MCID: CHR342
MIFTS: 42
|
Chiari Malformation
Categories:
Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases
|
|
|
MalaCards integrated aliases for Chiari Malformation:Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Neuronal diseases Ear diseases |
NINDS: 52 Chiari malformations (CMs) are structural defects in the base of the skull and the cerebellum, the part of the brain that controls balance. When part of the cerebellum extends through the natural opening at the base of the skull (called the foramen magnum), the cerebellum and brain stem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid, which is the watery liquid that surrounds and protects the brain and spinal cord. Symptoms may include: headache pain muscle weakness or numbness dizziness problems with hand coordination adn fine motor skills difficulty swallowing or sleeping hearing or balance problems problems with coordination CMs are caused mostly by structural defects in the brain and spinal cord that occur during fetal development, but they can also be casued by traumatic injury, infection, or disease. Types of CM are: Type l -- the most common form -- happens when the lower part of the creebellum (called the cerebellar tonsils) push into the foramen magnum. Type ll involved both the creebellum and brain stem pushing into the foramen magnum. Type II is usually accompanied by a myelomingocele -- in which a portion of the spinal cord or nerves is exposed in a sac through an opening in the spine that may or may not be covered by protective layers called the meninges Type III -- the most serious form -- has some of the cerebellum and the brain stem stick out, or herniate, through an abnormal opening in the back of the skull. Type IV involves an incomplete or underdeveloped cerebellum and portions of the skull and spinal cord may be visible. Other conditions sometimes associated with CM include hydrocephalus, syringomyelia (a fluid-filled cyst in the spinal cord), spina bifida, and spinal curvature. MalaCards based summary: Chiari Malformation is related to arachnoiditis and hydrocephalus. An important gene associated with Chiari Malformation is MBP (Myelin Basic Protein), and among its related pathways/superpathways are Signal Transduction and Phospholipase-C Pathway. The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, cerebellum and brain, and related phenotypes are nervous system and growth/size/body region MedlinePlus: 41 Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too small, which pushes the brain tissue down. There are several types of CM. One type often happens in children who have neural tube defects. Some types cause no symptoms and don't need treatment. If you have symptoms, they may include: Neck pain Balance problems Numbness or other abnormal feelings in the arms or legs Dizziness Vision problems Difficulty swallowing Poor hand coordination Doctors diagnose CM using imaging tests. Medicines may ease some symptoms, such as pain. Surgery is the only treatment available to correct or stop the progression of nerve damage. NIH: National Institute of Neurological Disorders and Stroke Wikipedia: 75 Chiari malformation (CM) is a structural defect in the cerebellum, characterized by a downward... more... |
MGI Mouse Phenotypes related to Chiari Malformation:45
|
Drugs for Chiari Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:(show all 23)
|
Organs/tissues related to Chiari Malformation:
MalaCards :
Spinal Cord,
Cerebellum,
Brain,
Heart,
Medulla Oblongata,
Tonsil,
Bone
|
Articles related to Chiari Malformation:(show top 50) (show all 2486)
|
ClinVar genetic disease variations for Chiari Malformation:5
|
Search
GEO
for disease gene expression data for Chiari Malformation.
|
Pathways related to Chiari Malformation according to GeneCards Suite gene sharing:(show all 17)
|
Cellular components related to Chiari Malformation according to GeneCards Suite gene sharing:
Biological processes related to Chiari Malformation according to GeneCards Suite gene sharing:
Molecular functions related to Chiari Malformation according to GeneCards Suite gene sharing:
|
|