MCID: SPN221
MIFTS: 39

Spina Bifida Occulta

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Spina Bifida Occulta

MalaCards integrated aliases for Spina Bifida Occulta:

Name: Spina Bifida Occulta 12 20 29 54 6 44 15 32
Closed Spina Bifida 20
Occult Spina Bifida 20

Classifications:



External Ids:

Disease Ontology 12 DOID:0080073
MeSH 44 D016136
ICD10 32 Q76.0

Summaries for Spina Bifida Occulta

GARD : 20 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 myelomeningocele and meningocele. An important gene associated with Spina Bifida Occulta is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Signaling by Hedgehog and One carbon pool by folate. The drugs Acetazolamide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, thyroid and bone marrow, and related phenotypes are embryo and growth/size/body region

Disease Ontology : 12 A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed.

Related Diseases for Spina Bifida Occulta

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

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 myelomeningocele 32.0 VANGL2 VANGL1 MTHFR MTHFD1
2 meningocele 31.3 VANGL1 MESP2 INTU HES7 FUZ C2CD3
3 tethered spinal cord syndrome 31.3 VANGL1 MTHFD1
4 neural tube defects 30.7 VANGL2 VANGL1 TULP3 SELENOH PTCH1 PAX1
5 exencephaly 30.6 VANGL2 MTHFR
6 syringomyelia 30.5 GDF6 GDF3
7 sacral defect with anterior meningocele 30.3 VANGL1 MESP2 HES7 FUZ
8 scoliosis 29.8 VANGL1 PAX1 MESP2 HES7 GDF3
9 acropectorovertebral dysplasia 11.3
10 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects 11.3
11 gluteal muscles, absence of 11.3
12 acrodysplasia scoliosis 11.3
13 thakker-donnai syndrome 11.3
14 lipomatosis, multiple 10.7
15 pleomorphic lipoma 10.7
16 spondylolysis 10.7
17 back pain 10.6
18 spondylolisthesis 10.6
19 constipation 10.5
20 spina bifida aperta 10.5
21 syringomyelia, noncommunicating isolated 10.5
22 urinary tract infection 10.4
23 neurogenic bladder 10.4
24 spina bifida cystica 10.4
25 ainhum 10.3
26 vesicoureteral reflux 1 10.3
27 diastematomyelia 10.3
28 lipomyelomeningocele 10.3
29 idiopathic scoliosis 10.3
30 clubfoot 10.3
31 low compliance bladder 10.3
32 tuberous sclerosis 10.3
33 hypertrichosis 10.3
34 muscular atrophy 10.3
35 spasticity 10.3
36 choline deficiency disease 10.3 MTHFR MTHFD1
37 cutis laxa, autosomal dominant 3 10.3 MTHFR MTHFD1
38 cutis laxa, autosomal dominant 2 10.2 MTHFR MTHFD1
39 joubert syndrome 17 10.2 INTU FUZ
40 isolated anencephaly 10.2 VANGL2 MTHFR
41 isolated exencephaly 10.2 VANGL2 MTHFR
42 epidermoid cysts 10.2
43 marfan syndrome 10.2
44 triiodothyronine receptor auxiliary protein 10.2
45 anus, imperforate 10.2
46 arachnoid cysts, intracranial 10.2
47 leprosy 3 10.2
48 46,xy sex reversal 1 10.2
49 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.2
50 ifap syndrome 2 10.2

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 embryo MP:0005380 10.31 C2CD3 FUZ GDF3 GPR63 HES7 INTU
2 growth/size/body region MP:0005378 10.3 C2CD3 FUZ GDF3 GDF6 GPR63 HES7
3 limbs/digits/tail MP:0005371 10.22 C2CD3 FUZ GDF6 GPR63 HES7 INTU
4 mortality/aging MP:0010768 10.21 C2CD3 FUZ GDF3 GDF6 GPR63 HES7
5 cellular MP:0005384 10.2 C2CD3 FUZ GDF3 INTU MESP2 MTHFD1
6 cardiovascular system MP:0005385 10.18 C2CD3 FUZ INTU MESP2 MTHFD1 PAX1
7 nervous system MP:0003631 10.06 C2CD3 FUZ GDF6 GPR63 INTU MESP2
8 craniofacial MP:0005382 10.03 FUZ GDF6 MTHFD1L PAX1 PTCH1 TRPM6
9 skeleton MP:0005390 9.8 FUZ GDF6 GPR63 HES7 INTU MESP2
10 vision/eye MP:0005391 9.28 FUZ GDF6 INTU MTHFR PTCH1 RAB23

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 diuretics Phase 2
4 Carbonic Anhydrase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluating the Effect of Acetazolamide Administration and Prone Positioning Following Lumbosacral Spinal Surgery in Preventing Cerebro Spinal Fluid Leakage and Collection and Wound Dehiscence in Children. Unknown status NCT01867268 Phase 2 Acetazolamide
2 The Relationship Between Nocturnal Enuresis And Spina Bifida Occulta: A Prospective Controlled Trial 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 29

Anatomical Context for Spina Bifida Occulta

MalaCards organs/tissues related to Spina Bifida Occulta:

40
Spinal Cord, Thyroid, Bone Marrow, Skin, Bone, Heart, Brain

Publications for Spina Bifida Occulta

Articles related to Spina Bifida Occulta:

(show top 50) (show all 575)
# Title Authors PMID Year
1
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. 61 54
14699618 2004
2
Brain malformations and cognitive performance in spina bifida. 61
33140418 2021
3
Distribution and imaging characteristics of spina bifida occulta in young people with low back pain: a retrospective cross-sectional study. 61
33618758 2021
4
Dynamic mapping using an electrified ultrasonic aspirator in lipomyelomeningocele and spinal cord detethering surgery-a feasibility study. 61
33404721 2021
5
Factors associated with failure of bony union after conservative treatment of acute cases of unilateral lumbar spondylolysis. 61
33441118 2021
6
Anatomical variations and evolution: re-evaluating their importance for surgeons. 61
33368956 2020
7
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients. 61
33043588 2020
8
Physiopathology of the diabetic bladder. 61
33348955 2020
9
Assessment of patients with lower urinary tract symptoms where an undiagnosed neurological disease is suspected: A report from an International Continence Society consensus working group. 61
32754994 2020
10
Mini-Tubular Access Surgery: A Single Surgeon's 12 Years in the Corridors of the Neuroaxis. 61
32911550 2020
11
Characteristics and diagnostic factors associated with fresh lumbar spondylolysis in elementary school-aged children. 61
32737580 2020
12
Characteristics of adolescent lumbar spondylolysis with acute unilateral fatigue fracture and contralateral pseudoarthrosis. 61
33033537 2020
13
Incidence of intraspinal abnormalities in congenital scoliosis: a systematic review and meta-analysis. 61
33087139 2020
14
Sacral spina bifida occulta rare occurrence in Byzantine Belentepe population in Mu─čla, Turkey: A possible case for adequate folic acid intake. 61
32161937 2020
15
Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes. 61
32650820 2020
16
Collagen particles with collagen-binding bone morphogenetic protein-2 promote vertebral laminar regeneration in infant rabbits. 61
32580184 2020
17
Site-1 protease ablation in the osterix-lineage in mice results in bone marrow neutrophilia and hematopoietic stem cell alterations. 61
32576566 2020
18
Images of the month: Lower-back pain in a young man with HLA B27 - not always spondyloarthritis! 61
32414737 2020
19
Full Endoscopic Lumbar Diskectomy for Lumbar Disk Herniation in the Presence of a Low-Lying Cord. 61
32084619 2020
20
Management of Paronychia in Patients With Apert Syndrome. 61
32398550 2020
21
Spina Bifida Occulta with Bilateral Spondylolysis at the Thoracolumbar Junction Presenting Cauda Equina Syndrome. 61
32082667 2020
22
Effects of parental level of income and visual presentation of spina bifida occulta in decision making process. 61
33033633 2020
23
A Transforaminal Endoscopic Surgical Technique for Treating Lumbar Disc Herniation in the Setting of Spina Bifida. 61
32231822 2020
24
Persistent genital arousal disorder: a special sense neuropathy. 61
32072096 2020
25
Congenital spinal dysraphism with infected sacrococcygeal sinus tract: need for improved awareness amongst clinicians. 61
33193789 2020
26
Cervical Lipomyelomeningocele Presenting with Progressive Motor Deficit: A Case Report and Review of the Literature. 61
31747658 2020
27
Sacral neuromodulation in congenital lumbo-sacral and traumatic spinal cord defects with neurogenic lower urinary tract symptoms: a single-center experience in children and adolescents. 61
30864008 2019
28
Spina bifida occulta and surgical treatment in a Yorkshire terrier. 61
31364778 2019
29
The paleoepidemiology of Sacral Spina Bifida Occulta in population samples from the Dakhleh Oasis, Egypt. 61
31351222 2019
30
Do we need to scan the whole neuraxis for coexistent abnormalities in children with surgically treated occult spinal dysraphism? 61
31083790 2019
31
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. 61
31041856 2019
32
Short-term results of patients with neural tube defects followed-up in the Konya region, Turkey. 61
30708397 2019
33
Bony Healing of Discontinuous Laminar Stress Fractures Due to Contralateral Pars Defect or Spina Bifida Occulta. 61
31435554 2019
34
Encouraging Results of Bowel and Bladder Management in Spina Bifida Aperta in South India with Quality of Life Scores in a Tertiary Care Institution in South India. 61
30686883 2019
35
Spondylocostal Dysostosis Associated with Split Spinal Cord and Other Malformations. 61
31597143 2019
36
An Adolescent Athlete with Low Back Pain Associated with Spina Bifida Occulta at the Thoracolumbar Junction : A Case Report. 61
31064941 2019
37
Type I split cord malformation and tethered cord syndrome in an adult patient: A case report and literature review. 61
31528428 2019
38
Prevalence of curable and pseudoarthrosis stages of adolescent lumbar spondylolysis. 61
30546798 2018
39
Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7. 61
29660408 2018
40
The Relationship Between Nocturnal Enuresis and Spina Bifida Occulta: A Prospective Controlled Trial. 61
30099128 2018
41
Trisomy 22 with long spina bifida occulta: A case report. 61
30278506 2018
42
Homologous cryopreserved amniotic membrane in the repair of myelomeningocele: preliminary experience. 61
29858946 2018
43
Laparoscopic implantation of electrodes for bilateral neuromodulation of the pudendal nerves and S3 nerve roots for treating pelvic pain and voiding dysfunction. 61
28712018 2018
44
[Spina bifida]. 61
29797041 2018
45
Pure Tethered Cervical Cord and Review of Literature. 61
29492126 2018
46
Lumbosacral Defects in a 16th-18th-Century Joseon Dynasty Skeletal Series from Korea. 61
30050941 2018
47
Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1. 61
29483894 2018
48
Does the Prevalence of Spondylolysis and Spina Bifida Occulta Observed in Pediatric Patients Remain Stable in Adults? 61
28937467 2017
49
Neural tube defects in Waardenburg syndrome: A case report and review of the literature. 61
28686331 2017
50
Magnetic Resonance Imaging in Paediatric Spinal Dysraphism with Comparative Usefulness of Various Magnetic Resonance Sequences. 61
28969239 2017

Variations for Spina Bifida Occulta

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 24)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.9 VANGL2 VANGL1 TULP3 RAB23 PAX1 MESP2
2 cilium assembly GO:0060271 9.86 RAB23 INTU FUZ C2CD3
3 skeletal system development GO:0001501 9.79 PAX1 HES7 GDF3
4 pattern specification process GO:0007389 9.7 PTCH1 PAX1 C2CD3
5 embryonic digit morphogenesis GO:0042733 9.69 TULP3 INTU C2CD3
6 neural tube development GO:0021915 9.67 TULP3 INTU C2CD3
7 negative regulation of smoothened signaling pathway GO:0045879 9.62 TULP3 PTCH1
8 somite development GO:0061053 9.61 PTCH1 MTHFD1
9 folic acid metabolic process GO:0046655 9.61 MTHFR MTHFD1L MTHFD1
10 dorsal/ventral neural tube patterning GO:0021904 9.6 TULP3 PTCH1
11 methionine biosynthetic process GO:0009086 9.59 MTHFR MTHFD1
12 neural tube formation GO:0001841 9.58 TULP3 PTCH1
13 embryonic viscerocranium morphogenesis GO:0048703 9.58 MTHFD1L MTHFD1
14 establishment of planar polarity GO:0001736 9.58 VANGL2 INTU FUZ
15 negative regulation of cell division GO:0051782 9.57 PTCH1 INTU
16 non-motile cilium assembly GO:1905515 9.56 VANGL2 INTU FUZ C2CD3
17 methionine metabolic process GO:0006555 9.55 MTHFR MTHFD1
18 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.54 TULP3 PTCH1
19 tetrahydrofolate interconversion GO:0035999 9.54 MTHFR MTHFD1L MTHFD1
20 embryonic neurocranium morphogenesis GO:0048702 9.5 TULP3 MTHFD1L MTHFD1
21 neural plate axis specification GO:0021997 9.48 PTCH1 C2CD3
22 10-formyltetrahydrofolate biosynthetic process GO:0009257 9.46 MTHFD1L MTHFD1
23 regulation of smoothened signaling pathway GO:0008589 9.35 TULP3 PTCH1 INTU FUZ C2CD3
24 neural tube closure GO:0001843 9.17 VANGL2 TULP3 PTCH1 MTHFR MTHFD1L MTHFD1

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

# Name GO ID Score Top Affiliating Genes
1 methylenetetrahydrofolate dehydrogenase (NADP+) activity GO:0004488 8.96 MTHFD1L MTHFD1
2 formate-tetrahydrofolate ligase activity GO:0004329 8.62 MTHFD1L MTHFD1

Sources for Spina Bifida Occulta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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