MCID: SPN038
MIFTS: 63

Spina Bifida malady

Neuronal category

Summaries for Spina Bifida

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 3CDC, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The types of SB are: myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which the spinal cord develops normally but the meninges and spinal fluid) protrude from a spinal opening; closed neural tube defects, which consist of a group of defects in which development of the spinal cord is affected by malformations of the fat, bone, or meninges; and and occulta, the mildest form, in which one or more vertebrae are malformed and covered by a layer of skin. SB may also cause bowel and bladder complications, and many children with SB have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).

MalaCards: Spina Bifida, also known as spinal dysraphism, is related to anencephaly and myelomeningocele. An important gene associated with Spina Bifida is CCL2 (chemokine (C-C motif) ligand 2), and among its related pathways are One Carbon Metabolism and Metabolism of vitamins and cofactors. The compounds folate and homocysteine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, brain and cerebellum, and related mouse phenotypes are homeostasis/metabolism and mortality/aging.

Genetics Home Reference:21 Spina bifida is a condition in which the bones of the spinal column do not close completely around the developing nerves of the spinal cord. As a result, part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Spina bifida results when a structure called the neural tube fails to close completely during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect (NTD).

NIH Rare Diseases:43 Spina bifida is a type of neural tube defect in which the bones of the spinal column do not close completely around the developing nerves of the spinal cord during the development of the embryo. as a result, part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. children born with spina bifida often have a fluid-filled sac on their back covered by skin. if the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele; if it does not, it is known as a meningocele. the signs and symptoms range from mild to severe (depending on the location and extent of spinal cord involvement) and can include a loss of feeling below the level of the opening; weakness or paralysis of the feet or legs; problems with bladder and bowel control; hydrocephalus; and learning problems. with surgery and other forms of treatment, many people with spina bifida live into adulthood. there is also a milder form of the condition called spina bifida occulta. last updated: 5/9/2011

MedlinePlus:34 Spina bifida is a neural tube defect - a type of birth defect of the brain, spine, or spinal cord. it happens if the spinal column of the fetus doesn't close completely during the first month of pregnancy. this can damage the nerves and spinal cord. screening tests during pregnancy can check for spina bifida. sometimes it is discovered only after the baby is born. the symptoms of spina bifida vary from person to person. most people with spina bifida are of normal intelligence. some people need assistive devices such as braces, crutches, or wheelchairs. they may have learning difficulties, urinary and bowel problems, or hydrocephalus, a buildup of fluid in the brain. the exact cause of spina bifida is unknown. it seems to run in families. taking folic acid can reduce the risk of having a baby with spina bifida. it's in most multivitamins. women who could become pregnant should take it daily. nih: national institute of neurological disorders and stroke

CDC:3 Spina bifida is a major birth defect of a person’s spine. With good quality medical care people with spina bifida can reach their full potential. If you have spina bifida, or know someone who does, it’s important to get the facts so that you can make the best possible health care choices.

Wikipedia:64 Spina bifida (Latin: \"split spine\") is a developmental congenital disorder caused by the incomplete... more...

Description from OMIM:47 182940

Aliases & Classifications for Spina Bifida

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 34MedlinePlus, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

spina bifida 8 43 21 44 47 10 45 34
spinal dysraphism 43 21
rachischisis 43 21
cleft spine 43 21
open spine 43 21


External Ids:

Disease Ontology8 DOID:0080016
ICD1025 Q05, Q05.4

Related Diseases for Spina Bifida

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Spina Bifida via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 258)
idRelated DiseaseScoreTop Affiliating Genes
1anencephaly31.7MTHFR, AFP, FOLR1
2myelomeningocele31.2CBS, MTHFR
3neural tube defects31.2MTHFR, T
4cleft palate30.6MTR, NAT1, SLC19A1, MTHFR, BHMT2
5adenocarcinoma30.1NAT1, AFP, FOLR1, NAT2
6vascular disease30.1CBS
7omphalocele30.1AFP
8arthritis30.1CCL2
9atopy30.1NAT2
10bladder carcinoma30.1NAT1, DHFR, MTR, NAT2
11spina bifida occulta11.2
12spina bifida cystica11.2
13spina bifida aperta11.0
14meningocele10.6
15split hand urinary anomalies spina bifida10.6
16neurogenic bladder10.6
17encephalocele10.5
18tethered spinal cord syndrome10.5
19anencephaly and spina bifida x-linked10.5
20fecal incontinence10.4
21spondylolisthesis10.4
22spina bifida hypospadias10.4
23spinal cord injury10.4
24cervical spina bifida cystica10.4
25corpus callosum agenesis10.4
26chiari malformation type 210.4
27craniorachischisis10.4
28diastematomyelia10.4
29kasznica carlson coppedge syndrome10.4
30exencephaly10.4
31iniencephaly10.4
32mental retardation10.4
33lumbosacral spina bifida cystica10.4
34total spina bifida cystica10.4
35upper thoracic spina bifida aperta10.4
36cervical spina bifida aperta10.4
37bacteriuria10.3
38syringomyelia10.3
39tuberous sclerosis10.3
40neurogenic bowel10.3
41digeorge syndrome10.3
42spondylolysis10.3
43waardenburg's syndrome10.3
44n syndrome10.3
45strabismus10.3
46prata libéral gonçalves syndrome10.3
47caudal regression syndrome10.3
48sirenomelia10.3
49schisis association10.3
50occult spinal dysraphism10.3

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



Diseases related to spina bifida

Clinical Features for Spina Bifida

Sources:
47OMIM
See all sources

Clinical features from OMIM:

182940

Drugs & Therapeutics for Spina Bifida

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Spina Bifida

Drug clinical trials:

Search ClinicalTrials for Spina Bifida

Search NIH Clinical Center for Spina Bifida

Search CenterWatch for Spina Bifida

Genetic Tests for Spina Bifida

Anatomical Context for Spina Bifida

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Spina Bifida:

33
Bone marrow, Brain, Cerebellum, Spinal cord, Heart, Colon, Kidney, Lung, Breast, Skin, T cells, B cells, Endothelial, Fetal brain, Parietal lobe, Temporal lobe, Dorsal root ganglion, Fetal lung, Pituitary

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Spina Bifida:
id TissueAnatomical CompartmentCell Relevance
1 Neural TubeNeural Tube  Affected by disease

Animal Models for Spina Bifida or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Spina Bifida

Sources:
51PubMed
See all sources

Articles related to Spina Bifida:

(show top 50)    (show all 1004)
idTitleAuthorsYear
1
Fetoscopic single-layer repair of open spina bifida using a cellulose patch: preliminary clinical experience. (24299030)
2014
2
The Kennedy Krieger Independence Scales-Spina Bifida Version: a measure of executive components of self-management. (23438006)
2013
3
Decreased activation and increased lateralization in brain functioning for selective attention and response inhibition in adolescents with spina bifida. (22145814)
2013
4
Editorial comment to spina bifida occulta: not to be overlooked in children with nocturnal enuresis. (23380002)
2013
5
Pyourachus in spina bifida: case report and review. (22386754)
2012
6
Factors associated with strabismus in spina bifida myelomeningocele. (22588727)
2012
7
Cerebral ventricular system in fetuses with open spina bifida at 11-13 weeks' gestation. (22190387)
2012
8
Quality of life of very young spina bifida patients after initial surgical treatment. (22249383)
2012
9
A comparison of parenting stress between mothers of children with spina bifida and able-bodied controls. (21241175)
2011
10
Individual phenotype trait variability as genetic markers of gender susceptibility to spina bifida. (24052697)
2011
11
Laparoscopic hysteropexy in a patient with spina bifida and ventriculoperitoneal shunt. (21902988)
2011
12
Orthopedic management of spina bifida. (20419777)
2010
13
Preface. The natural history of spina bifida. (20883877)
2010
14
Trajectories of psychosocial adjustment in adolescents with spina bifida: a 6-year, four-wave longitudinal follow-up. (20658808)
2010
15
Effects of reading goals on reading comprehension, reading rate, and allocation of working memory in children and adolescents with spina bifida meningomyelocele. (20338082)
2010
16
The Life Course Model Web site: an online transition-focused resource for the spina bifida community. (20883881)
2010
17
Hospitalizations of adults with spina bifida and congenital spinal cord anomalies. (20382283)
2010
18
Timing of ventriculoperitoneal shunt insertion following spina bifida closure in Kenya. (20422197)
2010
19
Re: The significance of 99mtechnetium dimercapto-succinic acid renal scan in children with spina bifida during long-term follow-up: Y. Shiroyanagi, M. Suzuki, D. Matsuno and Y. Yamazaki J Urol 2009; 181: 2262-2266. (19945126)
2010
20
Transcallosal connectivity and cortical rhythms: findings in children with spina bifida. (19690505)
2009
21
Mobility, assistive technology use, and social integration among adults with spina bifida. (19542778)
2009
22
Neuropsychological assessment of attention in children with spina bifida. (19476646)
2009
23
Urinary tract infections in children with spina bifida: an inventory of 41 European centers. (19066975)
2009
24
Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway. (19223390)
2009
25
Spina Bifida and an extra lower limb. (18465092)
2008
26
Barriers to community participation: Teens and young adults with spina bifida. (21791783)
2008
27
Longterm oculomotor and visual function in spina bifida cystica: a population-based study. (17403023)
2007
28
Traumatic lumbar fracture-dislocation related to spina bifida occulta: case report. (15991599)
2005
29
Intravesical electrical stimulation improves neurogenic bowel dysfunction in children with spina bifida. (15118442)
2004
30
A child with spina bifida, cerebral palsy and juvenile rheumatoid arthritis: rehabilitation challenge. (12097219)
2002
31
Spina bifida cystica: selective management in Zaria, Nigeria. (11064780)
2000
32
Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes. (11031100)
2000
33
Distribution of alleles of the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in familial spina bifida. (10594879)
1999
34
Clinical consequences of spina bifida occulta. (9345683)
1997
35
Neurological defects of the voiding reflex arcs in chronic urinary retention and their relation to spina bifida occulta. (2645967)
1989
36
Progressive neurological deficit in children with spina bifida aperta. (3811614)
1986
37
Differences between the events preceding spina bifida and anencephaly. (7019447)
1981
38
Relation between the low back pain syndrome and x-ray findings. 3. Spina bifida occulta. (6446145)
1980
39
Mal perforans and spina bifida occulta. (24425)
1978
40
Nursing care study: spina bifida cystica. (323821)
1977
41
Comparison of alphafetoprotein and beta-trace protein in the antenatal diagnosis of anencephaly and spina bifida. (57018)
1976
42
Anencephaly, spina bifida and dizygotic twinning: a review of the data of Stevenson et al. (1091145)
1975
43
Some factors relating to intelligence in treated children with spina bifida cystica. (1107116)
1975
44
Prenatal diagnosis of spina bifida and anencephaly by maternal serum-alpha-fetoprotein measurement. A controlled study. (4132705)
1974
45
Statistical analysis of anencephaly, spina bifida and congenital hydrocephaly. (4616106)
1974
46
Incidence of spina bifida occulta in Andhra area in India. (4566430)
1972
47
Hypothesis: anencephaly and spina bifida are usually preventable by avoidance of a specific but unidentified substance present in certain potato tubers. (4558508)
1972
48
Anencephaly and spina bifida in the Province of Quebec. (4888983)
1969
49
Spina bifida occulta. (4898782)
1969
50
The management of spina bifida cystica. (5325657)
1966

Genetic Variations for Spina Bifida

Expression for genes affiliated with Spina Bifida

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Spina Bifida

Search GEO for disease gene expression data for Spina Bifida.

Pathways for genes affiliated with Spina Bifida

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome, 50PharmGKB, 12EMD Millipore
See all sources

Pathways related to Spina Bifida according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6MTRR, MTHFD1, MTHFR, MTR, BHMT, DHFR
2
Hide members
10.6MTRR, MTHFD1, MTHFR, MTR, DHFR, SLC19A1
3
Hide members
10.6DHFR, CBS, MTR, MTHFR, MTHFD1, MTRR
4
Hide members
10.6MTRR, MTR, BHMT, BHMT2, CBS
5
Hide members
10.6ALDH1A2, SLC19A1, DHFR, NAT2, NAT1
610.6CBS, MTR, MTHFR, CCL2
710.6MTRR, MTR, BHMT, CBS
8
Hide members
10.6MTR, BHMT, BHMT2, CBS
9
Hide members
10.6MTRR, MTR, NAT1, NAT2
10
Hide members
10.6MTR, MTHFR, MTHFD1
11
Hide members
10.5MTRR, MTR, CBS
1210.5BHMT2, BHMT, MTR
1310.5MTHFR, DHFR
1410.5MTR, CBS
15
Hide members
10.5SLC19A1, DHFR
1610.5BHMT2, BHMT
17
Hide members
10.5NAT2, NAT1
1810.5NAT2, NAT1
1910.5NAT2, NAT1

Compounds for genes affiliated with Spina Bifida

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 2BitterDB
See all sources

Compounds related to Spina Bifida according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1folate4511.2BHMT, CBS, NAT2, DHFR, SLC19A1, MTR
2homocysteine45 2412.2BHMT2, CBS, NAT1, NAT2, SLC19A1, CCL2
3methotrexate45 50 1113.2DHFR, NAT2, CBS, AFP, MTR, MTHFR
4thymidylate4511.1MTRR, MTHFD1, MTR, CBS, DHFR, SLC19A1
5vitamin b124511.1CCL2, MTRR, MTHFR, MTR, BHMT, CBS
6methionine4511.1SLC19A1, MTR, MTHFR, BHMT, CBS, FOLR1
7aspartate4511.1AFP, MTR, CCL2, PDGFRA, PCMT1, DHFR
8s-adenosylmethionine45 11 2413.1PCMT1, SLC19A1, BHMT, MTR, MTHFR, MTRR
9cystathionine4511.1MTR, MTHFR, MTRR, MTHFD1, BHMT, CBS
105-methyltetrahydrofolate45 1112.1MTR, MTHFR, FOLR1, MTRR, SLC19A1, CBS
11betaine45 2412.1BHMT, MTRR, MTHFR, MTR, CBS, BHMT2
1210-formyltetrahydrofolate4511.0MTHFD1, MTR, DHFR, MTHFR, SLC19A1
13cobalamin45 2412.0MTRR, CBS, MTR, MTHFR, MTHFD1
14purine45 2412.0MTHFD1, DHFR, MTR, SLC19A1, MTHFR, CBS
15tetrahydrofolate4511.0SLC19A1, MTRR, DHFR, MTHFR, MTR
16cisplatin45 50 60 1114.0FOLR1, MTHFR, MTR, AFP, DHFR, SLC19A1
17vitamin b64511.0CBS, MTR, BHMT, MTHFR, MTHFD1
18dihydrofolate4511.0SLC19A1, MTHFR, FOLR1, MTR, DHFR
195,10-methenyltetrahydrofolate4511.0MTHFD1, CBS, MTR, MTHFR
20b vitamins4511.0MTR, MTRR, CBS, MTHFR
21methylcobalamin45 2412.0MTHFR, CBS, MTR, MTRR
22s-adenosylhomocysteine45 2412.0PCMT1, CBS, MTR, MTHFR, MTRR
23Tetrahydrofolic acid11 2412.0MTR, MTHFD1, MTHFR, DHFR
24L-Methionine11 2412.0BHMT, MTR, BHMT2, MTRR
25serine4511.0BHMT, AFP, CCL2, CBS
26cysteine4511.0SLC19A1, NAT2, NAT1, MTHFR, MTR, CBS
27methylmalonic acid45 2411.9CBS, MTR, MTRR, MTHFR
28folic acid50 11 2412.9DHFR, SLC19A1, MTHFR, FOLR1
29sulfasalazine45 29 50 1113.9CCL2, NAT2, MTHFR, SLC19A1
30nadph45 2411.9CCL2, MTHFD1, MTHFR, MTRR, MTR, DHFR
31leucovorin45 50 1112.9DHFR, MTHFR, FOLR1, SLC19A1
32paba4510.9NAT1, NAT2, DHFR
33multivitamin4510.9DHFR, NAT1, MTHFR
34trimetrexate45 1111.9FOLR1, SLC19A1, DHFR
355fluorouracil4510.9DHFR, SLC19A1, AFP, MTHFR, CCL2
36hydroxocobalamin45 1111.9MTR, MTRR, MTHFR
37cyanocobalamin50 11 2412.9MTR, MTHFR, MTRR
38tomudex4510.8FOLR1, SLC19A1, DHFR
39sulfamethoxazole45 50 1112.8DHFR, NAT1, NAT2
405 aminosalicylic acid4510.8NAT2, NAT1, CCL2
41riboflavin45 11 2412.8BHMT, MTRR, MTHFR
42hydroxylamine4510.7NAT2, CBS, NAT1
43nitroarenes4510.7NAT1, NAT2
44pt 4304510.7DHFR, SLC19A1
45n-hydroxyarylamine4510.6NAT2, NAT1
46n-hydroxy-2-aminofluorene4510.6NAT2, NAT1
47methyl-group4510.5MTHFR, MTR
48pt5234510.5SLC19A1, DHFR
49dapsone2 45 50 1113.4DHFR, NAT2, NAT1
50paclitaxel45 50 1112.3DHFR, FOLR1, NAT1, AFP

GO Terms for genes affiliated with Spina Bifida

Sources:
16Gene Ontology
See all sources

Cellular components related to Spina Bifida according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00582910.7MTHFD1, MTHFR, MTR, BHMT, CBS, NAT1
2cytoplasmGO:00573710.5ALDH1A2, ZIC1, ZIC2, CCL2, PDGFRA, MTRR

Biological processes related to Spina Bifida according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:04428110.9MTRR, MTHFD1, MTHFR, MTR, BHMT, CBS
2methionine biosynthetic processGO:00908610.9BHMT2, BHMT, MTHFR, MTHFD1, MTRR
3water-soluble vitamin metabolic processGO:00676710.9MTRR, MTHFD1, MTHFR, MTR, SLC19A1
4folic acid metabolic processGO:04665510.9FOLR1, MTHFD1, MTHFR, SLC19A1
5vitamin metabolic processGO:00676610.9SLC19A1, MTR, MTHFR, MTHFD1, MTRR
6sulfur amino acid metabolic processGO:00009610.8MTRR, MTR, BHMT, CBS
7xenobiotic metabolic processGO:00680510.8MTRR, MTR, NAT1, NAT2
8cellular nitrogen compound metabolic processGO:03464110.7CBS, BHMT, MTR, MTRR
9homocysteine metabolic processGO:05066710.7MTHFR, CBS
10tetrahydrofolate interconversionGO:03599910.6MTHFR, MTHFD1
11folic acid transportGO:01588410.6SLC19A1, FOLR1
12SMAD protein signal transductionGO:06039510.5T, AFP
13protein methylationGO:00647910.5BHMT, PCMT1
14methylationGO:03225910.4MTR, MTRR
15signal transduction involved in regulation of gene expressionGO:02301910.2T, PDGFRA

Molecular functions related to Spina Bifida according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1homocysteine S-methyltransferase activityGO:00889810.6BHMT2, BHMT, MTR
2folic acid bindingGO:00554210.5SLC19A1, FOLR1
3betaine-homocysteine S-methyltransferase activityGO:04715010.5BHMT, BHMT2
4arylamine N-acetyltransferase activityGO:00406010.4NAT1, NAT2
5modified amino acid bindingGO:07234110.2CBS, MTHFR

Products for genes affiliated with Spina Bifida

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Sources for Spina Bifida

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet