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MCID: SPN038
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Spina Bifida malady |
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Sources: 30NIH Rare Diseases, 23MedlinePlus, 2CDC, 31NINDS, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NINDS: 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).31
MalaCards: Spina Bifida, also known as rachischisis, is related to myelomeningocele and neural tube defect. An important gene associated with Spina Bifida is AFP (alpha-fetoprotein), and among its related pathways are Methylation and Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics. The compounds folic acid and 5-methyltetrahydrofolate have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, and related mouse phenotypes are respiratory system and hearing/vestibular/ear. NIH Rare Diseases: 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.30 MedlinePlus: Spina bifida is the most common disabling birth defect in the united states. it is a type of neural tube defect, which is a problem with the spinal cord or its coverings. it happens if the fetal spinal column doesn't close completely during the first month of pregnancy. there is usually nerve damage that causes at least some paralysis of the legs. many people with spina bifida will 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. there is no cure. treatments focus on the complications, and can include surgery, medicine and physiotherapy. 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 stroke23 CDC: 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. 2 Genetics Home Reference: 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).17 Wikipedia: Spina bifida (Latin: \"split spine\") is a developmental congenital disorder caused by the incomplete...44 more... OMIM: 182940 |
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Sources: 2CDC, 30NIH Rare Diseases, 6Disease Ontology, 7diseasecard, 17Genetics Home Reference, 31NINDS, 8DISEASES, 33OMIM, 32Novoseek , 23MedlinePlus See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 182940
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-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 |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to spina bifida:22Brain, Spinal cord, Heart, Skin, T cells, Endothelial, Fetal brain
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to spina bifida:25 (show all 28)
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Sources: 35PubMed See all sources |
Articles related to spina bifida:(show top 50) (show all 86)
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Sources: 1BioGPS See all sources |
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Sources: 38Reactome, 34PharmGKB, 20KEGG, 10EMD Millipore, 41Thomson Reuters, 36QIAGEN See all sources |
Pathways related to spina bifida according to GeneDecks:(show all 23)
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Sources: 34PharmGKB, 9DrugBank, 18HMDB, 32Novoseek , 42Tocris Bioscience See all sources |
Compounds related to spina bifida according to GeneDecks:(show top 50) (show all 208)
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Sources: 12Gene Ontology See all sources |
Cellular components related to spina bifida according to GeneDecks:
Biological processes related to spina bifida according to GeneDecks:(show all 36)
Molecular functions related to spina bifida according to GeneDecks:(show all 18)
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