MCID: SPN221
MIFTS: 36

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 53 29 55 6 44 15 33
Closed Spina Bifida 53
Occult Spina Bifida 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0080073
MeSH 44 D016136
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 myelomeningocele. An important gene associated with Spina Bifida Occulta is MTHFR (Methylenetetrahydrofolate Reductase). The drugs Acetazolamide and diuretics have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and prostate, and related phenotypes are growth/size/body region and embryo

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 91)
# Related Disease Score Top Affiliating Genes
1 neural tube defects 32.2 ZIC1 PTCH1 PAX1 MTHFR
2 myelomeningocele 11.9
3 meningocele 11.9
4 thakker-donnai syndrome 11.6
5 gluteal muscles, absence of 11.6
6 acrodysplasia scoliosis 11.6
7 acropectorovertebral dysplasia f form 11.6
8 split hand urinary anomalies spina bifida 11.6
9 lipomatosis, multiple 10.8
10 pleomorphic lipoma 10.8
11 back pain 10.8
12 spondylolysis 10.8
13 sacral defect with anterior meningocele 10.7
14 spondylolisthesis 10.7
15 constipation 10.6
16 spina bifida aperta 10.6
17 syringomyelia, noncommunicating isolated 10.6
18 syringomyelia 10.6
19 tethered cord syndrome 10.6
20 scoliosis 10.5
21 neurogenic bladder 10.5
22 spina bifida cystica 10.5
23 ainhum 10.4
24 vesicoureteral reflux 1 10.4
25 diastematomyelia 10.4
26 lipomyelomeningocele 10.4
27 idiopathic scoliosis 10.4
28 low compliance bladder 10.4
29 acute cystitis 10.4
30 tuberous sclerosis 10.4
31 hypertrichosis 10.4
32 muscular atrophy 10.4
33 arachnoid cysts 10.4
34 split spinal cord malformation 10.4
35 talipes equinovarus 10.4
36 spasticity 10.4
37 epidermoid cysts 10.3
38 marfan syndrome 10.3
39 triiodothyronine receptor auxiliary protein 10.3
40 anus, imperforate 10.3
41 leprosy 3 10.3
42 46,xy sex reversal 1 10.3
43 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.3
44 anismus 10.3
45 hydrocephalus 10.3
46 amenorrhea 10.3
47 interstitial cystitis 10.3
48 gonadal dysgenesis 10.3
49 46 xy gonadal dysgenesis 10.3
50 communicating hydrocephalus 10.3

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 9.91 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 diuretics Phase 2
3 Natriuretic Agents Phase 2
4 Anticonvulsants Phase 2
5 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:

41
Spinal Cord, Bone, Prostate, Brain, Heart, Kidney, Thyroid

Publications for Spina Bifida Occulta

Articles related to Spina Bifida Occulta:

(show top 50) (show all 540)
# 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. 9 38
14699618 2004
2
The paleoepidemiology of Sacral Spina Bifida Occulta in population samples from the Dakhleh Oasis, Egypt. 38
31351222 2019
3
Spina bifida occulta and surgical treatment in a Yorkshire terrier. 38
31364778 2019
4
Do we need to scan the whole neuraxis for coexistent abnormalities in children with surgically treated occult spinal dysraphism? 38
31083790 2019
5
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. 38
31041856 2019
6
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. 38
30864008 2019
7
Short-term results of patients with neural tube defects followed-up in the Konya region, Turkey. 38
30708397 2019
8
Bony Healing of Discontinuous Laminar Stress Fractures Due to Contralateral Pars Defect or Spina Bifida Occulta. 38
31435554 2019
9
An Adolescent Athlete with Low Back Pain Associated with Spina Bifida Occulta at the Thoracolumbar Junction : A Case Report. 38
31064941 2019
10
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. 38
30686883 2019
11
Prevalence of curable and pseudoarthrosis stages of adolescent lumbar spondylolysis. 38
30546798 2018
12
Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7. 38
29660408 2018
13
The Relationship Between Nocturnal Enuresis and Spina Bifida Occulta: A Prospective Controlled Trial. 38
30099128 2018
14
Trisomy 22 with long spina bifida occulta: A case report. 38
30278506 2018
15
Homologous cryopreserved amniotic membrane in the repair of myelomeningocele: preliminary experience. 38
29858946 2018
16
Laparoscopic implantation of electrodes for bilateral neuromodulation of the pudendal nerves and S3 nerve roots for treating pelvic pain and voiding dysfunction. 38
28712018 2018
17
[Spina bifida]. 38
29797041 2018
18
Pure Tethered Cervical Cord and Review of Literature. 38
29492126 2018
19
Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1. 38
29483894 2018
20
Lumbosacral Defects in a 16th-18th-Century Joseon Dynasty Skeletal Series from Korea. 38
30050941 2018
21
Does the Prevalence of Spondylolysis and Spina Bifida Occulta Observed in Pediatric Patients Remain Stable in Adults? 38
28937467 2017
22
Neural tube defects in Waardenburg syndrome: A case report and review of the literature. 38
28686331 2017
23
Magnetic Resonance Imaging in Paediatric Spinal Dysraphism with Comparative Usefulness of Various Magnetic Resonance Sequences. 38
28969239 2017
24
Congenital double-level cervical spondylolysis: a case report and review of the literature. 38
28247078 2017
25
Use of Sacral Nerve Stimulation for the Treatment of Overlapping Constipation and Fecal Incontinence. 38
28265107 2017
26
Anatomical variation: T1 spina bifida occulta. Radiological findings. 38
28228912 2017
27
A Novel Occulta-Type Spina Bifida Mediated by Murine Double Heterozygotes EphA2 and EphA4 Receptor Tyrosine Kinases. 38
29312933 2017
28
Cyclopia and proboscis - the extreme end of holoprosencephaly. 38
29556657 2017
29
[A neonate with a mass on the upper back]. 38
28351437 2017
30
Are Transitional Vertebra and Spina Bifida Occulta Related with Lumbar Disc Herniation and Clinical Parameters in Young Patients with Chronic Low Back Pain? 38
28149141 2016
31
Ultrasonographic clues for diagnosis of spina bifida occulta in children. 38
27942474 2016
32
Transitional Vertebra and Spina Bifida Occulta Related with Chronic Low Back Pain in a Young Patient. 38
27904817 2016
33
An Upper and Middle Cervical Spine Posterior Arch Defect Leading to Myelopathy and a Thoracic Spine Posterior Arch Defect. 38
27368510 2016
34
Goltz syndrome: a rare case of father-to-daughter transmission. 38
27530877 2016
35
History of the current understanding and management of tethered spinal cord. 38
26967990 2016
36
Unusual association between cardiac, skeletal, urogenital and renal abnormalities. 38
27402585 2016
37
Prevalence of Spina Bifida Occulta and Its Relationship With Overactive Bladder in Middle-Aged and Elderly Chinese People. 38
27377948 2016
38
Sacral fatigue fractures in children with sacral spina bifida occulta. 38
26196371 2016
39
Central nervous system and cervical spine abnormalities in Apert syndrome. 38
26861132 2016
40
Health Care for Certain Children of Vietnam Veterans and Certain Korea Veterans--Covered Birth Defects and Spina Bifida. Final rule. 38
27051894 2016
41
Clinical features of patients with pars defects identified in adulthood. 38
26662560 2016
42
Characteristics of lumbar spondylolysis in elementary school age children. 38
26006706 2016
43
Sacral malformations: use of imaging to optimise sacral nerve stimulation. 38
26547863 2016
44
Spondylolysis and spina bifida occulta in pediatric patients: prevalence study using computed tomography as a screening method. 38
25070790 2016
45
Secondary Myelitis in Dermal Sinus Causing Paraplegia in a Child with Previously Normal Neurological Function. 38
28050293 2016
46
Sacral spinous processes: a morphologic classification and biomechanical characterization of strength. 38
26343242 2015
47
Nocturnal enuresis with spina bifida occulta: Does it interfere behavioral management success? 38
26149636 2015
48
Relevance of discrete traits in forensic anthropology: From the first cervical vertebra to the pelvic girdle. 38
26048863 2015
49
Spina bifida occulta and aperta: a review of current treatment paradigms. 38
25387659 2015
50
Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene. 38
25754277 2015

Variations for Spina Bifida Occulta

ClinVar genetic disease variations for Spina Bifida Occulta:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
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 ZIC1 PAX1 JARID2 HES7
2 cell differentiation GO:0030154 9.67 ZIC1 LAMA5 JARID2 HES7
3 negative regulation of transcription, DNA-templated GO:0045892 9.65 PTCH1 JARID2 HES7
4 protein localization to plasma membrane GO:0072659 9.52 PTCH1 LAMA5
5 central nervous system development GO:0007417 9.51 ZIC1 JARID2
6 animal organ morphogenesis GO:0009887 9.49 PTCH1 LAMA5
7 neural tube closure GO:0001843 9.46 PTCH1 MTHFR
8 somitogenesis GO:0001756 9.4 PAX1 HES7
9 thymus development GO:0048538 9.32 PAX1 JARID2
10 branching involved in ureteric bud morphogenesis GO:0001658 9.26 PTCH1 LAMA5
11 regulation of smoothened signaling pathway GO:0008589 9.16 ZIC1 PTCH1
12 regulation of cell proliferation GO:0042127 9.13 PTCH1 LAMA5 JARID2
13 pattern specification process GO:0007389 8.8 ZIC1 PTCH1 PAX1

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 ZIC1 PAX1 JARID2 HES7
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.8 ZIC1 JARID2 HES7

Sources for Spina Bifida Occulta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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