MCID: CHR342
MIFTS: 42

Chiari Malformation

Categories: Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Chiari Malformation

MalaCards integrated aliases for Chiari Malformation:

Name: Chiari Malformation 19 52 5 41 75

Classifications:



Summaries for Chiari Malformation

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...

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 489)
# Related Disease Score Top Affiliating Genes
1 arachnoiditis 30.7 MBP GFAP
2 hydrocephalus 30.4 SYP MBP GFAP FGFR3 AQP1
3 spinal cord disease 30.2 SYP MBP GFAP
4 obstructive hydrocephalus 30.1 SYP GFAP AQP1
5 internuclear ophthalmoplegia 30.0 MBP LRP4
6 cauda equina syndrome 29.9 SYP GFAP
7 dysembryoplastic neuroepithelial tumor 29.5 SYP GFAP
8 demyelinating disease 29.5 MBP MAP2 GFAP
9 brittle bone disorder 29.3 FGFR3 DKK1 COL5A2 COL1A2 BMP1
10 osteochondrodysplasia 29.3 FGFR3 DKK1 COL5A2 COL1A2 BMP1
11 paraganglioma 29.1 SYP GFAP EPAS1
12 peripheral nervous system disease 29.1 SYP MBP MAP2 GFAP
13 chiari malformation type ii 12.0
14 chiari malformation type i 11.9
15 chiari malformation type 4 11.4
16 chiari malformation type 3 11.4
17 syringomyelia 11.4
18 hydromyelia 11.2
19 corpus callosum, agenesis of 11.2
20 syringomyelia, noncommunicating isolated 11.2
21 craniofacial dyssynostosis with short stature 11.2
22 neural tube defects 11.2
23 central sleep apnea 11.1
24 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 11.1
25 hydrocephalus, congenital, 1 11.1
26 intracranial hypotension 11.1
27 idiopathic syringomyelia 11.1
28 megalencephaly-capillary malformation-polymicrogyria syndrome 11.0
29 crouzon syndrome with acanthosis nigricans 11.0
30 colpocephaly 11.0
31 congenital laryngeal palsy 11.0
32 scoliosis 10.8
33 pathologic nystagmus 10.7
34 myelomeningocele 10.7
35 headache 10.6
36 meningocele 10.6
37 sleep apnea 10.6
38 intracranial hypertension 10.5
39 cerebrospinal fluid leak 10.5
40 respiratory failure 10.5
41 tethered spinal cord syndrome 10.5
42 apnea, obstructive sleep 10.5
43 craniosynostosis 10.5
44 syringobulbia 10.4
45 intracranial hypertension, idiopathic 10.4
46 idiopathic scoliosis 10.4
47 aseptic meningitis 10.3
48 encephalocele 10.3
49 ptosis 10.3
50 synostosis 10.3

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.1 AQP1 COL1A2 DKK1 EPAS1 FGFR3 GFAP
2 growth/size/body region MP:0005378 10.1 AQP1 BMP1 COL1A2 COL5A2 COL7A1 DKK1
3 normal MP:0002873 9.98 COL1A2 COL5A2 COL7A1 FGFR3 GFAP MBP
4 limbs/digits/tail MP:0005371 9.85 BMP1 COL1A2 COL7A1 DKK1 FGFR3 LRP4
5 skeleton MP:0005390 9.81 AQP1 BMP1 COL1A2 COL5A2 COL7A1 DKK1
6 respiratory system MP:0005388 9.73 AQP1 COL5A2 DKK1 EPAS1 FGFR3 LRP4
7 vision/eye MP:0005391 9.56 AQP1 COL1A2 COL5A2 DKK1 EPAS1 FGFR3
8 mortality/aging MP:0010768 9.4 AQP1 BMP1 COL1A2 COL5A2 COL7A1 DKK1

Drugs & Therapeutics for Chiari Malformation

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

(show all 10)
# 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 Estrogens Phase 3
4 Estradiol 3-benzoate Phase 3
5 Estradiol 17 beta-cypionate Phase 3
6 Hormones Phase 3
7 Hormone Antagonists Phase 3
8 Contraceptive Agents Phase 3
9
Nicotine Approved 54-11-5 942 89594
10 Pharmaceutical Solutions

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Prospective Randomized Study of Duragen vs. Duraguard in Chiari Surgery Completed NCT00741858 Phase 3
2 Efficacy of Intravenous Acetaminophen as Analgesic Adjuvant Therapy in Children Undergoing Posterior Fossa Surgery Withdrawn NCT02532322 Phase 2 IV acetaminophen;normal saline
3 Postural Control Quality in Chiari I Malformation: Evaluation in a Pediatric Population Unknown status NCT04679792
4 The Comparison of Different Questionnaires for Preoperative Screening and Perioperative Risk Prediction in Obstructive Sleep Apnea Patients in China Unknown status NCT03074747
5 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Completed NCT02669836
6 Impact of Prenatal Correction of Spina Bifida Using Fetoscopy and the SAFER Technique on Long-term Neurodevelopment. Completed NCT04356703
7 Investigation of the Effects of Different Exercise Programs on Patients With Chiari Malformation Type 1 Completed NCT04220541
8 Arnold Chiari Malformation: the Otological Assessment as an Objective Criteria for Surgical Treatment Completed NCT03295864
9 Online Acceptance and Commitment Therapy for Chronic Pain in Sample of People With Chiari Malformation Completed NCT04089670
10 Dural Graft Equivalent Comparison Trial Completed NCT01667770
11 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
12 Genetic Analysis of the Chiari I Malformation Completed NCT00004738
13 The Genetics of Chiari Type I Malformation (CMI) With or Without Syringomyelia Completed NCT01060800
14 Establishing the Physiology of Syringomyelia Completed NCT00001327
15 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637
16 Multicenter, International, Prospective, Observational, Study Using Neuro-Patch® in Duraplasty in Neurosurgery (MiDura) Recruiting NCT04189172
17 Study of Fetoscopic Repair of Myelomeningocele in Fetuses With Isolated Spina Bifida Recruiting NCT03090633
18 In Utero Endoscopic Correction of Myelomeningocele: Laparotomy Versus Percutaneous - A Pilot Study Recruiting NCT03856034
19 Investigation of the Effects of Exercise Program Applied on Postoperative Period in Patients With Chiari Type 1 Malformation Recruiting NCT04073667
20 A Prospective Natural History Study of Patients With Syringomyelia Active, not recruiting NCT01150708
21 Dynamic Magnetic Resonance Imaging (MRI) and Quantitative MR Cerebral Spinal Fluid (CSF) Flow Studies in Craniovertebral Junction Anomalies Enrolling by invitation NCT00795080
22 Examining Different Components of Online Acceptance and Commitment Therapy for Chronic Pain in a Sample of People With Chiari Malformation Not yet recruiting NCT05581472
23 Identification of Genetic Mutations Involved in Chiari Type I Malformations Not yet recruiting NCT05165030

Search NIH Clinical Center for Chiari Malformation

Genetic Tests for Chiari Malformation

Anatomical Context for Chiari Malformation

Organs/tissues related to Chiari Malformation:

MalaCards : Spinal Cord, Cerebellum, Brain, Heart, Medulla Oblongata, Tonsil, Bone

Publications for Chiari Malformation

Articles related to Chiari Malformation:

(show top 50) (show all 2486)
# Title Authors PMID Year
1
Surgical Management of Chiari Malformation Type I and Instability of the Craniocervical Junction Based on Its Pathogenesis and Classification. 62 41
36031349 2022
2
The importance of precise plane selection for female adult Chiari Type I malformation midsagittal morphometrics. 62 41
35947605 2022
3
A Clinical Study on the Treatment of Recurrent Chiari (Type I) Malformation with Syringomyelia Based on the Dynamics of Cerebrospinal Fluid. 41
36277900 2022
4
A benchtop brain injury model using resected donor tissue from patients with Chiari malformation. 62
36254993 2023
5
Short-Term and Long-Term Complications Associated with Posterior Fossa Decompression for Chiari Malformation. 62
36424051 2023
6
Craniovertebral Junction Instability in the Setting of Chiari Malformation. 62
36424053 2023
7
Complex Chiari Malformations: Diagnosis, Evaluation, and Treatment. 62
36424054 2023
8
Orthostatic Intolerance and Chiari I Malformation. 62
36424063 2023
9
Management of Ventral Brainstem Compression in Chiari Malformation Type I. 62
36424052 2023
10
Adult Chiari Malformation Type I: Surgical Anatomy, Microsurgical Technique, and Patient Outcomes. 62
36424069 2023
11
Risk of meningitis after posterior fossa decompression with duraplasty using different graft types in patients with Chiari malformation type I and syringomyelia: a systematic review and meta-analysis. 62
36180807 2022
12
Hemorrhage due to a pseudoaneurysm on a dural-pial anastomosis after decompression for Chiari malformation type I: case report. 62
36063230 2022
13
Impact of sleep-disordered breathing on the management of children with Chiari malformation type I. 62
35962649 2022
14
Social impairment and snoring: a unique presentation of pediatric Chiari I malformation. 62
35946419 2022
15
Clinico-epidemiological profile and outcomes of babies with neural tube defects in a tertiary care center in Northern India. 62
34121591 2022
16
Spinal manifestations of Ehlers-Danlos syndrome: a scoping review. 62
35986728 2022
17
Postoperative general medical ward admission following Chiari malformation decompression. 62
36115060 2022
18
Chiari Type 1 malformation: CSF flow dynamics and morphology in the posterior fossa and craniocervical junction and correlation of these findings with syrinx formation. 62
35752467 2022
19
MRI findings differentiating tonsillar herniation caused by idiopathic intracranial hypertension from Chiari I malformation. 62
35697809 2022
20
Spontaneous resolution of syringomyelia following pregnancy and parturition in a patient with type I chiari malformation: A case and systematic review. 62
36049402 2022
21
A likely HOXC4 predisposition variant for Chiari malformations. 62
36433874 2022
22
Chiari Type III : Experience of Outcome for 15 Cases. 62
36281538 2022
23
Chiari type I malformation discovered through a glossopharyngeal neuralgia. 62
35256327 2022
24
Recovery of diabetes insipidus after Chiari malformation decompression: A rare manifestation of Chiari malformation. 62
36447669 2022
25
Combined transnasal/transoral endoscopic odontoid resection in pediatric patients: Otolaryngologic considerations to airway management, endoscopic exposure, and complication management. 62
36402000 2022
26
Myelomeningocele as an anomaly of secondary neurulation. 62
35821435 2022
27
Possible predictive clinical and radiological markers in decision making for surgical intervention in patients with Chiari Malformation type 1. 62
35758154 2022
28
Assessment of neuromonitoring use and postoperative readmission rates in pediatric Chiari I malformation with syrinx. 62
36411360 2022
29
Cryptogenic posterior circulation stroke in children. 62
36380707 2022
30
Foramen Magnum Decompression for Chiari malformation type I. Is there a superior surgical technique? 62
36455845 2022
31
Preprocedural Electrophysiological Monitoring in Craniofacial Surgery for a Patient with Chiari Malformation. 62
36357356 2022
32
Relationship between phenotypic features in Loeys-Dietz syndrome and the presence of intracranial aneurysms. 62
36308480 2022
33
Pregnancy in spina bifida patients: a comparative analysis of peripartum procedures and complications. 62
36278978 2022
34
Magnetic resonance imaging of the pulsing brain: a systematic review. 62
36242710 2022
35
Neck pain and Headache Complicated by Persistent Syringomyelia After Foramen Magnum Decompression for Chiari I Malformation: Improvement with Multimodal Chiropractic Therapies. 62
36315459 2022
36
Hyponatremia after craniotomy in children: a single-institution review. 62
36308540 2022
37
Structural Changes in the Cervicomedullary Junction in Adult Chiari Patients. 62
36307037 2022
38
Executive Functions, Intellectual Capacity, and Psychiatric Disorders in Adults with Type 1 Chiari Malformation. 62
36273729 2022
39
Neuropathic arthropathy of the shoulder as a presenting feature of Chiari malformation with syringomyelia: a case report with a systematic literature review. 62
35841440 2022
40
Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene. 62
35761471 2022
41
Feasibility of rapid spine magnetic resonance evaluation for spinal cord syrinx in the pediatric population. 62
35437634 2022
42
Insights on the Hydrodynamics of Chiari Malformation. 62
36142990 2022
43
Distinct Spinal Dysraphisms Arising from Each Hemicord of Type I Split Cord Malformation - A Rare Coexistence. 62
36412390 2022
44
The Small Posterior Cranial Fossa Syndrome and Chiari Malformation Type 0. 62
36143119 2022
45
Spontaneous Resolution of Aberrant Cerebellar Tonsil Movement in a Patient with Improving Chiari I Malformation. 62
35814813 2022
46
Reliability and Agreement in the Cerebellar Tonsil Tip Localization: Two Methods Using the McRae Line Concept in MRI. 62
35772711 2022
47
Case Report: Downbeat Nystagmus Due to Epidural Puncture during Labor with Undiagnosed Arnold-Chiari Malformation. 62
35678639 2022
48
Aberrant Vessel with Potential Catastrophic Vascular Complications in a Patient with Chiari Malformation. 62
36087914 2022
49
Phenotypes and Prognostic Factors of Syringomyelia in Single-Center Patients With Chiari I Malformation: Moniliform Type as a Special Configuration. 62
36203304 2022
50
Association between synthetic sealants and increased complication rates in posterior fossa decompression with duraplasty for Chiari malformations regardless of graft type. 62
36087335 2022

Variations for Chiari Malformation

ClinVar genetic disease variations for Chiari Malformation:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCA2 NM_003070.5(SMARCA2):c.2156T>C (p.Leu719Pro) SNV Uncertain Significance
827775 rs1586680296 GRCh37: 9:2077748-2077748
GRCh38: 9:2077748-2077748

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:

(show all 17)
# Super pathways Score Top Affiliating Genes
1 13.52 GFAP FGFR3 EPAS1 DKK1 COL6A5 COL5A2
2
Show member pathways
12.83 FGFR3 COL7A1 COL5A2 COL1A2 BMP1
3
Show member pathways
12.66 FGFR3 EPAS1 COL6A5 COL5A2 COL1A2
4 12.55 COL1A2 COL5A2 COL6A5 FGFR3 GFAP
5
Show member pathways
12.51 COL7A1 COL6A5 COL5A2 COL1A2 BMP1
6 12.34 SYP MBP MAP2 GFAP
7
Show member pathways
12.28 LRP4 COL7A1 COL6A5 COL5A2 COL1A2 BMP1
8
Show member pathways
11.95 COL7A1 COL5A2 COL1A2
9 11.76 MBP GFAP AQP1
10 11.68 MBP GFAP FGFR3
11
Show member pathways
11.58 LRP4 COL7A1 COL6A5 COL5A2 COL1A2
12 11.46 SYP MAP2 GFAP FGFR3
13 11.3 COL7A1 COL5A2 COL1A2
14 11.09 COL1A2 BMP1
15 10.7 GFAP FGFR3 COL7A1 COL5A2 COL1A2 BMP1
16 10.52 DKK1 BMP1
17 10.4 FGFR3 COL7A1 COL5A2 COL1A2

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 collagen trimer GO:0005581 9.02 COL7A1 COL6A5 COL5A2 COL1A2

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

# Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 9.63 COL5A2 COL1A2 BMP1
2 negative regulation of axonogenesis GO:0050771 9.56 LRP4 MBP
3 extracellular matrix organization GO:0030198 9.56 GFAP COL6A5 COL5A2 COL1A2
4 skeletal system development GO:0001501 9.23 FGFR3 COL5A2 COL1A2 BMP1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.23 COL7A1 COL6A5 COL5A2 COL1A2

Sources for Chiari Malformation

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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