MCID: CHR342
MIFTS: 45

Chiari Malformation

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Chiari Malformation

MalaCards integrated aliases for Chiari Malformation:

Name: Chiari Malformation 53 54 37 43
Arnold-Chiari Malformations 53
Arnold Chiari Malformation 53

Classifications:



External Ids:

KEGG 37 H01561

Summaries for Chiari Malformation

NINDS : 54 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 obstructive 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 valerate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and spinal cord, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 53 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 : 43 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 : 76 Chiari malformations (CMs) are structural defects in the cerebellum. They consist of 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 198)
# Related Disease Score Top Affiliating Genes
1 chiari malformation type i 34.0 BMP1 DKK1 LRP4
2 obstructive hydrocephalus 29.6 GFAP SYP
3 traumatic brain injury 29.5 GFAP MBP
4 brain injury 29.3 GFAP MBP
5 hydrocephalus 28.5 FGFR3 GFAP MBP SYP
6 dysembryoplastic neuroepithelial tumor 28.4 GFAP MAP2 SYP
7 chiari malformation type ii 12.7
8 chiari malformation type 3 12.3
9 chiari malformation type 4 12.1
10 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 12.0
11 syringohydromyelia 11.4
12 hydromyelia 11.4
13 syringomyelia 11.4
14 neural tube defects 11.3
15 central sleep apnea 11.3
16 syringomyelia, noncommunicating isolated 11.1
17 corpus callosum, agenesis of 11.1
18 hydrocephalus, nonsyndromic, autosomal recessive 1 10.9
19 crouzon syndrome with acanthosis nigricans 10.9
20 colpocephaly 10.9
21 congenital laryngeal palsy 10.9
22 craniofacial dyssynostosis 10.9
23 type i 10.7
24 scoliosis 10.3
25 hemimegalencephaly 10.2 GFAP MAP2
26 myelomeningocele 10.2
27 cervicitis 10.2
28 brain ischemia 10.2 GFAP MAP2
29 headache 10.1
30 sleep apnea 10.1
31 brain glioma 10.1 GFAP MAP2
32 occlusion precerebral artery 10.1 MAP2 MBP
33 craniosynostosis 10.1
34 tonsillitis 10.1
35 olivopontocerebellar atrophy 10.1 MAP2 MBP
36 carotid artery occlusion 10.0 MAP2 MBP
37 sleep disorder 10.0
38 scrapie 10.0 GFAP MAP2
39 juvenile pilocytic astrocytoma 10.0 GFAP MBP
40 arthropathy 9.9
41 intracranial hypertension 9.9
42 meningitis 9.9
43 dysphagia 9.9
44 neuromyelitis optica 9.9 GFAP MBP
45 desmoplastic infantile ganglioglioma 9.9 GFAP SYP
46 extraventricular neurocytoma 9.9 GFAP SYP
47 lung combined type small cell carcinoma 9.9 GFAP SYP
48 cellular ependymoma 9.9 GFAP SYP
49 papillary tumor of the pineal region 9.9 MAP2 SYP
50 gangliocytoma 9.9 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:

46
# 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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8
2
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
3
Polyestradiol phosphate Approved Phase 3 28014-46-2
4 Estradiol 17 beta-cypionate Phase 3
5 Estradiol 3-benzoate Phase 3
6 Contraceptive Agents Phase 3
7 Hormone Antagonists Phase 3
8 Hormones Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
10 Estrogens Phase 3
11 Antibodies
12 Immunoglobulins
13 Antibodies, Antiphospholipid

Interventional clinical trials:

(show all 18)
# 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 Chiari Study Looking at Use of Duragen Versus Duraguard Unknown status NCT00565435
4 Establishing the Physiology of Syringomyelia Completed NCT00001327
5 Centralized Reading Assessment of Chronic CerebroSpinal Venous Insufficiency (CCSVI) in Patients With Multiple Sclerosis and Other Neurological Diseases Completed NCT02308579
6 Arnold Chiari Malformation: the Otological Assessment as an Objective Criteria for Surgical Treatment Recruiting NCT03295864 Not Applicable
7 Dural Graft Equivalent Comparison Trial Recruiting NCT01667770 Not Applicable
8 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Recruiting NCT02669836 Not Applicable
9 Genetic Analysis of the Chiari I Malformation Recruiting NCT00004738
10 A Prospective Natural History Study of Patients With Syringomyelia Recruiting NCT01150708
11 Prenatal Surgical Repair of Fetal Myelomeningocele Recruiting NCT01983345 Not Applicable
12 Fetoscopic Repair of Isolated Fetal Spina Bifida Recruiting NCT03090633 Not Applicable
13 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637 Not Applicable
14 Dynamic MRI and Quantitative MR CSF Flow Studies in Craniovertebral Junction Anomalies Active, not recruiting NCT00795080
15 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Active, not recruiting NCT03544970
16 The Genetics of Chiari Type I Malformation Active, not recruiting NCT01060800
17 Comparison of Four Questionnaires for OSA Screening in China Not yet recruiting NCT03074747
18 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:

41
Brain, Cerebellum, Spinal Cord, Tonsil, Testes, Pituitary, Bone

Publications for Chiari Malformation

Articles related to Chiari Malformation:

(show top 50) (show all 422)
# Title Authors Year
1
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
2
Spinning, hurting, still, afraid: Living life spaces with Type I Chiari Malformation. ( 29395547 )
2018
3
Morphometric analysis of posterior fossa and craniovertebral junction in subtypes of Chiari malformation. ( 29587156 )
2018
4
Novel Assessment of Cerebrospinal Fluid Dynamics by Time-Spatial Labeling Inversion Pulse Magnetic Resonance Imaging in Patients with Chiari Malformation Type I. ( 29325958 )
2018
5
Epidemiology of Symptomatic Chiari Malformation in Tatarstan: Regional and Ethnic Differences in Prevalence. ( 29788393 )
2018
6
Delayed neurological deterioration following atlantoaxial facet joint distraction and fixation in a patient with Chiari malformation type I. ( 29303466 )
2018
7
Effect of Posterior Fossa Decompression for Chiari Malformation-I on Scoliosis. ( 29298440 )
2018
8
Morphometric and volumetric comparison of 102 children with symptomatic and asymptomatic Chiari malformation Type I. ( 29125445 )
2018
9
Type I Chiari Malformation Presenting in an Adult. ( 29895578 )
2018
10
Autologous cervical fascia duraplasty in 123 children and adults with Chiari malformation type I: surgical technique and complications. ( 29932369 )
2018
11
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
12
Syringobulbia in pediatric patients with Chiari malformation type I. ( 29701558 )
2018
13
Chiari Malformation and Hydrocephalus Masking Neurocysticercosis. ( 29545224 )
2018
14
Sphenopalatine Ganglion Block Successfully Treats Migraines in a Type 1 Arnold Chiari Malformation Pregnant Patient: A Case Report. ( 29634560 )
2018
15
Electroconvulsive therapy and type 1 Chiari malformation. ( 29547754 )
2018
16
Primary Extradural Meningioma of Posterior Fossa Associated with Acquired Chiari Malformation: A Short Review. ( 29682049 )
2018
17
Evaluation of Soft Tissue Hypertrophy at the Retro-Odontoid Space in Patients with Chiari Malformation Type I on Magnetic Resonance Imaging. ( 29870844 )
2018
18
A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformity. ( 29410707 )
2018
19
Clinical Notes on Chiari Malformation. ( 29543678 )
2018
20
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
21
Acute exacerbation of Chiari malformation: A rare cause for non-awakening from anaesthesia. ( 29643564 )
2018
22
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
23
Time to Resolution of Symptoms After Suboccipital Decompression with Duraplasty in Children with Chiari Malformation Type I. ( 29933088 )
2018
24
An Electrophysiological Study of Cognitive and Emotion Processing in Type I Chiari Malformation. ( 29383659 )
2018
25
Cognitive Functioning in Chiari Malformation Type I Without Posterior Fossa Surgery. ( 29766459 )
2018
26
Chiari malformation type 1 presenting as unilateral progressive foot drop: a case report and review of literature. ( 29415676 )
2018
27
Efficacy of Posterior Fossa Decompression with Duraplasty for Patients with Chiari Malformation Type I: A Systematic Review and Meta-Analysis. ( 29482005 )
2018
28
The effect of posterior fossa decompression in adult Chiari malformation and basilar invagination: a systematic review and meta-analysis. ( 28466256 )
2018
29
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
30
Author Correction: Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation. ( 29728620 )
2018
31
Chiari malformation and tuberculous meningitis: aetiology and management. ( 29622715 )
2018
32
Successful Treatment With Electroconvulsive Therapy of a Patient With Chiari Malformation Type I. ( 29952861 )
2018
33
Chiari decompression outcomes using ligamentum nuchae harvest and duraplasty in pediatric patients with Chiari malformation type I. ( 29652242 )
2018
34
Clinical characteristics of neurogenic dysphagia in adult patients with Chiari malformation type I. ( 28416844 )
2017
35
Unilateral blue rubber bleb naevus syndrome with Chiari malformation. ( 28054370 )
2017
36
Cardiovascular risk factors in Chiari malformation and idiopathic intracranial hypertension. ( 28523220 )
2017
37
Resolution of tachyarrhythmia following posterior fossa decompression surgery for chiari malformation type I: A case report. ( 29288861 )
2017
38
Long term outcome of surgical treatment of Chiari Malformation without syringomyelia. ( 28677937 )
2017
39
Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach. ( 27729302 )
2017
40
Headache, Chiari malformation type 1 and treatment options. ( 28082322 )
2017
41
Endoscopic Management of Arnold-Chiari Malformation Type I with or without Syringomyelia. ( 28586935 )
2017
42
No significant difference between chiari malformation type 1.5 and type I. ( 28384597 )
2017
43
Sleep Disordered Breathing and Magnetic Resonance Imaging Findings in Children With Chiari Malformation Type I. ( 28943363 )
2017
44
Comparison of posterior fossa decompression with and without duraplasty for the surgical treatment of Chiari malformation type I in adult patients: A retrospective analysis of 103 patients. ( 28121938 )
2017
45
Transoral Decompression and Anterior Stabilization of Atlantoaxial Joint in Patients with Basilar Impression and Chiari Malformation Type I: A Technical Report of 2 Clinical Cases. ( 28279770 )
2017
46
Quality of life in individuals affected by Arnold Chiari malformation: comparison and validation of a measurement instrument. ( 29173189 )
2017
47
Surgical decompression for Chiari malformation type I: An age-based outcomes study based on the Chicago Chiari Outcome Scale. ( 28804039 )
2017
48
Delayed Retroclival and Cervical Spinal Subdural Hematoma Complicated by Preexisting Chiari Malformation in Adult Trauma Patient. ( 28647656 )
2017
49
Comparison of posterior fossa volumes and clinical outcomes after decompression of Chiari malformation Type I. ( 28291422 )
2017
50
Pediatric Chiari malformation type I: long-term outcomes following small-bone-window posterior fossa decompression with autologous-fascia duraplasty. ( 29285106 )
2017

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 neuronal cell body GO:0043025 9.13 LRP4 MAP2 MBP
2 neuromuscular junction GO:0031594 8.62 LRP4 SYP

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of Wnt signaling pathway GO:0030178 9.4 DKK1 LRP4
2 embryonic limb morphogenesis GO:0030326 9.37 DKK1 LRP4
3 cellular response to organic substance GO:0071310 9.32 MAP2 SYP
4 dendrite morphogenesis GO:0048813 9.26 LRP4 MAP2
5 limb development GO:0060173 9.16 DKK1 LRP4
6 hair follicle development GO:0001942 8.96 DKK1 LRP4
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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