MCID: MYL020
MIFTS: 47

Myelomeningocele malady

Neuronal diseases, Fetal diseases categories

Summaries for Myelomeningocele

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42NIH Rare Diseases, 3CDC, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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, spinal cord and bone, 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:63 Spina bifida (Latin: \"split spine\") is a developmental congenital disorder caused by the incomplete... more...

Aliases & Classifications for Myelomeningocele

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42NIH Rare Diseases, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Related Diseases for Myelomeningocele

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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 269)
idRelated DiseaseScoreTop Affiliating Genes
1spina bifida30.8CBS, MTR, MTHFR, MTHFD1, MTRR, PAX3
2neural tube defects30.0PAX3, MTRR, MTHFD1, MTHFR, CBS, MTR
3obesity29.9SOD2, CBS, LEP, TRH, IGF1, IGFBP3
4hyperhomocysteinemia29.8MTRR, MTHFR, MTR, CBS, SOD1
5cryptorchidism29.7GNRH1
6multiple sclerosis29.7TPPP3, MTR
7parkinson's disease29.7MTR, SOD1, SOD2, TPPP3
8hydrocephalus10.5
9neurogenic bladder10.4
10cervicitis10.4
11imperforate anus10.3
12renal agenesis meningomyelocele mullerian defect10.2
13neurogenic bowel10.2
14cerebritis10.2
15syringomyelia10.1
16meningocele10.1
17constipation10.1
18chiari malformation type 210.1
19renal agenesis10.1
20cystic teratoma10.1
21urethritis10.0
22choroiditis10.0
23focal dermal hypoplasia10.0
24tethered spinal cord syndrome10.0
25clubfoot10.0
26strabismus10.0
27anencephaly10.0MTHFR
28acute myocardial infarction10.0CBS
29migraine10.0MTHFR
30thyrotoxicosis10.0TRH
31retinal detachment10.0CBS
32mccune albright syndrome10.0GNRH1
33acute leukemia10.0MTHFR
34thyroiditis10.0TRH
35endogenous depression10.0TRH
36endometriosis10.0GNRH1
37prostatic hypertrophy10.0GNRH1
38eclampsia10.0MTHFR
39sensorineural hearing loss10.0PAX3
40panic disorder10.0TRH
41placental abruption10.0MTHFR
42retinal vein occlusion10.0MTHFR
43graves' disease10.0BGLAP
44pseudohypoparathyroidism10.0BGLAP
45hyperparathyroidism10.0BGLAP
46hyperostosis10.0BGLAP
47ovarian hyperstimulation syndrome10.0GNRH1
48melancholia10.0TRH
49uterine fibroid10.0GNRH1
50megaloblastic anemia10.0MTR

Graphical network of the top 20 diseases related to Myelomeningocele:



Diseases related to myelomeningocele

Clinical Features for Myelomeningocele

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Drugs & Therapeutics for Myelomeningocele

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Genetic Tests for Myelomeningocele

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Anatomical Context for Myelomeningocele

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32MalaCards
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MalaCards organs/tissues related to Myelomeningocele:

32
Brain, Spinal cord, Bone

Animal Models for Myelomeningocele or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Myelomeningocele:

36 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.3CBS, PAX3
2MP:00053719.9CBS, VANGL1, PAX3
3MP:00053779.7PAX3, VANGL1
4MP:00053679.6PAX3, CBS, SOD2
5MP:00107719.5PAX3, CBS, SOD2, GNRH1
6MP:00020069.5GNRH1, IGF1, PAX3
7MP:00053899.2GNRH1, SOD2, MTHFR, PRL, CBS
8MP:00053698.5SOD1, IGFBP3, IGF1, CBS, LEP, PAX3
9MP:00053708.2GNRH1, SOD2, SOD1, PRL, IGFBP3, CBS
10MP:00107687.1SOD2, SOD1, MTHFD1, MTHFR, MTR, PRICKLE1
11MP:00053786.7MTHFR, MTHFD1, MTRR, SOD2, GNRH1, IGFBP3
12MP:00036316.6GNRH1, SOD2, SOD1, MTHFR, PRL, PRICKLE1
13MP:00053765.8PAX3, GNRH1, SOD2, SOD1, MTRR, MTHFD1

Publications for Myelomeningocele

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Genetic Variations for Myelomeningocele

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Expression for genes affiliated with Myelomeningocele

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

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Pathways for genes affiliated with Myelomeningocele

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37NCBI BioSystems Database, 29KEGG, 53Reactome, 12EMD Millipore, 49PharmGKB
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Compounds for genes affiliated with Myelomeningocele

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Myelomeningocele according to GeneCards/GeneDecks:

(show top 50)    (show all 147)
idCompoundScoreTop Affiliating Genes
1dehydroepiandrosterone sulfate4410.3GNRH1, IGFBP3
2tamoxifen44 49 28 1113.2GNRH1, IGF1
3estrogen449.9TRH
4b vitamins449.9CBS, MTRR, MTHFR, MTR
5methylcobalamin44 2410.9MTRR, MTHFR, CBS, MTR
65-methyltetrahydrofolate44 1110.9MTHFR, MTRR, CBS, MTR
75,10-methenyltetrahydrofolate449.9CBS, MTHFR, MTHFD1, MTR
8betaine44 2410.9MTRR, MTHFR, MTR, CBS
9methylmalonic acid44 2410.9MTRR, MTHFR, MTR, CBS
10glutamate449.8GNRH1, TRH
11cystathionine449.7MTHFR, MTHFD1, MTRR, CBS, MTR
12cobalamin44 2410.7MTHFR, MTRR, MTHFD1, CBS, MTR
13alpha tocopherol449.6SOD2, BGLAP, IGFBP3
14vitamin b6449.5CBS, MTR, MTHFD1, MTHFR
15buserelin44 28 1111.5PRL, IGFBP3, GNRH1, IGF1
16clomiphene citrate449.4IGFBP3, GNRH1, PRL, IGF1
17naltrexone44 49 28 1112.4PRL, IGFBP3, GNRH1, IGF1
18thymidylate449.4MTR, MTHFR, MTHFD1, MTRR, CBS
19dihydrotestosterone44 28 11 2412.4LEP, GNRH1, BGLAP, PRL
20cabergoline28 44 1111.3GNRH1, PRL, IGFBP3, IGF1
21estradiol44 11 2411.3TRH, PRL, GNRH1
22homocysteine44 2410.3MTR, MTHFD1, MTRR, MTHFR, CBS
23vitamin b12449.2IGFBP3, MTHFR, MTRR, CBS, IGF1, MTR
24aspartate449.1MTR, IGFBP3, MTRR, GNRH1
25androstenedione44 2410.0IGFBP3, GNRH1, IGF1, LEP, PRL
26gnrh449.0TRH, IGFBP3, GNRH1, BGLAP
27betacarotene448.9SOD2, SOD1, MTHFR, IGFBP3, LEP
28ghrp448.9PRL, IGFBP3, IGF1, TRH
29fenfluramine28 44 1110.9LEP, TRH, PRL, IGFBP3
30pyridostigmine44 119.9IGFBP3, TRH, IGF1, PRL
31folate448.9MTHFR, IGFBP3, SOD2, MTHFD1, MTRR, CBS
32estrone sulfate44 249.9BGLAP, IGFBP3, IGF1, PRL
33menadione44 11 2410.7BGLAP, SOD2, SOD1, MTHFR, IGF1
34estrone44 28 11 2411.7GNRH1, IGFBP3, LEP, IGF1, PRL, BGLAP
35octreotide44 59 28 1111.6PRL, IGF1, TRH, GNRH1, IGFBP3
36dexamethasone44 49 28 1111.6TRH, SOD2, GNRH1, BGLAP
37methotrexate44 49 1110.6MTRR, CBS, IGFBP3, MTR, MTHFR, MTHFD1
38creatinine448.5IGFBP3, SOD1, GNRH1, BGLAP, IGF1, LEP
39triiodothyronine448.5PRL, IGF1, TRH, LEP, IGFBP3
40cysteine448.5SOD2, PAX3, LEP, CBS, MTR, MTHFR
41levodopa44 119.3SOD1, MTHFR, TRH, PRL, IGF1
42bromocriptine28 44 1110.3TRH, GNRH1, SOD2, PRL, IGF1, IGFBP3
43acth448.3GNRH1, PRL, IGFBP3, IGF1, TRH, LEP
44clonidine44 28 1110.1BGLAP, PRL, IGFBP3, TRH, IGF1, LEP
45dopamine44 28 11 2411.1IGF1, SOD2, GNRH1, TPPP3, TRH
46ascorbic acid44 249.0LEP, BGLAP, SOD2, SOD1, MTHFR, IGFBP3
47cisplatin44 49 59 1110.9SOD2, LEP, IGFBP3, MTR, MTHFR, SOD1
48thyroxine44 248.9LEP, IGF1, IGFBP3, TRH, BGLAP, GNRH1
49testosterone44 59 11 2410.2IGFBP3, BGLAP, MTHFR, IGF1, TRH, LEP
50arginine446.7CBS, PRL, SOD1, SOD2, LEP, GNRH1

GO Terms for genes affiliated with Myelomeningocele

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16Gene Ontology
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Cellular components related to Myelomeningocele according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:0169429.4IGFBP3, IGF1
2extracellular spaceGO:0056158.1LEP, IGF1, IGFBP3, SOD1, GNRH1, BGLAP
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:05066710.3CBS, MTHFR
2tetrahydrofolate interconversionGO:03599910.2MTHFR, MTHFD1
3folic acid metabolic processGO:04665510.2MTHFD1, MTHFR
4methionine biosynthetic processGO:00908610.1MTRR, MTHFD1, MTHFR
5sulfur amino acid metabolic processGO:00009610.1MTRR, MTR, CBS
6ovulation cycleGO:04269810.1GNRH1, PRL
7bone mineralization involved in bone maturationGO:03563010.0LEP, IGF1
8methylationGO:0322599.8MTR, MTRR
9water-soluble vitamin metabolic processGO:0067679.8MTRR, MTHFD1, MTHFR, MTR
10response to superoxideGO:0003039.8SOD1, SOD2
11vitamin metabolic processGO:0067669.8MTRR, MTHFD1, MTHFR, MTR
12positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.7IGFBP3, IGF1
13hydrogen peroxide biosynthetic processGO:0506659.7SOD2, SOD1
14positive regulation of MAPK cascadeGO:0434109.7LEP, IGF1, IGFBP3
15female pregnancyGO:0075659.7GNRH1, PRL, LEP
16superoxide metabolic processGO:0068019.6CBS, SOD1, SOD2
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:0425549.2SOD1, SOD2
22response to drugGO:0424938.7PRL, SOD1, SOD2, BGLAP
23response to ethanolGO:0454718.3TRH, PRL, SOD1, GNRH1, BGLAP

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet