MCID: SPN221
MIFTS: 38

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 52 29 54 6 43 15 32
Closed Spina Bifida 52
Occult Spina Bifida 52

Classifications:



External Ids:

Disease Ontology 12 DOID:0080073
MeSH 43 D016136
ICD10 32 Q76.0

Summaries for Spina Bifida Occulta

NIH Rare Diseases : 52 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 meningocele and neural tube defects. An important gene associated with Spina Bifida Occulta is PTCH1 (Patched 1), and among its related pathways/superpathways are One carbon pool by folate and Gene regulatory network modelling somitogenesis. The drugs Acetazolamide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and thyroid, and related phenotypes are embryo and growth/size/body region

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 116)
# Related Disease Score Top Affiliating Genes
1 meningocele 33.1 MESP2 HES7 C2CD3
2 neural tube defects 32.4 SELENOH PTCH1 PES1 MTHFR MTHFD1L MTHFD1
3 myelomeningocele 11.9
4 thakker-donnai syndrome 11.6
5 acropectorovertebral dysplasia 11.6
6 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects 11.6
7 gluteal muscles, absence of 11.6
8 acrodysplasia scoliosis 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 scoliosis 10.5
20 neurogenic bladder 10.5
21 spina bifida cystica 10.5
22 ainhum 10.4
23 vesicoureteral reflux 1 10.4
24 arachnoid cysts, intracranial 10.4
25 diastematomyelia 10.4
26 lipomyelomeningocele 10.4
27 idiopathic scoliosis 10.4
28 clubfoot 10.4
29 low compliance bladder 10.4
30 acute cystitis 10.4
31 tuberous sclerosis 10.4
32 hypertrichosis 10.4
33 muscular atrophy 10.4
34 spasticity 10.4
35 tethered spinal cord syndrome 10.3 PES1 MTHFD1
36 epidermoid cysts 10.3
37 marfan syndrome 10.3
38 triiodothyronine receptor auxiliary protein 10.3
39 anus, imperforate 10.3
40 leprosy 3 10.3
41 46,xy sex reversal 1 10.3
42 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.3
43 anismus 10.3
44 benign teratoma 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.21 C2CD3 FUZ GDF3 HES7 INTU MESP2
2 growth/size/body region MP:0005378 10.17 FUZ GDF3 GDF6 HES7 INTU MESP2
3 mortality/aging MP:0010768 10.09 C2CD3 FUZ GDF3 GDF6 HES7 INKA1
4 limbs/digits/tail MP:0005371 10.03 C2CD3 FUZ GDF6 HES7 INTU MESP2
5 craniofacial MP:0005382 9.95 FUZ GDF6 MTHFD1L PDGFC PES1 PTCH1
6 nervous system MP:0003631 9.8 C2CD3 FUZ GDF6 INKA1 INTU MESP2
7 skeleton MP:0005390 9.36 FUZ GDF6 HES7 INTU MESP2 MTHFR

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 Natriuretic Agents Phase 2
4 Carbonic Anhydrase Inhibitors Phase 2
5 diuretics 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, Bone, Thyroid, Heart, Prostate, Brain, Kidney

Publications for Spina Bifida Occulta

Articles related to Spina Bifida Occulta:

(show top 50) (show all 543)
# 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. 54 61
14699618 2004
2
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
3
Cervical Lipomyelomeningocele Presenting with Progressive Motor Deficit: A Case Report and Review of the Literature. 61
31747658 2019
4
Spina bifida occulta and surgical treatment in a Yorkshire terrier. 61
31364778 2019
5
The paleoepidemiology of Sacral Spina Bifida Occulta in population samples from the Dakhleh Oasis, Egypt. 61
31351222 2019
6
Do we need to scan the whole neuraxis for coexistent abnormalities in children with surgically treated occult spinal dysraphism? 61
31083790 2019
7
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
8
Short-term results of patients with neural tube defects followed-up in the Konya region, Turkey. 61
30708397 2019
9
Spondylocostal Dysostosis Associated with Split Spinal Cord and Other Malformations. 61
31597143 2019
10
Bony Healing of Discontinuous Laminar Stress Fractures Due to Contralateral Pars Defect or Spina Bifida Occulta. 61
31435554 2019
11
Type I split cord malformation and tethered cord syndrome in an adult patient: A case report and literature review. 61
31528428 2019
12
An Adolescent Athlete with Low Back Pain Associated with Spina Bifida Occulta at the Thoracolumbar Junction : A Case Report. 61
31064941 2019
13
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
14
Prevalence of curable and pseudoarthrosis stages of adolescent lumbar spondylolysis. 61
30546798 2018
15
Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7. 61
29660408 2018
16
The Relationship Between Nocturnal Enuresis and Spina Bifida Occulta: A Prospective Controlled Trial. 61
30099128 2018
17
Trisomy 22 with long spina bifida occulta: A case report. 61
30278506 2018
18
Homologous cryopreserved amniotic membrane in the repair of myelomeningocele: preliminary experience. 61
29858946 2018
19
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
20
[Spina bifida]. 61
29797041 2018
21
Pure Tethered Cervical Cord and Review of Literature. 61
29492126 2018
22
Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1. 61
29483894 2018
23
Lumbosacral Defects in a 16th-18th-Century Joseon Dynasty Skeletal Series from Korea. 61
30050941 2018
24
Does the Prevalence of Spondylolysis and Spina Bifida Occulta Observed in Pediatric Patients Remain Stable in Adults? 61
28937467 2017
25
Neural tube defects in Waardenburg syndrome: A case report and review of the literature. 61
28686331 2017
26
Magnetic Resonance Imaging in Paediatric Spinal Dysraphism with Comparative Usefulness of Various Magnetic Resonance Sequences. 61
28969239 2017
27
Congenital double-level cervical spondylolysis: a case report and review of the literature. 61
28247078 2017
28
Use of Sacral Nerve Stimulation for the Treatment of Overlapping Constipation and Fecal Incontinence. 61
28265107 2017
29
Anatomical variation: T1 spina bifida occulta. Radiological findings. 61
28228912 2017
30
A Novel Occulta-Type Spina Bifida Mediated by Murine Double Heterozygotes EphA2 and EphA4 Receptor Tyrosine Kinases. 61
29312933 2017
31
Cyclopia and proboscis - the extreme end of holoprosencephaly. 61
29556657 2017
32
[A neonate with a mass on the upper back]. 61
28351437 2017
33
Are Transitional Vertebra and Spina Bifida Occulta Related with Lumbar Disc Herniation and Clinical Parameters in Young Patients with Chronic Low Back Pain? 61
28149141 2016
34
Ultrasonographic clues for diagnosis of spina bifida occulta in children. 61
27942474 2016
35
Transitional Vertebra and Spina Bifida Occulta Related with Chronic Low Back Pain in a Young Patient. 61
27904817 2016
36
An Upper and Middle Cervical Spine Posterior Arch Defect Leading to Myelopathy and a Thoracic Spine Posterior Arch Defect. 61
27368510 2016
37
Goltz syndrome: a rare case of father-to-daughter transmission. 61
27530877 2016
38
History of the current understanding and management of tethered spinal cord. 61
26967990 2016
39
Unusual association between cardiac, skeletal, urogenital and renal abnormalities. 61
27402585 2016
40
Prevalence of Spina Bifida Occulta and Its Relationship With Overactive Bladder in Middle-Aged and Elderly Chinese People. 61
27377948 2016
41
Sacral fatigue fractures in children with sacral spina bifida occulta. 61
26196371 2016
42
Central nervous system and cervical spine abnormalities in Apert syndrome. 61
26861132 2016
43
Health Care for Certain Children of Vietnam Veterans and Certain Korea Veterans--Covered Birth Defects and Spina Bifida. Final rule. 61
27051894 2016
44
Clinical features of patients with pars defects identified in adulthood. 61
26662560 2016
45
Characteristics of lumbar spondylolysis in elementary school age children. 61
26006706 2016
46
Sacral malformations: use of imaging to optimise sacral nerve stimulation. 61
26547863 2016
47
Spondylolysis and spina bifida occulta in pediatric patients: prevalence study using computed tomography as a screening method. 61
25070790 2016
48
Secondary Myelitis in Dermal Sinus Causing Paraplegia in a Child with Previously Normal Neurological Function. 61
28050293 2016
49
Sacral spinous processes: a morphologic classification and biomechanical characterization of strength. 61
26343242 2015
50
Nocturnal enuresis with spina bifida occulta: Does it interfere behavioral management success? 61
26149636 2015

Variations for Spina Bifida Occulta

ClinVar genetic disease variations for Spina Bifida Occulta:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(3;10)(p26.3;q26.3)dnTranslocation Pathogenic 267848

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 20)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.92 RAB23 PDGFC MESP2 INTU HES7 GDF6
2 cilium assembly GO:0060271 9.84 RAB23 INTU FUZ C2CD3
3 embryonic digit morphogenesis GO:0042733 9.65 SALL1 INTU C2CD3
4 non-motile cilium assembly GO:1905515 9.63 INTU FUZ C2CD3
5 neural tube development GO:0021915 9.61 INTU INKA1 C2CD3
6 one-carbon metabolic process GO:0006730 9.59 MTHFD1L MTHFD1
7 somite development GO:0061053 9.58 PTCH1 MTHFD1
8 establishment of planar polarity GO:0001736 9.58 INTU FUZ
9 embryonic viscerocranium morphogenesis GO:0048703 9.57 MTHFD1L MTHFD1
10 methionine biosynthetic process GO:0009086 9.56 MTHFR MTHFD1
11 negative regulation of cell division GO:0051782 9.55 PTCH1 INTU
12 embryonic neurocranium morphogenesis GO:0048702 9.52 MTHFD1L MTHFD1
13 purine nucleobase biosynthetic process GO:0009113 9.51 MTHFD1L MTHFD1
14 methionine metabolic process GO:0006555 9.49 MTHFR MTHFD1
15 folic acid metabolic process GO:0046655 9.43 MTHFR MTHFD1L MTHFD1
16 neural plate axis specification GO:0021997 9.4 PTCH1 C2CD3
17 10-formyltetrahydrofolate biosynthetic process GO:0009257 9.37 MTHFD1L MTHFD1
18 neural tube closure GO:0001843 9.35 PTCH1 MTHFR MTHFD1L MTHFD1 FUZ
19 tetrahydrofolate interconversion GO:0035999 9.33 MTHFR MTHFD1L MTHFD1
20 regulation of smoothened signaling pathway GO:0008589 8.92 PTCH1 INTU FUZ C2CD3

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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