MCID: SPN221
MIFTS: 34

Spina Bifida Occulta

Categories: Rare diseases

Aliases & Classifications for Spina Bifida Occulta

MalaCards integrated aliases for Spina Bifida Occulta:

Name: Spina Bifida Occulta 12 53 29 55 6 15
Closed Spina Bifida 53
Occult Spina Bifida 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0080073
ICD10 33 Q76.0

Summaries for Spina Bifida Occulta

NIH Rare Diseases : 53 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 gluteal muscles, absence of. An important gene associated with Spina Bifida Occulta is MTHFR (Methylenetetrahydrofolate Reductase). The drugs Acetazolamide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and skin, and related phenotypes are growth/size/body region and limbs/digits/tail

Related Diseases for Spina Bifida Occulta

Diseases related to Spina Bifida Occulta via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 neural tube defects 31.6 MTHFR PTCH1 ZIC1
2 gluteal muscles, absence of 11.3
3 myelomeningocele 11.3
4 meningocele 11.3
5 acrodysplasia scoliosis 11.3
6 acropectorovertebral dysplasia f form 11.3
7 split hand urinary anomalies spina bifida 11.3
8 cervicitis 10.5
9 spondylolisthesis 10.4
10 spondylolysis 10.4
11 back pain 10.4
12 aging 10.3
13 spina bifida aperta 10.3
14 neural tube defects, folate-sensitive 10.2
15 scoliosis 10.2
16 tuberous sclerosis 10.2
17 constipation 10.2
18 tethered cord syndrome 10.2
19 nipples, supernumerary 10.1
20 spinal arachnoiditis 10.1
21 vesicoureteral reflux 1 10.1
22 diastematomyelia 10.1
23 paine syndrome 10.1
24 idiopathic scoliosis 10.1
25 tethered spinal cord syndrome 10.1
26 neurogenic bladder 10.1
27 arachnoiditis 10.1
28 gonadal dysgenesis 10.1
29 status epilepticus 10.1
30 testicular cancer 10.1
31 syringomyelia 10.1
32 teratoma 10.1
33 hypertrichosis 10.1
34 neuronitis 10.1
35 neurofibroma 10.1
36 arachnoid cysts 10.1
37 osteochondroma 10.1
38 headache 10.1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.8 PTCH1 SLC26A2 ZIC1 HES7 JARID2 LAMA5
2 limbs/digits/tail MP:0005371 9.55 HES7 LAMA5 MTHFR PTCH1 SLC26A2
3 mortality/aging MP:0010768 9.5 HES7 JARID2 LAMA5 MTHFR PTCH1 SLC26A2
4 skeleton MP:0005390 9.17 HES7 JARID2 LAMA5 MTHFR PTCH1 SLC26A2

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 Anticonvulsants Phase 2
3 Carbonic Anhydrase Inhibitors Phase 2
4 diuretics Phase 2
5 Natriuretic Agents 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

Genetic Tests for Spina Bifida Occulta

Genetic tests related to Spina Bifida Occulta:

# Genetic test Affiliating Genes
1 Spina Bifida Occulta 29

Anatomical Context for Spina Bifida Occulta

MalaCards organs/tissues related to Spina Bifida Occulta:

41
Spinal Cord, Bone, Skin

Publications for Spina Bifida Occulta

Articles related to Spina Bifida Occulta:

(show top 50) (show all 161)
# Title Authors Year
1
Does the Prevalence of Spondylolysis and Spina Bifida Occulta Observed in Pediatric Patients Remain Stable in Adults? ( 28937467 )
2017
2
Anatomical variation: T1 spina bifida occulta. Radiological findings. ( 28228912 )
2017
3
Ultrasonographic clues for diagnosis of spina bifida occulta in children. ( 27942474 )
2016
4
Prevalence of Spina Bifida Occulta and Its Relationship With Overactive Bladder in Middle-Aged and Elderly Chinese People. ( 27377948 )
2016
5
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
6
Transitional Vertebra and Spina Bifida Occulta Related with Chronic Low Back Pain in a Young Patient. ( 27904817 )
2016
7
Can atlas spina bifida-occulta be a cause of cervicogenic headaches? ( 26543740 )
2015
8
Sacral fatigue fractures in children with sacral spina bifida occulta. ( 26196371 )
2015
9
Nocturnal enuresis with spina bifida occulta: Does it interfere behavioral management success? ( 26149636 )
2015
10
Spondylolysis and spina bifida occulta in pediatric patients: prevalence study using computed tomography as a screening method. ( 25070790 )
2014
11
Prenatal evaluation of the conus medullaris position in normal fetuses and fetuses with spina bifida occulta using three-dimensional ultrasonography. ( 24604267 )
2014
12
Spina Bifida occulta and aperta: a review of current treatment paradigms. ( 25387659 )
2014
13
The adverse influence of spina bifida occulta on the medical treatment outcome of primary monosymptomatic nocturnal enuresis. ( 25641449 )
2014
14
Chiropractic care of acute low back pain and incidental spina bifida occulta: a case report. ( 25435841 )
2014
15
Does the Prevalence of Spondylolysis and Spina Bifida Occulta Observed in Pediatric Patients Remain Stable in Adults? ( 25353203 )
2014
16
Spina bifida occulta in high grade spondylolisthesis. ( 24825035 )
2014
17
Editorial comment to spina bifida occulta: not to be overlooked in children with nocturnal enuresis. ( 23380002 )
2013
18
Solitary osteochondroma arising from cervical spina bifida occulta. ( 24383028 )
2013
19
Lumbosacral transitional vertebra associated with sacral spina bifida occulta: a case report. ( 24592751 )
2013
20
Lumbo-sacral malformations and spina bifida occulta in medieval skeletons from Brittany. ( 23412445 )
2013
21
The longest faun tail forming dreadlocks with underlying spina bifida occulta. ( 24021371 )
2013
22
A complete gonadal dysgenesis case with mental retardation, congenital hipA dislocation, severe vertebra rotoscoliosis, pectus excavatus, and spina bifida occulta. ( 22357191 )
2013
23
Spina bifida occulta: not to be overlooked in children with nocturnal enuresis. ( 23294087 )
2013
24
Gender and morphogenetic variability of patients with spina bifida occulta and spina bifida aperta: prospective population-genetic study. ( 23930055 )
2012
25
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
26
Traumatic sacral pseudomeningocele with spina bifida occulta. ( 21943246 )
2012
27
Confirmation of microevolutionary increase in spina bifida occulta among Swiss birth cohorts. ( 20632043 )
2011
28
A 27 year-old man with a midline lumbar skin appendage and spina bifida occulta on radiograph. Open spinal dysraphism. ( 22007361 )
2011
29
Status epilepticus attributed to moxifloxacin in an adolescent patient with spina bifida occulta. ( 20809082 )
2011
30
Is There Any Association between Spina bifida occulta and Primary Vesicoureteral Reflux? ( 23056728 )
2010
31
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
32
Degree of genetic homozygosity and distribution of AB0 blood types among patients with spina bifida occulta and spina bifida aperta. ( 22427757 )
2010
33
677C>T and 1298A>C polymorphisms of methylenetetrahydropholate reductase gene and biochemical parameters in Turkish population with spina bifida occulta. ( 20066615 )
2010
34
Congenital absent cervical spine pedicle and cervical spina bifida occulta. ( 21145528 )
2010
35
Quantitative analysis of motor neurons of the levator ani muscle in fetal rats with spina bifida occulta. ( 19328533 )
2009
36
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
37
Ultrasound-guided neuroaxial anesthesia: accurate diagnosis of spina bifida occulta by ultrasonography. ( 19444584 )
2009
38
Contribution of the multifidus muscle for control of upright posture in subjects with spina bifida occulta. ( 18708681 )
2008
39
Spina bifida occulta. ( 18352777 )
2008
40
Congenital scoliosis, supernumerary nipples and spina bifida occulta. ( 18541973 )
2008
41
Spina bifida occulta and monozygotic twins. ( 18831659 )
2008
42
Outcome of untethering for symptomatic spina bifida occulta with lumbosacral spinal cord tethering in 31 patients: analysis of preoperative prognostic factors. ( 18586199 )
2008
43
Spina bifida occulta. Foot deformities, enuresis and vertebral cleft: clinical picture and neurophysiological assessment. ( 18500214 )
2008
44
Segmental wire fixation for lumbar spondylolysis associated with spina bifida occulta. ( 18040701 )
2008
45
Constipation is associated with spina bifida occulta in children. ( 19081525 )
2008
46
Spina bifida occulta: is it a predictor of underlying spinal cord abnormality in patients with lower urinary tract dysfunction? ( 18352778 )
2008
47
Tethered cord due to spina bifida occulta presenting in adulthood: a tricenter review of 61 patients. ( 17355019 )
2007
48
Is it real? Spina bifida occulta. ( 17391599 )
2007
49
Postural sway at ground and bevel levels in subjects with spina bifida occulta. ( 16835732 )
2007
50
Tethering tracts in spina bifida occulta: revisiting an established nomenclature. ( 17877266 )
2007

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:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.5 HES7 JARID2 PTCH1
2 protein localization to plasma membrane GO:0072659 9.43 LAMA5 PTCH1
3 central nervous system development GO:0007417 9.4 JARID2 ZIC1
4 animal organ morphogenesis GO:0009887 9.37 LAMA5 PTCH1
5 pattern specification process GO:0007389 9.26 PTCH1 ZIC1
6 branching involved in ureteric bud morphogenesis GO:0001658 9.16 LAMA5 PTCH1
7 regulation of cell proliferation GO:0042127 9.13 JARID2 LAMA5 PTCH1
8 regulation of smoothened signaling pathway GO:0008589 8.62 PTCH1 ZIC1

Sources for Spina Bifida Occulta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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