MCID: MYL020
MIFTS: 50

Myelomeningocele

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 neural tube defects, folate-sensitive and spina bifida aperta. An important gene associated with Myelomeningocele is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Signaling by Wnt and Carbon metabolism. 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 mortality/aging

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.

Related Diseases for Myelomeningocele

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

(show top 50) (show all 114)
id Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 31.2 MTHFR MTR MTRR
2 spina bifida aperta 29.3 MTHFR T VANGL1 VANGL2
3 neural tube defects 26.8 CBS CELSR1 DACT1 MTHFR MTR MTRR
4 renal agenesis meningomyelocele mullerian defect 11.8
5 chiari malformation type ii 11.3
6 chiari malformation 11.1
7 schwartz cohen-addad lambert syndrome 10.8
8 heterotaxy, visceral, 1, x-linked 10.7
9 otopalatodigital syndrome, type ii 10.7
10 congenital laryngeal palsy 10.7
11 hydrocephalus 10.2
12 megacolon 10.2 CBS MTHFR
13 congenital intrinsic factor deficiency 10.2 MTR MTRR
14 x-linked disease 10.2 MTR MTRR
15 serine deficiency 10.2 MTHFR MTR
16 candidiasis, familial, 6, autosomal dominant 10.1 CBS MTHFR
17 methylmalonic aciduria and homocystinuria type cblg 10.1 MTHFR MTR
18 neurogenic bladder 10.1
19 factor v leiden thrombophilia 10.1 MTR MTRR
20 cervicitis 10.1
21 paget's disease of bone 10.0 PRICKLE1 VANGL1 VANGL2
22 scoliosis 10.0
23 homocystinuria due to mthfr deficiency 10.0 CBS MTHFR MTR
24 agammaglobulinemia 2 9.9 MTHFR MTR MTRR
25 thoracolumbosacral spina bifida cystica 9.9 MTHFR T VANGL1 VANGL2
26 upper thoracic spina bifida aperta 9.9 MTHFR T VANGL1 VANGL2
27 cerebritis 9.9
28 occipital encephalocele 9.9 MTHFR T VANGL1 VANGL2
29 homocystinuria 9.9 CBS MTHFR MTR
30 cranial meningocele 9.9 MTHFR T VANGL1 VANGL2
31 myelocystocele 9.9 MTHFR T VANGL1 VANGL2
32 phakomatosis pigmentokeratotica 9.9 MTHFR T VANGL1 VANGL2
33 posterior meningocele 9.9 MTHFR T VANGL1 VANGL2
34 closed iniencephaly 9.9 MTHFR T VANGL1 VANGL2
35 total spina bifida aperta 9.9 MTHFR T VANGL1 VANGL2
36 intraocular medulloepithelioma 9.9 MTHFR T VANGL1 VANGL2
37 intermediate maple syrup urine disease 9.9 MTHFR T VANGL1 VANGL2
38 vaginal glandular tumor 9.9 MTHFR MTR MTRR
39 critical limb ischemia 9.9 CELSR1 DACT1 SCRIB VANGL2
40 neurogenic bowel 9.8
41 orbital disease 9.8 MTHFR MTR MTRR
42 diastematomyelia 9.8
43 clubfoot 9.8
44 cerebral palsy 9.8
45 lipomyelomeningocele 9.8
46 tethered cord syndrome 9.8
47 methylmalonic aciduria and homocystinuria, cblc type 9.8 CBS MTR
48 malignant type ab thymoma 9.8 CBS MTHFR MTR
49 syringomyelia 9.7
50 meningocele 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:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 CELSR1 DACT1 MTHFR MTRR NGF PAX3
2 mortality/aging MP:0010768 10.17 CELSR1 DACT1 MTHFR MTR NGF PAX3
3 cardiovascular system MP:0005385 10.16 VANGL2 DACT1 NGF PAX3 PRICKLE1 SCRIB
4 embryo MP:0005380 10.13 CELSR1 DACT1 PAX3 PRICKLE1 SCRIB T
5 limbs/digits/tail MP:0005371 10.11 MTHFR PAX3 PRICKLE1 SCRIB T VANGL1
6 nervous system MP:0003631 10.1 NGF PAX3 PRICKLE1 SCRIB T VANGL1
7 craniofacial MP:0005382 10.02 CELSR1 PAX3 PRICKLE1 SCRIB T VANGL2
8 digestive/alimentary MP:0005381 10.01 DACT1 PAX3 PRICKLE1 SCRIB T VANGL2
9 hearing/vestibular/ear MP:0005377 9.97 VANGL2 CELSR1 PAX3 PRICKLE1 SCRIB VANGL1
10 no phenotypic analysis MP:0003012 9.97 DACT1 MTHFR NGF PAX3 PRICKLE1 SCRIB
11 integument MP:0010771 9.95 CELSR1 MTHFR NGF PAX3 PRICKLE1 T
12 renal/urinary system MP:0005367 9.8 DACT1 PAX3 PRICKLE1 SCRIB T VANGL2
13 reproductive system MP:0005389 9.8 CELSR1 DACT1 MTHFR SCRIB T VANGL1
14 respiratory system MP:0005388 9.63 CELSR1 PAX3 PRICKLE1 SCRIB VANGL1 VANGL2
15 skeleton MP:0005390 9.56 CELSR1 DACT1 MTHFR PAX3 PRICKLE1 T
16 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)
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 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 2216-51-5 16666
18
Nitrous oxide Approved, Vet_approved 10024-97-2 948
19 Cola Nutraceutical

Interventional clinical trials:

(show all 22)

id 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 Suspended 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 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 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207
13 Open Myelomeningocele Repair With High Maternal BMI Recruiting NCT03044821
14 Evaluation of Hysterotomy Site After Open Fetal Surgery Recruiting NCT02493062
15 Fetoscopic Repair of Isolated Fetal Spina Bifida Recruiting NCT03090633
16 Prospective Cohort of Transitional Urology Patients Recruiting NCT03061084
17 Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer Recruiting NCT01751503
18 Retrograde Colonic Irrigation to Manage Spina Bifida Functional Digestive Sequelae: a Multicenter, Prospective, Randomized Controlled Trial Recruiting NCT02361450
19 Self-esteem and Neuro-urological Follow-up in Patients With Spina Bifida or Spinal Cord Injury Recruiting NCT01606618
20 Prenatal Endoscopic Repair of Fetal Spina Bifida Not yet recruiting NCT02390895
21 Cuff Pressure in Infants Not yet recruiting NCT03088761
22 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:

id Genetic test Affiliating Genes
1 Myelomeningocele 29

Anatomical Context for Myelomeningocele

MalaCards organs/tissues related to Myelomeningocele:

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

Publications for Myelomeningocele

Articles related to Myelomeningocele:

(show top 50) (show all 669)
id Title Authors Year
1
Health-related quality of life in non-paraplegic (ambulatory) children with myelomeningocele. ( 28656385 )
2017
2
Fetal Therapy Model of Myelomeningocele with Three-Dimensional Skin Using Amniotic Fluid Cell-Derived Induced Pluripotent Stem Cells. ( 28591652 )
2017
3
Spinal column shortening for tethered cord syndrome associated with myelomeningocele, lumbosacral lipoma, and lipomyelomeningocele in children and young adults. ( 28362188 )
2017
4
The relationship between motor function, cognition, independence and quality of life in myelomeningocele patients. ( 28813080 )
2017
5
Evaluation and Lifetime Management of the Urinary Tract in Patients with Myelomeningocele. ( 28716320 )
2017
6
Health self-management, transition readiness and adaptive behavior in persons with cerebral palsy or myelomeningocele. ( 28836807 )
2017
7
Amniotic fluid transcriptomics reflects novel disease mechanisms in fetuses with myelomeningocele. ( 28735706 )
2017
8
Comparison of Prenatal and Postnatal Management of Patients with Myelomeningocele. ( 28600017 )
2017
9
Ultrasound based three-dimensional medical model printing for multispecialty team surgical rehearsal prior to fetoscopic myelomeningocele repair. ( 28850758 )
2017
10
Ten-year survival of Ugandan infants after myelomeningocele closure. ( 27767901 )
2017
11
Fetal surgery for myelomeningocele: current clinical practice and translational research. ( 27830929 )
2017
12
Reliability of extended dorsal intercostal artery perforator propeller flaps for reconstruction of large myelomeningocele defects. ( 27894916 )
2017
13
Mutations in folate transporter genes and risk for human myelomeningocele. ( 28948692 )
2017
14
3q29 Chromosomal duplication in a neonate with associated myelomeningocele and midline cranial defects. ( 28763312 )
2017
15
Amniotic Fluid Concentrations of Glial Fibrillary Acidic Protein Do Not Correlate with Prenatal Metrics in Fetuses with Myelomeningocele. ( 28768252 )
2017
16
Fetal Surgery for Myelomeningocele: A Systematic Review and Meta-Analysis of Outcomes in Fetoscopic versus Open Repair. ( 28910784 )
2017
17
Lipomyelomeningocele for the urologist: Should we view it the same as myelomeningocele? ( 28583853 )
2017
18
Committee Opinion No. 720: Maternal-Fetal Surgery for Myelomeningocele. ( 28832491 )
2017
19
Committee Opinion No. 720 Summary: Maternal-Fetal Surgery for Myelomeningocele. ( 28832482 )
2017
20
Functional Independence of Children With Myelomeningocele: Is It Associated With the Informal Caregivers' Burden? ( 28888508 )
2017
21
Ultrasound functional evaluation of fetuses with myelomeningocele: study of the interpretation of results. ( 27997256 )
2017
22
Physician views regarding the benefits and burdens of prenatal surgery for myelomeningocele. ( 28617430 )
2017
23
Congenital lumbar kyphosis with skin ulceration and osteomyelitis in a myelomeningocele child: a case report. ( 28918465 )
2017
24
Complete Reversibility of the Chiari TYPE II Malformation Following Post Natal Repair of Myelomeningocele. ( 28867320 )
2017
25
Tibial derotational osteotomies in two neuromuscular populations: comparing cerebral palsy with myelomeningocele. ( 28904628 )
2017
26
MANAGEMENT OF MYELOMENINGOCELE IN THE PROVINCE OF KWAZULU-NATAL, SOUTH AFRICA. ( 28876688 )
2017
27
Genetic association of the glycine cleavage system genes and myelomeningocele. ( 27620832 )
2016
28
Sequential morphological change of Chiari malformation type II following surgical repair of myelomeningocele. ( 26936599 )
2016
29
Management of Lumbosacral Myelomeningocele. ( 28090243 )
2016
30
Fetal Myelomeningocele Repair through a Mini-Hysterotomy. ( 27656888 )
2016
31
Rate of shunt revision as a function of age in patients with shunted hydrocephalus due to myelomeningocele. ( 27798984 )
2016
32
Health-related quality of life in children with myelomeningocele: a systematic review of the literature. ( 27381478 )
2016
33
Right-Sided Congenital Diaphragmatic Hernia and Myelomeningocele: A Rare Association. ( 28043315 )
2016
34
Adults with myelomeningocele and other forms of spinal dysraphism: hospital care in the United States since the turn of the millennium. ( 26926705 )
2016
35
An Ideal Flap Alternative for Closure of Myelomeningocele Defects: Dorsal Intercostal Artery Perforator Flap. ( 28005733 )
2016
36
Independence in self-care activities in children with myelomeningocele: exploring factors based on the International Classification of Function model. ( 27830629 )
2016
37
Re: Prenatal ultrasound evaluation of segmental level of neurological lesion in fetuses with myelomeningocele: development of a new technique. E.Carreras, A. Maroto, T. Illescas, M. MelAcndez, S. ArAcvalo, J. L. PeirA^, C. G. GarcA-a-Fontecha, M. Belfort and A. Cuxart. Ultrasound Obstet Gynecol 2016; 47: 162-167. ( 26833638 )
2016
38
Does shunt selection affect the rate of early shunt complications in neonatal myelomeningocele-associated hydrocephalus? -a multi-center report. ( 27593850 )
2016
39
Myelomeningocele - a single institute analysis of the years 2007 to 2015. ( 27086130 )
2016
40
Use of dermal regeneration template to close a giant myelomeningocele in a newborn. ( 27503247 )
2016
41
Fetal Heart Rate during in Utero Myelomeningocele Repair: Effect of Anesthesia and Analgesia. ( 27509040 )
2016
42
Current Selection Criteria and Perioperative Therapy Used for Fetal Myelomeningocele Surgery. ( 26855109 )
2016
43
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
44
Prenatal myelomeningocele repair: Do bladders better? ( 27862250 )
2016
45
The impact of mode of delivery on infant neurologic outcomes in myelomeningocele. ( 27242203 )
2016
46
A decision-making guide for the closure of myelomeningocele skin defects with or without primary repair. ( 27104629 )
2016
47
Congenital high airway obstruction syndrome (CHAOS) associated with cervical myelomeningocele. ( 27874207 )
2016
48
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
49
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
50
Footloose: Spinal Myoclonus after Myelomeningocele Repair. ( 26968832 )
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
12.5 DACT1 PRICKLE1 SCRIB VANGL2
2
Show member pathways
11.9 CBS MTHFR MTR
3 11.8 PAX3 SCRIB VANGL1
4
Show member pathways
11.52 CBS MTR MTRR
5
Show member pathways
11.07 CBS MTHFR MTR MTRR
6 10.66 MTR MTRR
7
Show member pathways
10.11 CBS MTHFR
8
Show member pathways
9.73 MTR MTRR

GO Terms for Myelomeningocele

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.91 CELSR1 DACT1 PAX3 SCRIB T VANGL1
2 anterior/posterior pattern specification GO:0009952 9.73 CELSR1 T VANGL2
3 wound healing GO:0042060 9.72 CELSR1 SCRIB VANGL2
4 hair follicle development GO:0001942 9.61 CELSR1 VANGL2
5 cobalamin metabolic process GO:0009235 9.61 MTR MTRR
6 cellular amino acid biosynthetic process GO:0008652 9.61 CBS MTR MTRR
7 folic acid metabolic process GO:0046655 9.6 MTHFR MTRR
8 post-anal tail morphogenesis GO:0036342 9.59 T VANGL2
9 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.58 SCRIB VANGL2
10 establishment of planar polarity GO:0001736 9.58 CELSR1 VANGL2
11 planar cell polarity pathway involved in neural tube closure GO:0090179 9.57 CELSR1 VANGL2
12 methionine biosynthetic process GO:0009086 9.54 MTR MTRR
13 apical protein localization GO:0045176 9.52 CELSR1 VANGL2
14 sulfur amino acid metabolic process GO:0000096 9.51 MTR MTRR
15 methionine metabolic process GO:0006555 9.49 MTHFR MTRR
16 homocysteine metabolic process GO:0050667 9.48 CBS MTHFR
17 establishment of body hair planar orientation GO:0048105 9.46 CELSR1 VANGL2
18 homocysteine catabolic process GO:0043418 9.4 CBS MTRR
19 lateral sprouting involved in lung morphogenesis GO:0060490 9.32 CELSR1 VANGL2
20 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.26 CELSR1 VANGL2
21 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.26 CELSR1 PRICKLE1 VANGL1 VANGL2
22 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.16 CELSR1 VANGL2
23 neural tube closure GO:0001843 9.02 CELSR1 PRICKLE1 SCRIB T VANGL2

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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