PedAM

Pediatric Disease Annotations & Medicines


	myelomeningocele

Disease ID	855
Disease	myelomeningocele
Definition	Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)
Synonym	meningomyelocele meningomyelocele (disorder) meningomyelocele [disease/finding] meningomyelocele nos meningomyelocele nos (disorder) meningomyelocele of unspecified site meningomyelocele of unspecified site (disorder) meningomyeloceles myelocystocele myelocystocele (disorder) myelocystocele nos myelocystocele nos (disorder) myelocystocele of unspecified site myelocystocele of unspecified site (disorder) myelomeningoceles spina bifida cystica
Orphanet	ORPHANET:93969 ORPHANET:268744 ORPHANET:268813
DOID	DOID:0060326
UMLS	C0025312
MeSH	D008591 D016137
SNOMED-CT	SNOMEDCT_US_2016_09_01:414667000;SNOMEDCT_US_2016_09_01:203994003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:18) C0020255 \| hydrocephalus \| 7 C0005697 \| neurogenic bladder \| 7 C0022821 \| kyphosis \| 4 C0080178 \| spina bifida \| 4 C0036439 \| scoliosis \| 2 C0038379 \| strabismus \| 2 C0152101 \| hypoplastic left heart \| 1 C0016395 \| focal dermal hypoplasia \| 1 C0009806 \| constipation \| 1 C0005697 \| neuropathic bladder \| 1 C0039128 \| syphilis \| 1 C0023343 \| leprosy \| 1 C0037315 \| sleep-disordered breathing \| 1 C0037315 \| sleep apnea \| 1 C0025299 \| meningocele \| 1 C0028754 \| obesity \| 1 C0030486 \| paraplegia \| 1 C0152101 \| hypoplastic left heart syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) SOD1 \| 6647 \| CTD_human SOD2 \| 6648 \| CTD_human MTHFR \| 4524 \| CTD_human ALDH1A2 \| 8854 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 2348 \| FOLR1 \| infer 2350 \| FOLR2 \| infer 2352 \| FOLR3 \| infer 4524 \| MTHFR \| infer 6573 \| SLC19A1 \| infer 338 \| APOB \| infer 348 \| APOE \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:144) 56603 \| CYP26B1 \| DISEASES 608 \| TNFRSF17 \| DISEASES 6515 \| SLC2A3 \| DISEASES 9319 \| TRIP13 \| DISEASES 1738 \| DLD \| DISEASES 6948 \| TCN2 \| DISEASES 7443 \| VRK1 \| DISEASES 4741 \| NEFM \| DISEASES 1592 \| CYP26A1 \| DISEASES 2648 \| KAT2A \| DISEASES 5754 \| PTK7 \| DISEASES 3215 \| HOXB5 \| DISEASES 7291 \| TWIST1 \| DISEASES 8854 \| ALDH1A2 \| DISEASES 3110 \| MNX1 \| DISEASES 2670 \| GFAP \| DISEASES 23135 \| KDM6B \| DISEASES 6616 \| SNAP25 \| DISEASES 57498 \| KIDINS220 \| DISEASES 6426 \| SRSF1 \| DISEASES 5460 \| POU5F1 \| DISEASES 6496 \| SIX3 \| DISEASES 23314 \| SATB2 \| DISEASES 8482 \| SEMA7A \| DISEASES 4223 \| MEOX2 \| DISEASES 1387 \| CREBBP \| DISEASES 9620 \| CELSR1 \| DISEASES 7290 \| HIRA \| DISEASES 6855 \| SYP \| DISEASES 8850 \| KAT2B \| DISEASES 7379 \| UPK2 \| DISEASES 2247 \| FGF2 \| DISEASES 4552 \| MTRR \| DISEASES 5286 \| PIK3C2A \| DISEASES 597 \| BCL2A1 \| DISEASES 1583 \| CYP11A1 \| DISEASES 150094 \| SIK1 \| DISEASES 275 \| AMT \| DISEASES 635 \| BHMT \| DISEASES 2796 \| GNRH1 \| DISEASES 170692 \| ADAMTS18 \| DISEASES 4838 \| NODAL \| DISEASES 57822 \| GRHL3 \| DISEASES 8566 \| PDXK \| DISEASES 8320 \| EOMES \| DISEASES 57619 \| SHROOM3 \| DISEASES 6862 \| T \| DISEASES 168667 \| BMPER \| DISEASES 6469 \| SHH \| DISEASES 115825 \| WDFY2 \| DISEASES 2350 \| FOLR2 \| DISEASES 717 \| C2 \| DISEASES 1381 \| CRABP1 \| DISEASES 6866 \| TAC3 \| DISEASES 29123 \| ANKRD11 \| DISEASES 79058 \| ASPSCR1 \| DISEASES 54360 \| CYTL1 \| DISEASES 4968 \| OGG1 \| DISEASES 5002 \| SLC22A18 \| DISEASES 2348 \| FOLR1 \| DISEASES 6573 \| SLC19A1 \| DISEASES 81839 \| VANGL1 \| DISEASES 4744 \| NEFH \| DISEASES 196883 \| ADCY4 \| DISEASES 80199 \| FUZ \| DISEASES 57101 \| ANO2 \| DISEASES 767 \| CA8 \| DISEASES 79966 \| SCD5 \| DISEASES 4026 \| LPP \| DISEASES 6470 \| SHMT1 \| DISEASES 2653 \| GCSH \| DISEASES 6657 \| SOX2 \| DISEASES 9241 \| NOG \| DISEASES 6656 \| SOX1 \| DISEASES 10215 \| OLIG2 \| DISEASES 54821 \| ERCC6L \| DISEASES 51339 \| DACT1 \| DISEASES 8788 \| DLK1 \| DISEASES 5764 \| PTN \| DISEASES 10620 \| ARID3B \| DISEASES 875 \| CBS \| DISEASES 144165 \| PRICKLE1 \| DISEASES 766 \| CA7 \| DISEASES 23513 \| SCRIB \| DISEASES 5802 \| PTPRS \| DISEASES 2526 \| FUT4 \| DISEASES 8323 \| FZD6 \| DISEASES 25942 \| SIN3A \| DISEASES 4548 \| MTR \| DISEASES 83881 \| MIXL1 \| DISEASES 6648 \| SOD2 \| DISEASES 10370 \| CITED2 \| DISEASES 57216 \| VANGL2 \| DISEASES 1382 \| CRABP2 \| DISEASES 4082 \| MARCKS \| DISEASES 4803 \| NGF \| DISEASES 257 \| ALX3 \| DISEASES 57412 \| AS3MT \| DISEASES 1759 \| DNM1 \| DISEASES 65108 \| MARCKSL1 \| DISEASES 2048 \| EPHB2 \| DISEASES 5320 \| PLA2G2A \| DISEASES 4524 \| MTHFR \| DISEASES 1471 \| CST3 \| DISEASES 10082 \| GPC6 \| DISEASES 2262 \| GPC5 \| DISEASES 81562 \| LMAN2L \| DISEASES 765 \| CA6 \| DISEASES 3980 \| LIG3 \| DISEASES 9445 \| ITM2B \| DISEASES 4739 \| NEDD9 \| DISEASES 4081 \| MAB21L1 \| DISEASES 23322 \| RPGRIP1L \| DISEASES 3704 \| ITPA \| DISEASES 1645 \| AKR1C1 \| DISEASES 3486 \| IGFBP3 \| DISEASES 2731 \| GLDC \| DISEASES 250 \| ALPP \| DISEASES 5077 \| PAX3 \| DISEASES 4926 \| NUMA1 \| DISEASES 6152 \| RPL24 \| DISEASES 6430 \| SRSF5 \| DISEASES 6164 \| RPL34 \| DISEASES 64115 \| C10orf54 \| DISEASES 594855 \| CPLX3 \| DISEASES 174 \| AFP \| DISEASES 144195 \| SLC2A14 \| DISEASES 30011 \| SH3KBP1 \| DISEASES 2116 \| ETV2 \| DISEASES 376940 \| ZC3H6 \| DISEASES 2674 \| GFRA1 \| DISEASES 8399 \| PLA2G10 \| DISEASES 5076 \| PAX2 \| DISEASES 862 \| RUNX1T1 \| DISEASES 4140 \| MARK3 \| DISEASES 6513 \| SLC2A1 \| DISEASES 6949 \| TCOF1 \| DISEASES 346007 \| EYS \| DISEASES 26150 \| RIBC2 \| DISEASES 84667 \| HES7 \| DISEASES 4522 \| MTHFD1 \| DISEASES 64220 \| STRA6 \| DISEASES 440900 \| LINC01191 \| DISEASES 103752588 \| PACERR \| DISEASES
Locus	(Waiting for update.)

Disease ID	855
Disease	myelomeningocele
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:27) HP:0000011 \| Neurogenic bladder \| 7 HP:0000238 \| Nonsyndromal hydrocephalus \| 7 HP:0002808 \| Gibbus deformity \| 5 HP:0002414 \| Spina bifida \| 4 HP:0002650 \| Scoliosis \| 2 HP:0008454 \| Rounded lower back \| 2 HP:0000486 \| Squint eyes \| 2 HP:0002435 \| Meningocele \| 1 HP:0006380 \| Contractures of knees \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0000752 \| Hyperactive behavior \| 1 HP:0004383 \| Underdeveloped left heart \| 1 HP:0003470 \| Inability to move \| 1 HP:0100806 \| Sepsis \| 1 HP:0002084 \| Bifid skull \| 1 HP:0001627 \| Congenital heart defects \| 1 HP:0000020 \| Bladder incontinence \| 1 HP:0030770 \| Craniorachischisis \| 1 HP:0001513 \| Obesity \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0010307 \| Stridor \| 1 HP:0010550 \| Paraplegia \| 1 HP:0001945 \| Fever \| 1 HP:0007330 \| Frontal encephalocele \| 1 HP:0001371 \| Flexion contractures of joints \| 1 HP:0002144 \| Occult spinal dysraphism \| 1 HP:0002019 \| Dyschezia \| 1

Disease ID	855
Disease	myelomeningocele
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs4846049	23227261	4524	MTHFR	umls:C0025312	BeFree	In addition, we also show a positive association between the SNP rs4846049 in the 3'-untranslated region of the MTHFR gene and the attention-deficit hyperactivity disorder phenotype in myelomeningocele participants.	0.125819831	2012	MTHFR	1	11790308	T	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:7)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0025312	tretinoin	D014212	302-79-4	meningomyelocele	MESH:D008591	marker/mechanism	15893307
C0025312	valproic acid	D014635	99-66-1	meningomyelocele	MESH:D008591	marker/mechanism	12237071
C0025312	choline	D002794	62-49-7	spina bifida cystica	MESH:D016137	therapeutic	22473653
C0025312	nicotine	D009538	-	spina bifida cystica	MESH:D016137	marker/mechanism	22473653
C0025312	tretinoin	D014212	302-79-4	spina bifida cystica	MESH:D016137	marker/mechanism	1440416
C0025312	valproic acid	D014635	99-66-1	spina bifida cystica	MESH:D016137	marker/mechanism	1283633
C0025312	vitamin a	D014801	11103-57-4	spina bifida cystica	MESH:D016137	marker/mechanism	8422324

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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