MCID: MYL020
MIFTS: 51

Myelomeningocele malady

Summaries for Myelomeningocele

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43NIH Rare Diseases, 3CDC, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Myelomeningocele, also known as meningomyelocele, is related to spina bifida and neural tube defects. An important gene associated with Myelomeningocele is CBS (cystathionine-beta-synthase), and among its related pathways are Trans-sulfuration pathway and Cysteine and methionine metabolism. The compounds dehydroepiandrosterone sulfate and tamoxifen have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and spinal cord, and related mouse phenotypes are endocrine/exocrine gland and limbs/digits/tail.

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:64 Spina bifida (Latin: \"split spine\") is a developmental congenital disorder caused by the incomplete... more...

Aliases & Classifications for Myelomeningocele

Sources:
43NIH Rare Diseases, 45Novoseek
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Aliases & Descriptions:

myelomeningocele 43 45
meningomyelocele 43


Related Diseases for Myelomeningocele

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Myelomeningocele via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 275)
idRelated DiseaseScoreTop Affiliating Genes
1spina bifida30.8MTRR, MTHFD1, MTHFR, MTR, CBS, VANGL1
2neural tube defects30.1MTRR, MTHFD1, MTHFR, MTR, CBS, VANGL1
3anencephaly30.0MTHFR
4growth hormone deficiency30.0BGLAP, PRL, IGFBP3, IGF1, LEP
5hyperhomocysteinemia29.8SOD1, MTRR, MTHFR, MTR, CBS
6venous thrombosis29.8MTHFR, MTR, CBS
7parkinson's disease29.7SOD2, SOD1, MTR, TPPP3
8precocious puberty29.7LEP, IGF1, IGFBP3, PRL, GNRH1
9neurogenic bladder10.4
10imperforate anus10.3
11chiari malformations10.3
12neurogenic bowel10.2
13n syndrome10.2
14renal agenesis meningomyelocele mullerian defect10.2
15sacrococcygeal teratoma10.2
16syringomyelia10.1
17meningocele10.1
18chiari malformation type 210.1
19encephalocele10.1
20diastematomyelia10.1
21spinal cord injury10.1
22syringohydromyelia10.1
23renal agenesis10.1
24spina bifida occulta10.1
25omphalocele10.1
26focal dermal hypoplasia10.0
27tethered spinal cord syndrome10.0
28waardenburg's syndrome10.0
29clubfoot10.0
30strabismus10.0
31talipes equinovarus10.0
32encephaloceles10.0
33spasticity10.0
34teratoma10.0
35spina bifida aperta10.0
36acute myocardial infarction10.0CBS
37migraine10.0MTHFR
38thyrotoxicosis10.0TRH
39retinal detachment10.0CBS
40mccune albright syndrome10.0GNRH1
41acute leukemia10.0MTHFR
42thyroiditis10.0TRH
43endogenous depression10.0TRH
44endometriosis10.0GNRH1
45prostatic hypertrophy10.0GNRH1
46eclampsia10.0MTHFR
47sensorineural hearing loss10.0PAX3
48panic disorder10.0TRH
49placental abruption10.0MTHFR
50retinal vein occlusion10.0MTHFR

Graphical network of the top 20 diseases related to Myelomeningocele:



Diseases related to myelomeningocele

Clinical Features for Myelomeningocele

Drugs & Therapeutics for Myelomeningocele

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Myelomeningocele

Drug clinical trials:

Search ClinicalTrials for Myelomeningocele

Search NIH Clinical Center for Myelomeningocele

Search CenterWatch for Myelomeningocele

Genetic Tests for Myelomeningocele

Anatomical Context for Myelomeningocele

Sources:
33MalaCards
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MalaCards organs/tissues related to Myelomeningocele:

33
Brain, Cortex, Spinal cord, Heart, Smooth muscle, Skeletal muscle, Small intestine, Liver, Skin, Uterus, Placenta, Testis, Tonsil, T cells, Fetal brain, Fetal liver, Uterus corpus

Animal Models for Myelomeningocele or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Myelomeningocele

Sources:
51PubMed
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Articles related to Myelomeningocele:

(show top 50)    (show all 525)
idTitleAuthorsYear
1
Protrusion of a peritoneal catheter via abdominal wall and operated myelomeningocele area: a rare complication of ventriculoperitoneal shunt. (23563809)
2013
2
Fetal Surgery in Zurich: Key Features of Our First Open in utero Repair of Myelomeningocele. (23165510)
2013
3
Effect of preschool working memory, language, and narrative abilities on inferential comprehension at school-age in children with spina bifida myelomeningocele and typically developing children. (23388065)
2013
4
Quality of life and functional disability in skeletally mature patients with myelomeningocele-related spinal deformity. (23197183)
2013
5
Intrauterine myelomeningocele repair postnatal results and follow-up at 3.5 years of age--initial experience from a single reference service in Brazil. (22205531)
2012
6
Fetal myelomeningocele repair: a new standard of care. (22840506)
2012
7
Open fetal surgery for myelomeningocele. (22380954)
2012
8
Poland syndrome with extracorporeal intercostal liver herniation and thoracic myelomeningocele. (22244430)
2012
9
Fetal endoscopic myelomeningocele closure preserves segmental neurological function. (22126123)
2012
10
Fetal endoscopic myelomeningocele repair. (22126087)
2012
11
Double myelomeningocele: case report. (21513453)
2011
12
Infection in myelomeningocele after VP shunt placement. (21210126)
2011
13
Quality of life in children and adolescents with cerebral palsy and myelomeningocele. (21824563)
2011
14
Influence of birth mode on early neurological outcome in infants with myelomeningocele. (21333435)
2011
15
Neurogenic bowel dysfunction in patients with spinal cord injury, myelomeningocele, multiple sclerosis and Parkinson's disease. (22171138)
2011
16
Kyphectomy in children with myelomeningocele. (20957462)
2011
17
Interrelationships of sex, level of lesion, and transition outcomes among young adults with myelomeningocele. (21410695)
2011
18
Myelomeningocele. (21041422)
2010
19
Fractures in myelomeningocele. (20721596)
2010
20
Bone mineral density in children with myelomeningocele. (18811711)
2009
21
Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele. (19487512)
2009
22
Oral findings and dental care in a patient with myelomeningocele: case report of a 3-year-old child. (20126914)
2009
23
Risk factors for latex sensitization in young children with myelomeningocele. Clinical article. (19772416)
2009
24
A new approach to closure of myelomeningocele defect: z advancement-rotation flap. (19034080)
2008
25
Myelomeningocele: neglected aspects. (18200450)
2008
26
Repair of wide myelomeningocele defects with the bilateral fasciocutaneous flap method. (18814125)
2008
27
Factors of biological risk and reserve associated with executive behaviors in children and adolescents with spina bifida myelomeningocele. (18306076)
2008
28
Surgical treatment of calcaneal deformity in a select group of patients with myelomeningocele. (18829913)
2008
29
Salvage of a complicated myelomeningocele using collagen (Duragen) and dermal (Alloderm) matrix substitutes. Case report and review of the literature. (17992043)
2007
30
Myelomeningocele: long-term neurosurgical treatment and follow-up in 202 patients. (18459900)
2007
31
Structural and functional characterization of bladder smooth muscle in fetal rats with retinoic acid-induced myelomeningocele. (16940565)
2007
32
Does surgical release of secondary spinal cord tethering improve the prognosis of neurogenic bladder in children with myelomeningocele? (16952698)
2006
33
Upper and lower urinary tract evaluation of 104 patients with myelomeningocele without adequate urological management. (16758253)
2006
34
Influence of family environment on language outcomes in children with myelomeningocele. (16101655)
2005
35
Retrospective review of L3 myelomeningocele in three age groups: should posterolateral iliopsoas transfer still be indicated to stabilize the hip? (15812288)
2005
36
Amniotic fluid brain-specific proteins are biomarkers for spinal cord injury in experimental myelomeningocele. (16190875)
2005
37
Anterior thoracic myelomeningocele presenting as a retromediastinal mass. Case report. (16122010)
2005
38
Medical, functional, and social determinants of health-related quality of life in individuals with myelomeningocele. (16138668)
2005
39
Myelomeningocele in young adults. (15667645)
2005
40
Long-term survival of individuals with myelomeningocele. (16088253)
2005
41
Prenatal intervention for urinary obstruction and myelomeningocele. (15707516)
2004
42
Embryology of myelomeningocele and anencephaly. (15209484)
2004
43
Myelomeningocele and female sexuality: an issue? (15363553)
2004
44
Kyphectomy in children with myelomeningocele: a long-term outcome study. (14676532)
2004
45
Control of reaching movements in children and young adults with myelomeningocele. (14974644)
2004
46
Double myelomeningocele: case report and review. (12859934)
2003
47
Renal size and function in patients with neuropathic bladder due to myelomeningocele: the role of growth hormone. (14532832)
2003
48
Efficacy of botulinum-A toxin in children with detrusor hyperreflexia due to myelomeningocele: preliminary results. (14558555)
2003
49
Gestational age at intrauterine myelomeningocele repair does not influence the risk of prematurity. (11844907)
2002
50
Body composition of children with myelomeningocele, determined by 40K, urinary creatinine and anthropometric measures. (12038474)
1999

