function of age in patients with shunted hydrocephalus due to myelomeningocele. ( 27798984 )
2016
43
A 4-year prospective urological assessment of in utero Myelomeningocele repair: Does gestational age at birth play a role at later neurogenic bladder pattern? ( 27988193 )
2016
44
Bone Mineral Content in Infants With Myelomeningocele, With and Without Treadmill Stepping Practice. ( 27088680 )
2016
45
Footloose: Spinal Myoclonus after Myelomeningocele Repair. ( 26968832 )
2016
46
High-Dose Desflurane for Tocolysis During Intrapartum Myelomeningocele Repair in a Patient with Post-Adriamycin Cardiomyopathy. ( 27182782 )
2016
47
Survey on Current Postnatal Surgical Management of Myelomeningocele in Germany. ( 27273605 )
2016
48
A decision-making guide for the closure of myelomeningocele skin defects with or without primary repair. ( 27104629 )
2016
49
Genetic association of the glycine cleavage system genes and myelomeningocele. ( 27620832 )
2016
50
Independence in self-care activities in children with myelomeningocele: exploring factors based on the International Classification of Function model. ( 27830629 )
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:

id 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
11.95 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 25)
id Name GO ID Score Top Affiliating Genes
1 anterior/posterior pattern specification GO:0009952 9.76 CELSR1 T VANGL2
2 wound healing GO:0042060 9.75 CELSR1 SCRIB VANGL2
3 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.67 CELSR1 PRICKLE1 VANGL1 VANGL2
4 hair follicle development GO:0001942 9.62 CELSR1 VANGL2
5 cobalamin metabolic process GO:0009235 9.62 MTR MTRR
6 post-anal tail morphogenesis GO:0036342 9.61 T VANGL2
7 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.61 SCRIB VANGL2
8 establishment of planar polarity GO:0001736 9.6 CELSR1 VANGL2
9 planar cell polarity pathway involved in neural tube closure GO:0090179 9.59 CELSR1 VANGL2
10 tetrahydrofolate interconversion GO:0035999 9.57 MTHFD1 MTHFR
11 apical protein localization GO:0045176 9.56 CELSR1 VANGL2
12 sulfur amino acid metabolic process GO:0000096 9.55 MTR MTRR
13 homocysteine metabolic process GO:0050667 9.54 CBS MTHFR
14 transsulfuration GO:0019346 9.52 CBS MTHFD1
15 establishment of body hair planar orientation GO:0048105 9.51 CELSR1 VANGL2
16 folic acid metabolic process GO:0046655 9.5 MTHFD1 MTHFR MTRR
17 homocysteine catabolic process GO:0043418 9.49 CBS MTRR
18 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.46 CELSR1 VANGL2
19 cellular amino acid biosynthetic process GO:0008652 9.46 CBS MTHFD1 MTR MTRR
20 lateral sprouting involved in lung morphogenesis GO:0060490 9.43 CELSR1 VANGL2
21 methionine biosynthetic process GO:0009086 9.43 MTHFD1 MTR MTRR
22 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.4 CELSR1 VANGL2
23 methionine metabolic process GO:0006555 9.13 MTHFD1 MTHFR MTRR
24 neural tube closure GO:0001843 9.1 CELSR1 MTHFD1 PRICKLE1 SCRIB T VANGL2
25 multicellular organism development GO:0007275 10.02 CELSR1 DACT1 PAX3 SCRIB T VANGL1

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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