MCID: SPN221
MIFTS: 36

Spina Bifida Occulta

Categories: Rare diseases

Aliases & Classifications for Spina Bifida Occulta

MalaCards integrated aliases for Spina Bifida Occulta:

Name: Spina Bifida Occulta 12 54 30 56 6 45 15
Closed Spina Bifida 54
Occult Spina Bifida 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0080073
MeSH 45 D016136
ICD10 34 Q76.0

Summaries for Spina Bifida Occulta

NIH Rare Diseases : 54 Spina bifida occulta (SBO) occurs when the bones of the spinal column do not completely close around the developing nerves of the spinal cord. In most cases SBO causes no symptoms, however cases associated with back and urogenital problems have been reported. SBO has an estimated prevalence of 12.4%.

MalaCards based summary : Spina Bifida Occulta, also known as closed spina bifida, is related to neural tube defects and thakker-donnai syndrome. An important gene associated with Spina Bifida Occulta is MTHFR (Methylenetetrahydrofolate Reductase). The drugs Acetazolamide and Carbonic Anhydrase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and skin, and related phenotypes are growth/size/body region and embryo

Related Diseases for Spina Bifida Occulta

Graphical network of the top 20 diseases related to Spina Bifida Occulta:



Diseases related to Spina Bifida Occulta

Symptoms & Phenotypes for Spina Bifida Occulta

MGI Mouse Phenotypes related to Spina Bifida Occulta:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 HES7 JARID2 LAMA5 MTHFR PAX1 PTCH1
2 embryo MP:0005380 9.8 HES7 JARID2 LAMA5 PAX1 PTCH1
3 mortality/aging MP:0010768 9.8 HES7 JARID2 LAMA5 MTHFR PAX1 PTCH1
4 limbs/digits/tail MP:0005371 9.72 HES7 LAMA5 MTHFR PAX1 PTCH1
5 muscle MP:0005369 9.46 JARID2 PAX1 PTCH1 ZIC1
6 nervous system MP:0003631 9.43 JARID2 LAMA5 MTHFR PAX1 PTCH1 ZIC1
7 skeleton MP:0005390 9.17 HES7 JARID2 LAMA5 MTHFR PAX1 PTCH1

Drugs & Therapeutics for Spina Bifida Occulta

Drugs for Spina Bifida Occulta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
2 Carbonic Anhydrase Inhibitors Phase 2
3 Natriuretic Agents Phase 2
4 diuretics Phase 2
5 Anticonvulsants Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Acetazolamide & Position in CSF Leakage and Collection and Wound Dehiscence Unknown status NCT01867268 Phase 2 Acetazolamide
2 The Relationship Between Nocturnal Enuresis And Spina Bifida Occulta Completed NCT03543995

Search NIH Clinical Center for Spina Bifida Occulta

Cochrane evidence based reviews: spina bifida occulta

Genetic Tests for Spina Bifida Occulta

Genetic tests related to Spina Bifida Occulta:

# Genetic test Affiliating Genes
1 Spina Bifida Occulta 30

Anatomical Context for Spina Bifida Occulta

MalaCards organs/tissues related to Spina Bifida Occulta:

42
Bone, Spinal Cord, Skin, Thyroid

Publications for Spina Bifida Occulta

Articles related to Spina Bifida Occulta:

(show top 50) (show all 173)
# Title Authors Year
1
The Relationship Between Nocturnal Enuresis and Spina Bifida Occulta: A Prospective Controlled Trial. ( 30099128 )
2018
2
Trisomy 22 with long spina bifida occulta: A case report. ( 30278506 )
2018
3
Prenatal diagnosis of closed spina bifida: multicenter case series and review of the literature. ( 30001658 )
2018
4
Does the Prevalence of Spondylolysis and Spina Bifida Occulta Observed in Pediatric Patients Remain Stable in Adults? ( 28937467 )
2017
5
Anatomical variation: T1 spina bifida occulta. Radiological findings. ( 28228912 )
2017
6
Ultrasonographic clues for diagnosis of spina bifida occulta in children. ( 27942474 )
2016
7
Prevalence of Spina Bifida Occulta and Its Relationship With Overactive Bladder in Middle-Aged and Elderly Chinese People. ( 27377948 )
2016
8
Are Transitional Vertebra and Spina Bifida Occulta Related with Lumbar Disc Herniation and Clinical Parameters in Young Patients with Chronic Low Back Pain? ( 28149141 )
2016
9
Transitional Vertebra and Spina Bifida Occulta Related with Chronic Low Back Pain in a Young Patient. ( 27904817 )
2016
10
Can atlas spina bifida-occulta be a cause of cervicogenic headaches? ( 26543740 )
2015
11
Sacral fatigue fractures in children with sacral spina bifida occulta. ( 26196371 )
2015
12
Nocturnal enuresis with spina bifida occulta: Does it interfere behavioral management success? ( 26149636 )
2015
13
Spondylolysis and spina bifida occulta in pediatric patients: prevalence study using computed tomography as a screening method. ( 25070790 )
2014
14
Prenatal evaluation of the conus medullaris position in normal fetuses and fetuses with spina bifida occulta using three-dimensional ultrasonography. ( 24604267 )
2014
15
Spina Bifida occulta and aperta: a review of current treatment paradigms. ( 25387659 )
2014
16
The adverse influence of spina bifida occulta on the medical treatment outcome of primary monosymptomatic nocturnal enuresis. ( 25641449 )
2014
17
Chiropractic care of acute low back pain and incidental spina bifida occulta: a case report. ( 25435841 )
2014
18
Does the Prevalence of Spondylolysis and Spina Bifida Occulta Observed in Pediatric Patients Remain Stable in Adults? ( 25353203 )
2014
19
Spina bifida occulta in high grade spondylolisthesis. ( 24825035 )
2014
20
Editorial comment to spina bifida occulta: not to be overlooked in children with nocturnal enuresis. ( 23380002 )
2013
21
Solitary osteochondroma arising from cervical spina bifida occulta. ( 24383028 )
2013
22
Lumbosacral transitional vertebra associated with sacral spina bifida occulta: a case report. ( 24592751 )
2013
23
Lumbo-sacral malformations and spina bifida occulta in medieval skeletons from Brittany. ( 23412445 )
2013
24
The longest faun tail forming dreadlocks with underlying spina bifida occulta. ( 24021371 )
2013
25
A complete gonadal dysgenesis case with mental retardation, congenital hipA dislocation, severe vertebra rotoscoliosis, pectus excavatus, and spina bifida occulta. ( 22357191 )
2013
26
Spina bifida occulta: not to be overlooked in children with nocturnal enuresis. ( 23294087 )
2013
27
Gender and morphogenetic variability of patients with spina bifida occulta and spina bifida aperta: prospective population-genetic study. ( 23930055 )
2012
28
Causal connection of non-specific low back pain and disc degeneration in children with transitional vertebra and/or Spina bifida occulta: role of magnetic resonance--prospective study. ( 22856255 )
2012
29
Traumatic sacral pseudomeningocele with spina bifida occulta. ( 21943246 )
2012
30
Confirmation of microevolutionary increase in spina bifida occulta among Swiss birth cohorts. ( 20632043 )
2011
31
A 27 year-old man with a midline lumbar skin appendage and spina bifida occulta on radiograph. Open spinal dysraphism. ( 22007361 )
2011
32
Status epilepticus attributed to moxifloxacin in an adolescent patient with spina bifida occulta. ( 20809082 )
2011
33
Meningocele due to closed spina bifida mimicking a metastasis of papillary thyroid carcinoma on whole body radioactive iodine scan. ( 22066481 )
2011
34
Is There Any Association between Spina bifida occulta and Primary Vesicoureteral Reflux? ( 23056728 )
2010
35
A cervical myelopathy caused by invaginated anomaly of laminae of the axis in spina bifida occulta with hypoplasia of the atlas: case report. ( 20375772 )
2010
36
Degree of genetic homozygosity and distribution of AB0 blood types among patients with spina bifida occulta and spina bifida aperta. ( 22427757 )
2010
37
677C>T and 1298A>C polymorphisms of methylenetetrahydropholate reductase gene and biochemical parameters in Turkish population with spina bifida occulta. ( 20066615 )
2010
38
Congenital absent cervical spine pedicle and cervical spina bifida occulta. ( 21145528 )
2010
39
Quantitative analysis of motor neurons of the levator ani muscle in fetal rats with spina bifida occulta. ( 19328533 )
2009
40
Prevalence of sacral spina bifida occulta and its relationship to age, sex, race, and the sacral table angle: an anatomic, osteologic study of three thousand one hundred specimens. ( 19564762 )
2009
41
Ultrasound-guided neuroaxial anesthesia: accurate diagnosis of spina bifida occulta by ultrasonography. ( 19444584 )
2009
42
Contribution of the multifidus muscle for control of upright posture in subjects with spina bifida occulta. ( 18708681 )
2008
43
Spina bifida occulta. ( 18352777 )
2008
44
Congenital scoliosis, supernumerary nipples and spina bifida occulta. ( 18541973 )
2008
45
Spina bifida occulta and monozygotic twins. ( 18831659 )
2008
46
Outcome of untethering for symptomatic spina bifida occulta with lumbosacral spinal cord tethering in 31 patients: analysis of preoperative prognostic factors. ( 18586199 )
2008
47
Spina bifida occulta. Foot deformities, enuresis and vertebral cleft: clinical picture and neurophysiological assessment. ( 18500214 )
2008
48
Segmental wire fixation for lumbar spondylolysis associated with spina bifida occulta. ( 18040701 )
2008
49
Constipation is associated with spina bifida occulta in children. ( 19081525 )
2008
50
Spina bifida occulta: is it a predictor of underlying spinal cord abnormality in patients with lower urinary tract dysfunction? ( 18352778 )
2008

Variations for Spina Bifida Occulta

ClinVar genetic disease variations for Spina Bifida Occulta:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(3;10)(p26.3;q26.3)dn Translocation Pathogenic

Expression for Spina Bifida Occulta

Search GEO for disease gene expression data for Spina Bifida Occulta.

Pathways for Spina Bifida Occulta

GO Terms for Spina Bifida Occulta

Biological processes related to Spina Bifida Occulta according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.73 HES7 JARID2 PAX1 ZIC1
2 cell differentiation GO:0030154 9.67 HES7 JARID2 LAMA5 ZIC1
3 negative regulation of transcription, DNA-templated GO:0045892 9.65 HES7 JARID2 PTCH1
4 protein localization to plasma membrane GO:0072659 9.52 LAMA5 PTCH1
5 central nervous system development GO:0007417 9.51 JARID2 ZIC1
6 animal organ morphogenesis GO:0009887 9.49 LAMA5 PTCH1
7 neural tube closure GO:0001843 9.46 MTHFR PTCH1
8 somitogenesis GO:0001756 9.4 HES7 PAX1
9 thymus development GO:0048538 9.32 JARID2 PAX1
10 branching involved in ureteric bud morphogenesis GO:0001658 9.26 LAMA5 PTCH1
11 regulation of smoothened signaling pathway GO:0008589 9.16 PTCH1 ZIC1
12 regulation of cell proliferation GO:0042127 9.13 JARID2 LAMA5 PTCH1
13 pattern specification process GO:0007389 8.8 PAX1 PTCH1 ZIC1

Molecular functions related to Spina Bifida Occulta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.26 HES7 JARID2 PAX1 ZIC1
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.8 HES7 JARID2 ZIC1

Sources for Spina Bifida Occulta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....