Genetic Variations for Myelomeningocele

Expression for genes affiliated with Myelomeningocele

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myelomeningocele

Search GEO for disease gene expression data for Myelomeningocele.

Pathways for genes affiliated with Myelomeningocele

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome, 12EMD Millipore, 50PharmGKB
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Compounds for genes affiliated with Myelomeningocele

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
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Compounds related to Myelomeningocele according to GeneCards/GeneDecks:

(show top 50)    (show all 147)
idCompoundScoreTop Affiliating Genes
1dehydroepiandrosterone sulfate4510.3GNRH1, IGFBP3
2tamoxifen45 50 29 1113.2GNRH1, IGF1
3estrogen459.9TRH
4b vitamins459.9CBS, MTRR, MTHFR, MTR
5methylcobalamin45 2410.9MTRR, MTHFR, CBS, MTR
65-methyltetrahydrofolate45 1110.9MTHFR, MTRR, CBS, MTR
75,10-methenyltetrahydrofolate459.9CBS, MTHFR, MTHFD1, MTR
8betaine45 2410.9MTRR, MTHFR, MTR, CBS
9methylmalonic acid45 2410.9MTRR, MTHFR, MTR, CBS
10glutamate459.8GNRH1, TRH
11cystathionine459.7MTHFR, MTHFD1, MTRR, CBS, MTR
12cobalamin45 2410.7MTHFR, MTRR, MTHFD1, CBS, MTR
13alpha tocopherol459.6SOD2, BGLAP, IGFBP3
14vitamin b6459.5CBS, MTR, MTHFD1, MTHFR
15buserelin45 29 1111.5PRL, IGFBP3, GNRH1, IGF1
16clomiphene citrate459.4IGFBP3, GNRH1, PRL, IGF1
17naltrexone45 50 29 1112.4PRL, IGFBP3, GNRH1, IGF1
18thymidylate459.4MTR, MTHFR, MTHFD1, MTRR, CBS
19dihydrotestosterone45 29 11 2412.4LEP, GNRH1, BGLAP, PRL
20cabergoline29 45 1111.3GNRH1, PRL, IGFBP3, IGF1
21estradiol45 11 2411.3TRH, PRL, GNRH1
22homocysteine45 2410.3MTR, MTHFD1, MTRR, MTHFR, CBS
23vitamin b12459.2IGFBP3, MTHFR, MTRR, CBS, IGF1, MTR
24aspartate459.1MTR, IGFBP3, MTRR, GNRH1
25androstenedione45 2410.0IGFBP3, GNRH1, IGF1, LEP, PRL
26gnrh459.0TRH, IGFBP3, GNRH1, BGLAP
27betacarotene458.9SOD2, SOD1, MTHFR, IGFBP3, LEP
28ghrp458.9PRL, IGFBP3, IGF1, TRH
29fenfluramine29 45 1110.9LEP, TRH, PRL, IGFBP3
30pyridostigmine45 119.9IGFBP3, TRH, IGF1, PRL
31folate458.9MTHFR, IGFBP3, SOD2, MTHFD1, MTRR, CBS
32estrone sulfate45 249.9BGLAP, IGFBP3, IGF1, PRL
33menadione45 11 2410.7BGLAP, SOD2, SOD1, MTHFR, IGF1
34estrone45 29 11 2411.7GNRH1, IGFBP3, LEP, IGF1, PRL, BGLAP
35octreotide45 60 29 1111.6PRL, IGF1, TRH, GNRH1, IGFBP3
36dexamethasone45 50 29 1111.6TRH, SOD2, GNRH1, BGLAP
37methotrexate45 50 1110.6MTRR, CBS, IGFBP3, MTR, MTHFR, MTHFD1
38creatinine458.5IGFBP3, SOD1, GNRH1, BGLAP, IGF1, LEP
39triiodothyronine458.5PRL, IGF1, TRH, LEP, IGFBP3
40cysteine458.5SOD2, PAX3, LEP, CBS, MTR, MTHFR
41levodopa45 119.3SOD1, MTHFR, TRH, PRL, IGF1
42bromocriptine29 45 1110.3TRH, GNRH1, SOD2, PRL, IGF1, IGFBP3
43acth458.3GNRH1, PRL, IGFBP3, IGF1, TRH, LEP
44clonidine45 29 1110.1BGLAP, PRL, IGFBP3, TRH, IGF1, LEP
45dopamine45 29 11 2411.1IGF1, SOD2, GNRH1, TPPP3, TRH
46ascorbic acid45 249.0LEP, BGLAP, SOD2, SOD1, MTHFR, IGFBP3
47cisplatin45 50 60 1110.9SOD2, LEP, IGFBP3, MTR, MTHFR, SOD1
48thyroxine45 248.9LEP, IGF1, IGFBP3, TRH, BGLAP, GNRH1
49testosterone45 60 11 2410.2IGFBP3, BGLAP, MTHFR, IGF1, TRH, LEP
50arginine456.7CBS, PRL, SOD1, SOD2, LEP, GNRH1

GO Terms for genes affiliated with Myelomeningocele

Sources:
16Gene Ontology
See all sources

Cellular components related to Myelomeningocele according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:0169429.4IGF1, IGFBP3
2extracellular spaceGO:0056158.1IGF1, IGFBP3, SOD1, GNRH1, BGLAP, LEP
3extracellular regionGO:0055766.8LEP, TRH, IGF1, IGFBP3, PRL, SOD1

Biological processes related to Myelomeningocele according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:05066710.3MTHFR, CBS
2tetrahydrofolate interconversionGO:03599910.2MTHFR, MTHFD1
3folic acid metabolic processGO:04665510.1MTHFR, MTHFD1
4methionine biosynthetic processGO:00908610.1MTHFR, MTHFD1, MTRR
5sulfur amino acid metabolic processGO:00009610.1MTR, CBS, MTRR
6ovulation cycleGO:04269810.1PRL, GNRH1
7bone mineralization involved in bone maturationGO:03563010.0LEP, IGF1
8methylationGO:0322599.8MTR, MTRR
9water-soluble vitamin metabolic processGO:0067679.8MTR, MTHFR, MTHFD1, MTRR
10response to superoxideGO:0003039.8SOD1, SOD2
11vitamin metabolic processGO:0067669.8MTHFR, MTHFD1, MTR, MTRR
12positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.7IGFBP3, IGF1
13hydrogen peroxide biosynthetic processGO:0506659.7SOD1, SOD2
14female pregnancyGO:0075659.7GNRH1, PRL, LEP
15positive regulation of MAPK cascadeGO:0434109.7IGF1, IGFBP3, LEP
16superoxide metabolic processGO:0068019.6SOD1, SOD2, CBS
17removal of superoxide radicalsGO:0194309.6SOD1, SOD2
18regulation of mitochondrial membrane potentialGO:0518819.5SOD1, SOD2
19regulation of multicellular organism growthGO:0400149.5IGF1, PRL, SOD1
20regulation of blood pressureGO:0082179.4SOD2, SOD1, LEP
21superoxide anion generationGO:0425549.2SOD2, SOD1
22response to drugGO:0424938.7PRL, SOD2, SOD1, BGLAP
23response to ethanolGO:0454718.3BGLAP, TRH, PRL, SOD1, GNRH1

Molecular functions related to Myelomeningocele according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:07234110.1CBS, MTHFR
2superoxide dismutase activityGO:0047849.2SOD1, SOD2
3hormone activityGO:0051799.0LEP, IGF1, PRL, GNRH1

Products for genes affiliated with Myelomeningocele

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Sources for Myelomeningocele

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet