eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	myelocystocele

Disease ID	1136
Disease	myelocystocele
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 (disorder) myelocystocele nos myelocystocele nos (disorder) myelocystocele of unspecified site myelocystocele of unspecified site (disorder) myelomeningocele myelomeningoceles spina bifida cystica
Orphanet	ORPHANET:268744 ORPHANET:268813 ORPHANET:93969
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:16) C0080178 \| spina bifida \| 7 C0020255 \| hydrocephalus \| 6 C0005697 \| neurogenic bladder \| 5 C0022821 \| kyphosis \| 4 C0036439 \| scoliosis \| 2 C0038379 \| strabismus \| 2 C0016395 \| focal dermal hypoplasia \| 1 C0037315 \| sleep apnea \| 1 C0028754 \| obesity \| 1 C0025299 \| meningocele \| 1 C0009806 \| constipation \| 1 C0039144 \| syringomyelia \| 1 C1368910 \| mature teratoma \| 1 C0037315 \| sleep-disordered breathing \| 1 C0030486 \| paraplegia \| 1 C0005697 \| neuropathic bladder \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 4524 \| MTHFR \| CTD_human 2670 \| GFAP \| CTD_human 6647 \| SOD1 \| CTD_human 6648 \| SOD2 \| CTD_human 8854 \| ALDH1A2 \| CTD_human 1139 \| CHRNA7 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:12) 2348 \| FOLR1 \| CIPHER 2350 \| FOLR2 \| CIPHER 2352 \| FOLR3 \| CIPHER 4524 \| MTHFR \| CIPHER;CTD_human 6573 \| SLC19A1 \| CIPHER 338 \| APOB \| CIPHER 348 \| APOE \| CIPHER 8854 \| ALDH1A2 \| CTD_human 1139 \| CHRNA7 \| CTD_human 6648 \| SOD2 \| CTD_human 6647 \| SOD1 \| CTD_human 2670 \| GFAP \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:73) 174 \| AFP \| 2.753 \| DISEASES 1645 \| AKR1C1 \| 1.237 \| DISEASES 250 \| ALPP \| 1.839 \| DISEASES 257 \| ALX3 \| 1.658 \| DISEASES 10620 \| ARID3B \| 2.901 \| DISEASES 57412 \| AS3MT \| 2.824 \| DISEASES 64115 \| C10orf54 \| 1.475 \| DISEASES 765 \| CA6 \| 2.558 \| DISEASES 766 \| CA7 \| 1.573 \| DISEASES 875 \| CBS \| 2.204 \| DISEASES 10370 \| CITED2 \| 1.949 \| DISEASES 594855 \| CPLX3 \| 3.259 \| DISEASES 1382 \| CRABP2 \| 1.776 \| DISEASES 1471 \| CST3 \| 1.136 \| DISEASES 51339 \| DACT1 \| 2.503 \| DISEASES 8788 \| DLK1 \| 1.379 \| DISEASES 1759 \| DNM1 \| 1.749 \| DISEASES 2048 \| EPHB2 \| 1.571 \| DISEASES 54821 \| ERCC6L \| 2.307 \| DISEASES 2116 \| ETV2 \| 3.181 \| DISEASES 346007 \| EYS \| 2.316 \| DISEASES 2526 \| FUT4 \| 1.358 \| DISEASES 8323 \| FZD6 \| 2.407 \| DISEASES 2674 \| GFRA1 \| 1.797 \| DISEASES 2731 \| GLDC \| 2.208 \| DISEASES 2262 \| GPC5 \| 2.249 \| DISEASES 10082 \| GPC6 \| 2.654 \| DISEASES 84667 \| HES7 \| 2.792 \| DISEASES 3486 \| IGFBP3 \| 1.617 \| DISEASES 9445 \| ITM2B \| 1.482 \| DISEASES 3704 \| ITPA \| 1.503 \| DISEASES 3980 \| LIG3 \| 2.255 \| DISEASES 440900 \| LINC01191 \| 1.745 \| DISEASES 81562 \| LMAN2L \| 1.191 \| DISEASES 4081 \| MAB21L1 \| 3.709 \| DISEASES 4082 \| MARCKS \| 1.722 \| DISEASES 65108 \| MARCKSL1 \| 2.947 \| DISEASES 4140 \| MARK3 \| 2.681 \| DISEASES 83881 \| MIXL1 \| 1.816 \| DISEASES 4522 \| MTHFD1 \| 1.912 \| DISEASES 4524 \| MTHFR \| 3.314 \| DISEASES 4548 \| MTR \| 1.355 \| DISEASES 4739 \| NEDD9 \| 2.61 \| DISEASES 4803 \| NGF \| 1.51 \| DISEASES 9241 \| NOG \| 1.096 \| DISEASES 4926 \| NUMA1 \| 1.214 \| DISEASES 10215 \| OLIG2 \| 1.336 \| DISEASES 103752588 \| PACERR \| 1.857 \| DISEASES 5076 \| PAX2 \| 1.048 \| DISEASES 5077 \| PAX3 \| 3.202 \| DISEASES 8399 \| PLA2G10 \| 1.386 \| DISEASES 5320 \| PLA2G2A \| 1.119 \| DISEASES 144165 \| PRICKLE1 \| 2.69 \| DISEASES 5764 \| PTN \| 1.389 \| DISEASES 5802 \| PTPRS \| 2.539 \| DISEASES 26150 \| RIBC2 \| 3.161 \| DISEASES 23322 \| RPGRIP1L \| 1.957 \| DISEASES 6152 \| RPL24 \| 1.569 \| DISEASES 6164 \| RPL34 \| 3.628 \| DISEASES 862 \| RUNX1T1 \| 1.269 \| DISEASES 23513 \| SCRIB \| 2.626 \| DISEASES 30011 \| SH3KBP1 \| 2.632 \| DISEASES 25942 \| SIN3A \| 2.298 \| DISEASES 6513 \| SLC2A1 \| 1.258 \| DISEASES 144195 \| SLC2A14 \| 1.303 \| DISEASES 6648 \| SOD2 \| 1.082 \| DISEASES 6656 \| SOX1 \| 1.909 \| DISEASES 6657 \| SOX2 \| 2.618 \| DISEASES 6430 \| SRSF5 \| 2.549 \| DISEASES 64220 \| STRA6 \| 2.254 \| DISEASES 6949 \| TCOF1 \| 2.347 \| DISEASES 57216 \| VANGL2 \| 2.052 \| DISEASES 376940 \| ZC3H6 \| 4.956 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1136
Disease	myelocystocele
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:31) HP:0000238 \| Nonsyndromal hydrocephalus \| 8 HP:0002414 \| Spina bifida \| 7 HP:0002808 \| Gibbus deformity \| 5 HP:0000011 \| Neurogenic bladder \| 5 HP:0000486 \| Squint eyes \| 2 HP:0002650 \| Scoliosis \| 2 HP:0002084 \| Bifid skull \| 2 HP:0008454 \| Rounded lower back \| 2 HP:0002308 \| Chiari malformation \| 2 HP:0002144 \| Occult spinal dysraphism \| 1 HP:0004383 \| Underdeveloped left heart \| 1 HP:0100806 \| Sepsis \| 1 HP:0001371 \| Flexion contractures of joints \| 1 HP:0000752 \| Hyperactive behavior \| 1 HP:0001762 \| Talipes equinovarus \| 1 HP:0007330 \| Frontal encephalocele \| 1 HP:0001945 \| Fever \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0006380 \| Contractures of knees \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0030770 \| Craniorachischisis \| 1 HP:0001627 \| Congenital heart defects \| 1 HP:0003470 \| Inability to move \| 1 HP:0000020 \| Bladder incontinence \| 1 HP:0002085 \| Occipital encephalocele \| 1 HP:0010307 \| Stridor \| 1 HP:0001513 \| Obesity \| 1 HP:0003396 \| Syringomyelia \| 1 HP:0002019 \| Dyschezia \| 1 HP:0002435 \| Meningocele \| 1 HP:0010550 \| Paraplegia \| 1

Disease ID	1136
Disease	myelocystocele
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

Text Mining Genotype(Total 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.)

Disease ID	1136
Disease	myelocystocele
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter