MCID: CHR342
MIFTS: 46

Chiari Malformation

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chiari Malformation

MalaCards integrated aliases for Chiari Malformation:

Name: Chiari Malformation 54 55 38 44
Arnold-Chiari Malformations 54
Arnold Chiari Malformation 54

Classifications:



External Ids:

KEGG 38 H01561

Summaries for Chiari Malformation

NINDS : 55 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 opening at the base of the skull, the cerebellum and brain stem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (CSF, the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, headache, and problems with hearing, balance, and coordination. Symptoms may change for some individuals depending on buildup of CSF and any resulting pressure on tissue and nerves. CMs are classified by the severity of the disorder and the parts of the brain that protrude into the spinal canal. The most common is Type I, which may not cause symptoms and is often found by accident during an examination for another condition. Type II (also called classic CM and Arnold-Chiari malformation) is usually accompanied by a myelomeningocele--a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord to protrude through an opening in the back. This can cause partial or complete paralysis below the spinal opening. Symptoms of Type III--the most serious form of CM--include those seen in Type II, in addition to additional severe neurological defects. In CM Type IV, parts of the creebellum are missing, and portions of the spinal cord may be visible. Other conditions sometimes associated with CM include hydrocephalus, syringomyelia (a fluid-filled cyst in the spinal cord), and spinal curvature.

MalaCards based summary : Chiari Malformation, also known as arnold-chiari malformations, is related to chiari malformation type i and hydrocephalus. An important gene associated with Chiari Malformation is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Neuroscience and Neural Crest Differentiation. The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, brain and spinal cord, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 54 Chiari malformations are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. The exact cause is still unknown. In some cases of Chiari Malformation type 1, genetic factors may be involved. Treatment may require surgery.There are four types of Chiari malformations classified according to the degree of severity, with type 1 being the most common and least severe: Chiari malformation type 1Chiari malformation type 2Chiari malformation type 3Chiari malformation type 4 Some researchers add a type 0 to the classification, which is characterized by no or very little herniation of the cerebellum.

MedlinePlus : 44 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 : 77 Chiari malformation (CM) is a structural defect in the cerebellum, characterized by a downward... more...

Related Diseases for Chiari Malformation

Diseases in the Chiari Malformation family:

Chiari Malformation Type I Chiari Malformation Type Ii
Chiari Malformation Type 3 Chiari Malformation Type 4

Diseases related to Chiari Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 247)
# Related Disease Score Top Affiliating Genes
1 chiari malformation type i 34.0 BMP1 DKK1 LRP4
2 hydrocephalus 30.3 FGFR3 GFAP MBP SYP
3 obstructive hydrocephalus 30.3 GFAP SYP
4 traumatic brain injury 29.9 GFAP MBP
5 brain injury 29.9 GFAP MBP
6 dysembryoplastic neuroepithelial tumor 29.3 GFAP MAP2 SYP
7 chiari malformation type ii 12.9
8 chiari malformation type 3 12.4
9 chiari malformation type 4 12.3
10 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 12.2
11 syringomyelia 11.6
12 syringohydromyelia 11.6
13 hydromyelia 11.6
14 neural tube defects 11.5
15 central sleep apnea 11.4
16 intracranial hypotension 11.4
17 hydrocephalus, congenital, 1 11.4
18 syringomyelia, noncommunicating isolated 11.2
19 corpus callosum, agenesis of 11.2
20 crouzon syndrome with acanthosis nigricans 11.1
21 colpocephaly 11.1
22 congenital laryngeal palsy 11.1
23 craniofacial dyssynostosis 11.1
24 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor 10.8
25 scoliosis 10.5
26 myelomeningocele 10.4
27 headache 10.4
28 sleep apnea 10.4
29 pathologic nystagmus 10.3
30 respiratory failure 10.3
31 craniosynostosis 10.2
32 desmoplastic infantile ganglioglioma 10.2 GFAP SYP
33 extraventricular neurocytoma 10.2 GFAP SYP
34 lung combined type small cell carcinoma 10.2 GFAP SYP
35 cellular ependymoma 10.2 GFAP SYP
36 ependymoma 10.2 GFAP SYP
37 chordoid meningioma 10.2 GFAP SYP
38 central nervous system primitive neuroectodermal neoplasm 10.2 GFAP SYP
39 clear cell ependymoma 10.2 GFAP SYP
40 cerebral neuroblastoma 10.2 GFAP SYP
41 subependymal glioma 10.2 GFAP SYP
42 astroblastoma 10.2 GFAP SYP
43 cerebral ventricle cancer 10.2 GFAP SYP
44 pineal gland cancer 10.2 GFAP SYP
45 melanotic neuroectodermal tumor 10.2 GFAP SYP
46 benign ependymoma 10.2 GFAP SYP
47 arthropathy 10.2
48 angiocentric glioma 10.2 GFAP SYP
49 medulloepithelioma 10.2 GFAP SYP
50 pineocytoma 10.2 GFAP SYP

Graphical network of the top 20 diseases related to Chiari Malformation:



Diseases related to Chiari Malformation

Symptoms & Phenotypes for Chiari Malformation

MGI Mouse Phenotypes related to Chiari Malformation:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 FGFR3 GFAP LRP4 MAP2 MBP SYP
2 growth/size/body region MP:0005378 9.8 BMP1 DKK1 FGFR3 GFAP LRP4 MAP2
3 mortality/aging MP:0010768 9.5 BMP1 DKK1 FGFR3 GFAP LRP4 MAP2
4 limbs/digits/tail MP:0005371 9.46 BMP1 DKK1 FGFR3 LRP4
5 nervous system MP:0003631 9.17 DKK1 FGFR3 GFAP LRP4 MAP2 MBP

Drugs & Therapeutics for Chiari Malformation

Drugs for Chiari Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 3 28014-46-2
3 Estradiol 17 beta-cypionate Phase 3
4 Estradiol 3-benzoate Phase 3
5 Contraceptive Agents Phase 3
6 Hormones Phase 3
7 Hormone Antagonists Phase 3
8 Estrogens Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
10 Antibodies
11 Antibodies, Antiphospholipid
12 Immunoglobulins

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Duragen Versus Duraguard in Chiari Surgery Completed NCT00741858 Phase 3
2 Efficacy of Acetaminophen in Posterior Fossa Surgery Withdrawn NCT02532322 Phase 2 IV acetaminophen;normal saline
3 Dural Graft Equivalent Comparison Trial Unknown status NCT01667770 Not Applicable
4 Chiari Study Looking at Use of Duragen Versus Duraguard Unknown status NCT00565435
5 Comparison of Four Questionnaires for OSA Screening in China Unknown status NCT03074747
6 Establishing the Physiology of Syringomyelia Completed NCT00001327
7 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
8 Centralized Reading Assessment of Chronic CerebroSpinal Venous Insufficiency (CCSVI) in Patients With Multiple Sclerosis and Other Neurological Diseases Completed NCT02308579
9 Arnold Chiari Malformation: the Otological Assessment as an Objective Criteria for Surgical Treatment Recruiting NCT03295864 Not Applicable
10 Genetic Analysis of the Chiari I Malformation Recruiting NCT00004738
11 A Prospective Natural History Study of Patients With Syringomyelia Recruiting NCT01150708
12 Laparotomy Versus Percutaneous Endoscopic Correction of Myelomeningocele Recruiting NCT03856034 Not Applicable
13 Prenatal Surgical Repair of Fetal Myelomeningocele Recruiting NCT01983345 Not Applicable
14 Fetoscopic Repair of Isolated Fetal Spina Bifida Recruiting NCT03090633 Not Applicable
15 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637 Not Applicable
16 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Active, not recruiting NCT02669836 Not Applicable
17 The Genetics of Chiari Type I Malformation Active, not recruiting NCT01060800
18 Dynamic MRI and Quantitative MR CSF Flow Studies in Craniovertebral Junction Anomalies Enrolling by invitation NCT00795080
19 Biomarkers in Blood Samples From Young Patients With Newly Diagnosed Brain Tumors Undergoing Standard Radiation Therapy and Chemotherapy Withdrawn NCT01233479 Not Applicable systemic chemotherapy

Search NIH Clinical Center for Chiari Malformation

Genetic Tests for Chiari Malformation

Anatomical Context for Chiari Malformation

MalaCards organs/tissues related to Chiari Malformation:

42
Cerebellum, Brain, Spinal Cord, Heart, Tonsil, Testes, Bone

Publications for Chiari Malformation

Articles related to Chiari Malformation:

(show top 50) (show all 899)
# Title Authors Year
1
Unexpected Progression of Tonsillar Herniation in Two Pediatric Cases with Chiari Malformation Type I and Review of the Literature. ( 30580335 )
2019
2
The Relationship Between Basilar Invagination and Chiari Malformation Type I: A Narrative Review. ( 30610310 )
2019
3
Bony Decompression for Chiari Malformation Type I: Long-Term Follow-Up. ( 30610311 )
2019
4
Surgical Treatment in Symptomatic Chiari Malformation Type I: A Series of 25 Adult Patients Treated with Cerebellar Tonsil Shrinkage. ( 30610312 )
2019
5
Development of Common Data Elements for Use in Chiari Malformation Type I Clinical Research: An NIH/NINDS Project. ( 30690581 )
2019
6
Posterior fossa decompression for Chiari malformation type I: clinical and radiological presentation, outcome and complications in a retrospective series of 105 procedures. ( 30737652 )
2019
7
Neurocognitive Functioning in Unoperated Adults with Chiari Malformation Type I. ( 30831298 )
2019
8
Posterior Fossa Decompression With or Without Duraplasty in the Treatment of Paediatric Chiari Malformation Type I: A Literature Review and Meta-Analysis. ( 30903142 )
2019
9
The Role of Arachnoid Veils in Chiari Malformation Associated with Syringomyelia. ( 30610308 )
2019
10
Surgical Treatment of Chiari Malformation in Adults: Comparison of Surgical Techniques Described in the Literature and Our Experience. ( 30610314 )
2019
11
Shunt dependency syndrome and acquired Chiari malformation secondary to cerebrospinal fluid diversion procedures: a 9-year longitudinal observation. ( 30610474 )
2019
12
Perverted Downward Corrective Saccades During Horizontal Head Impulses in Chiari Malformation. ( 30610539 )
2019
13
A Conditional Inference Tree Model for Predicting Sleep-Related Breathing Disorders in Patients With Chiari Malformation Type 1: Description and External Validation. ( 30621833 )
2019
14
Letter to the Editor. Epidural blood patch reversing acquired Chiari malformation due to chronic CSF leak. ( 30660110 )
2019
15
Encysted hydrocele of the canal of Nuck in an 11-month-old child with a past history of duodenal atresia and Arnold-Chiari malformation: A case report. ( 30681605 )
2019
16
Clinical deterioration despite syringomyelia resolution after successful foramen magnum decompression for Chiari malformation - Case series. ( 30683486 )
2019
17
Intravenous Sedation in Arnold-Chiari Malformation With Respiratory Failure. ( 30883227 )
2019
18
Relationship of Morphologic Changes in the Brain and Spinal Cord and Disease Symptoms with Cerebrospinal Fluid Hydrodynamic Changes in Patients with Chiari Malformation Type I. ( 29803060 )
2018
19
Spinning, hurting, still, afraid: Living life spaces with Type I Chiari Malformation. ( 29395547 )
2018
20
Morphometric analysis of posterior fossa and craniovertebral junction in subtypes of Chiari malformation. ( 29587156 )
2018
21
Novel Assessment of Cerebrospinal Fluid Dynamics by Time-Spatial Labeling Inversion Pulse Magnetic Resonance Imaging in Patients with Chiari Malformation Type I. ( 29325958 )
2018
22
Epidemiology of Symptomatic Chiari Malformation in Tatarstan: Regional and Ethnic Differences in Prevalence. ( 29788393 )
2018
23
Delayed neurological deterioration following atlantoaxial facet joint distraction and fixation in a patient with Chiari malformation type I. ( 29303466 )
2018
24
Effect of Posterior Fossa Decompression for Chiari Malformation-I on Scoliosis. ( 29298440 )
2018
25
Morphometric and volumetric comparison of 102 children with symptomatic and asymptomatic Chiari malformation Type I. ( 29125445 )
2018
26
Type I Chiari Malformation Presenting in an Adult. ( 29895578 )
2018
27
Autologous cervical fascia duraplasty in 123 children and adults with Chiari malformation type I: surgical technique and complications. ( 29932369 )
2018
28
A points-based algorithm for prognosticating clinical outcome of Chiari malformation Type I with syringomyelia: results from a predictive model analysis of 82 surgically managed adult patients. ( 29125433 )
2018
29
Syringobulbia in pediatric patients with Chiari malformation type I. ( 29701558 )
2018
30
Chiari Malformation and Hydrocephalus Masking Neurocysticercosis. ( 29545224 )
2018
31
Sphenopalatine Ganglion Block Successfully Treats Migraines in a Type 1 Arnold Chiari Malformation Pregnant Patient: A Case Report. ( 29634560 )
2018
32
Electroconvulsive therapy and type 1 Chiari malformation. ( 29547754 )
2018
33
Primary Extradural Meningioma of Posterior Fossa Associated with Acquired Chiari Malformation: A Short Review. ( 29682049 )
2018
34
Evaluation of Soft Tissue Hypertrophy at the Retro-Odontoid Space in Patients with Chiari Malformation Type I on Magnetic Resonance Imaging. ( 29870844 )
2018
35
A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformity. ( 29410707 )
2018
36
Clinical Notes on Chiari Malformation. ( 29543678 )
2018
37
Erratum. The addition of duraplasty to posterior fossa decompression in the surgical treatment of pediatric Chiari malformation Type I: a systematic review and meta-analysis of surgical and performance outcomes. ( 29125448 )
2018
38
Acute exacerbation of Chiari malformation: A rare cause for non-awakening from anaesthesia. ( 29643564 )
2018
39
Cardiac-Related Spinal Cord Tissue Motion at the Foramen Magnum is Increased in Patients with Type I Chiari Malformation and Decreases Postdecompression Surgery. ( 29733988 )
2018
40
Time to Resolution of Symptoms After Suboccipital Decompression with Duraplasty in Children with Chiari Malformation Type I. ( 29933088 )
2018
41
An Electrophysiological Study of Cognitive and Emotion Processing in Type I Chiari Malformation. ( 29383659 )
2018
42
Cognitive Functioning in Chiari Malformation Type I Without Posterior Fossa Surgery. ( 29766459 )
2018
43
Chiari malformation type 1 presenting as unilateral progressive foot drop: a case report and review of literature. ( 29415676 )
2018
44
Efficacy of Posterior Fossa Decompression with Duraplasty for Patients with Chiari Malformation Type I: A Systematic Review and Meta-Analysis. ( 29482005 )
2018
45
The effect of posterior fossa decompression in adult Chiari malformation and basilar invagination: a systematic review and meta-analysis. ( 28466256 )
2018
46
Comparison of Results Between Posterior Fossa Decompression with and without Duraplasty for the Surgical Treatment of Chiari Malformation Type I: A Systematic Review and Meta-Analysis. ( 29138073 )
2018
47
Author Correction: Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation. ( 29728620 )
2018
48
Chiari malformation and tuberculous meningitis: aetiology and management. ( 29622715 )
2018
49
Successful Treatment With Electroconvulsive Therapy of a Patient With Chiari Malformation Type I. ( 29952861 )
2018
50
Chiari decompression outcomes using ligamentum nuchae harvest and duraplasty in pediatric patients with Chiari malformation type I. ( 29652242 )
2018

Variations for Chiari Malformation

Expression for Chiari Malformation

Search GEO for disease gene expression data for Chiari Malformation.

Pathways for Chiari Malformation

Pathways related to Chiari Malformation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.79 GFAP MAP2 MBP SYP
2 11.34 FGFR3 GFAP MBP
3 10.98 BMP1 DKK1
4 10.82 FGFR3 GFAP MAP2 SYP

GO Terms for Chiari Malformation

Cellular components related to Chiari Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular junction GO:0031594 8.96 LRP4 SYP
2 neuronal cell body GO:0043025 8.8 LRP4 MAP2 MBP

Biological processes related to Chiari Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryonic limb morphogenesis GO:0030326 9.4 DKK1 LRP4
2 negative regulation of Wnt signaling pathway GO:0030178 9.37 DKK1 LRP4
3 cellular response to organic substance GO:0071310 9.32 MAP2 SYP
4 limb development GO:0060173 9.26 DKK1 LRP4
5 hair follicle development GO:0001942 9.16 DKK1 LRP4
6 dendrite morphogenesis GO:0048813 8.96 LRP4 MAP2
7 negative regulation of ossification GO:0030279 8.62 DKK1 LRP4

Molecular functions related to Chiari Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.92 BMP1 FGFR3 GFAP SYP

Sources for Chiari Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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