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 cerebellum 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 Polyestradiol phosphate 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 : 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 253)
# Related Disease Score Top Affiliating Genes
1 chiari malformation type i 34.0 BMP1 DKK1 LRP4
2 obstructive hydrocephalus 30.5 GFAP SYP
3 hydrocephalus 30.4 FGFR3 GFAP MBP 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 11.5
16 hydrocephalus, congenital, 1 11.4
17 intracranial hypotension 11.4
18 syringomyelia, noncommunicating isolated 11.3
19 corpus callosum, agenesis of 11.3
20 crouzon syndrome with acanthosis nigricans 11.1
21 colpocephaly 11.1
22 congenital laryngeal palsy 11.1
23 craniofacial dyssynostosis 11.1
24 scoliosis 10.5
25 myelomeningocele 10.4
26 headache 10.4
27 sleep apnea 10.4
28 pathologic nystagmus 10.4
29 congenital hydrocephalus 10.4
30 respiratory failure 10.3
31 desmoplastic infantile ganglioglioma 10.3 GFAP SYP
32 extraventricular neurocytoma 10.3 GFAP SYP
33 craniosynostosis 10.3
34 lung combined type small cell carcinoma 10.3 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 angiocentric glioma 10.2 GFAP SYP
48 medulloepithelioma 10.2 GFAP SYP
49 pineocytoma 10.2 GFAP SYP
50 subependymoma 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
Polyestradiol phosphate Approved Phase 3 28014-46-2
2
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
3 Hormones Phase 3
4 Estradiol 3-benzoate Phase 3
5 Contraceptive Agents Phase 3
6 Estradiol 17 beta-cypionate Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
8 Estrogens Phase 3
9 Hormone Antagonists Phase 3
10 Antibodies
11 Antibodies, Antiphospholipid
12 Immunoglobulins

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 Dural Graft Equivalent Comparison Trial Unknown status NCT01667770 Not Applicable
4 Comparison of Four Questionnaires for OSA Screening in China Unknown status NCT03074747
5 Establishing the Physiology of Syringomyelia Completed NCT00001327
6 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
7 Centralized Reading Assessment of Chronic CerebroSpinal Venous Insufficiency (CCSVI) in Patients With Multiple Sclerosis and Other Neurological Diseases Completed NCT02308579
8 Arnold Chiari Malformation: the Otological Assessment as an Objective Criteria for Surgical Treatment Recruiting NCT03295864 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 Laparotomy Versus Percutaneous Endoscopic Correction of Myelomeningocele Recruiting NCT03856034 Not Applicable
12 Prenatal Surgical Repair of Fetal Myelomeningocele Recruiting NCT01983345 Not Applicable
13 Fetoscopic Repair of Isolated Fetal Spina Bifida Recruiting NCT03090633 Not Applicable
14 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637 Not Applicable
15 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Active, not recruiting NCT02669836 Not Applicable
16 The Genetics of Chiari Type I Malformation Active, not recruiting NCT01060800
17 Dynamic MRI and Quantitative MR CSF Flow Studies in Craniovertebral Junction Anomalies Enrolling by invitation NCT00795080
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:

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

Publications for Chiari Malformation

Articles related to Chiari Malformation:

(show top 50) (show all 923)
# Title Authors Year
1
Epidemiology of Symptomatic Chiari Malformation in Tatarstan: Regional and Ethnic Differences in Prevalence. ( 29788393 )
2019
2
Successful Treatment With Electroconvulsive Therapy of a Patient With Chiari Malformation Type I. ( 29952861 )
2019
3
Clinical Significance of Variable Clivus Gradients in Patients with Chiari Malformation Type I After Surgical Decompression: A Retrospective Analysis. ( 30347304 )
2019
4
Anesthetic management of parturients with Arnold Chiari malformation-I: a multicenter retrospective study. ( 30414718 )
2019
5
Dynamic Cerebellar Tonsils in Chiari Malformation. ( 30528573 )
2019
6
Quantification of Cerebellar Crowding in Type I Chiari Malformation. ( 30535814 )
2019
7
Unexpected Progression of Tonsillar Herniation in Two Pediatric Cases with Chiari Malformation Type I and Review of the Literature. ( 30580335 )
2019
8
The Role of Arachnoid Veils in Chiari Malformation Associated with Syringomyelia. ( 30610308 )
2019
9
The Relationship Between Basilar Invagination and Chiari Malformation Type I: A Narrative Review. ( 30610310 )
2019
10
Bony Decompression for Chiari Malformation Type I: Long-Term Follow-Up. ( 30610311 )
2019
11
Surgical Treatment in Symptomatic Chiari Malformation Type I: A Series of 25 Adult Patients Treated with Cerebellar Tonsil Shrinkage. ( 30610312 )
2019
12
Surgical Treatment of Chiari Malformation in Adults: Comparison of Surgical Techniques Described in the Literature and Our Experience. ( 30610314 )
2019
13
Shunt dependency syndrome and acquired Chiari malformation secondary to cerebrospinal fluid diversion procedures: a 9-year longitudinal observation. ( 30610474 )
2019
14
Perverted Downward Corrective Saccades During Horizontal Head Impulses in Chiari Malformation. ( 30610539 )
2019
15
A Conditional Inference Tree Model for Predicting Sleep-Related Breathing Disorders in Patients With Chiari Malformation Type 1: Description and External Validation. ( 30621833 )
2019
16
Letter to the Editor. Epidural blood patch reversing acquired Chiari malformation due to chronic CSF leak. ( 30660110 )
2019
17
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
18
Clinical deterioration despite syringomyelia resolution after successful foramen magnum decompression for Chiari malformation - Case series. ( 30683486 )
2019
19
Development of Common Data Elements for Use in Chiari Malformation Type I Clinical Research: An NIH/NINDS Project. ( 30690581 )
2019
20
Posterior fossa decompression for Chiari malformation type I: clinical and radiological presentation, outcome and complications in a retrospective series of 105 procedures. ( 30737652 )
2019
21
Neurocognitive Functioning in Unoperated Adults with Chiari Malformation Type I. ( 30831298 )
2019
22
Intravenous Sedation in Arnold-Chiari Malformation With Respiratory Failure. ( 30883227 )
2019
23
Heterotopic ossification following suboccipital craniectomy decompression surgery for Chiari malformation type I: case report. ( 30925477 )
2019
24
Headache in Chiari Malformation. ( 30926114 )
2019
25
Headache and Chiari Malformation. ( 30926120 )
2019
26
Basilar invagination associated with chiari malformation type I: A literature review. ( 30970117 )
2019
27
Posterior Fossa Decompression With or Without Duraplasty in the Treatment of Paediatric Chiari Malformation Type I: A Literature Review and Meta-Analysis. ( 30982914 )
2019
28
Syringobulbia in Patients with Chiari Malformation Type I: A Systematic Review. ( 31016190 )
2019
29
Statistical Shape Analysis of Cerebellum in Patients With Chiari Malformation I. ( 31033761 )
2019
30
AQP1 Overexpression in the CSF of Obstructive Hydrocephalus and Inversion of Its Polarity in the Choroid Plexus of a Chiari Malformation Type II Case. ( 31039249 )
2019
31
Use of minimally invasive tubular retractors for foramen magnum decompression of Chiari malformation: A technical note and case series. ( 31048052 )
2019
32
Craniometric Analysis of Skullbase With Magnetic Resonance Imaging in Patients With Chiari Malformation. ( 31048611 )
2019
33
Predictive value of posterior cranial fossa morphology in the decompression of Chiari malformation type I: A retrospective observational study. ( 31083202 )
2019
34
Type I Chiari malformation, RBANS performance, and brain morphology: Connecting the dots on cognition and macrolevel brain structure. ( 31094552 )
2019
35
Craniometrical imaging and clinical findings of adult Chiari malformation type 1 before and after posterior fossa decompression surgery with duraplasty. ( 31096790 )
2019
36
Can the Etiopathogenesis of Chiari Malformation be Craniocervical Junction Stabilization Difference? A Morphometric Analysis of Craniocervical Junction Ligaments. ( 31103770 )
2019
37
Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population. ( 31105263 )
2019
38
Posterior Fossa Decompression With or Without Duraplasty in the Treatment of Paediatric Chiari Malformation Type I: A Literature Review and Meta-Analysis. ( 30903142 )
2019
39
A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformity. ( 29410707 )
2018
40
Chiari malformation type 1 presenting as unilateral progressive foot drop: a case report and review of literature. ( 29415676 )
2018
41
Efficacy of Posterior Fossa Decompression with Duraplasty for Patients with Chiari Malformation Type I: A Systematic Review and Meta-Analysis. ( 29482005 )
2018
42
Clinical Notes on Chiari Malformation. ( 29543678 )
2018
43
Chiari Malformation and Hydrocephalus Masking Neurocysticercosis. ( 29545224 )
2018
44
Electroconvulsive therapy and type 1 Chiari malformation. ( 29547754 )
2018
45
Morphometric analysis of posterior fossa and craniovertebral junction in subtypes of Chiari malformation. ( 29587156 )
2018
46
Chiari malformation and tuberculous meningitis: aetiology and management. ( 29622715 )
2018
47
Sphenopalatine Ganglion Block Successfully Treats Migraines in a Type 1 Arnold Chiari Malformation Pregnant Patient: A Case Report. ( 29634560 )
2018
48
Acute exacerbation of Chiari malformation: A rare cause for non-awakening from anaesthesia. ( 29643564 )
2018
49
Chiari decompression outcomes using ligamentum nuchae harvest and duraplasty in pediatric patients with Chiari malformation type I. ( 29652242 )
2018
50
Primary Extradural Meningioma of Posterior Fossa Associated with Acquired Chiari Malformation: A Short Review. ( 29682049 )
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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