MCID: CHR342
MIFTS: 41

Chiari Malformation

Categories: Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chiari Malformation

MalaCards integrated aliases for Chiari Malformation:

Name: Chiari Malformation 20 53 36 6 42
Arnold-Chiari Malformations 20
Arnold Chiari Malformation 20

Classifications:



External Ids:

KEGG 36 H01561

Summaries for Chiari Malformation

NINDS : 53 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 hydrocephalus. An important gene associated with Chiari Malformation is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Neuroscience and Spinal Cord Injury. The drugs Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, spinal cord and brain, and related phenotypes are growth/size/body region and homeostasis/metabolism

GARD : 20 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 1 Chiari malformation type 2 Chiari malformation type 3 Chiari 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 : 42 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

KEGG : 36 Chiari malformations, also known as Arnold-Chiari syndrome, is a group of syndromes consisting of different kinds of pathologic conditions of the posterior fossa development. They are congenital in most cases, caused by structural defects in the brain spinal cord which may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet. Less frequently, Chiari malformations are acquired after birth. Causes of acquired Chiari malformations involve injuries, exposure to harmful substances, infections. More rarely, chronic subdural hematoma can be the cause of progressive caudal descent of the cerebellar tonsils. Chiari malformations were classified by Hans Chiari in 1891, into four groups. Chiari malformation type I (CM I), the most frequent of Chiari malformations, is characterized by the inferior displacement of cerebellar tonsillas through the foramen magnum. This leads to different symptoms and clinical features, such as headaches, syringomyelia, and hydrocephalus. CM II is characterized by displacement of the parts of the inferior vermis, pons, and medulla oblongata together with elongation of the fourth ventricle. Most cases are associated with myelomeningocele. CM III is characterized by an occipital or cervical encephalocele along with the intracranial abnormalities seen with CM II malformation and a wide foramen magnum. It causes severe neurological defects. CM IV is characterized by marked cerebellar hypoplasia or aplasia.

Wikipedia : 73 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 451)
# Related Disease Score Top Affiliating Genes
1 chiari malformation type i 32.9 LRP4 DKK1 BMP1
2 hydrocephalus 30.3 SYP MBP GFAP FGFR3 AQP1
3 obstructive hydrocephalus 30.2 SYP GFAP AQP1
4 cauda equina syndrome 29.9 SYP GFAP
5 brittle bone disorder 29.8 FGFR3 DKK1 BMP1
6 cystic teratoma 29.7 SYP GFAP
7 traumatic brain injury 29.6 MBP GFAP
8 brain injury 29.6 MBP GFAP
9 dysembryoplastic neuroepithelial tumor 29.4 SYP MAP2 GFAP
10 leukoencephalopathy, hereditary diffuse, with spheroids 28.7 SYP MBP MAP2 GFAP
11 alzheimer disease 28.5 SYP MAP2 GFAP DKK1 AQP1
12 chiari malformation type ii 12.0
13 chiari malformation type 4 11.5
14 syringomyelia 11.4
15 syringomyelia, noncommunicating isolated 11.4
16 chiari malformation type 3 11.4
17 megalencephaly-capillary malformation-polymicrogyria syndrome 11.3
18 hydromyelia 11.2
19 syringohydromyelia 11.2
20 corpus callosum, agenesis of 11.2
21 neural tube defects 11.2
22 central sleep apnea 11.1
23 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 11.1
24 hydrocephalus, congenital, 1 11.1
25 intracranial hypotension 11.1
26 craniofacial dyssynostosis with short stature 11.0
27 crouzon syndrome with acanthosis nigricans 11.0
28 colpocephaly 11.0
29 congenital laryngeal palsy 11.0
30 scoliosis 10.7
31 pathologic nystagmus 10.7
32 myelomeningocele 10.7
33 headache 10.6
34 sleep apnea 10.6
35 intracranial hypertension 10.5
36 dysphagia 10.5
37 ataxia and polyneuropathy, adult-onset 10.5
38 respiratory failure 10.5
39 craniosynostosis 10.4
40 syringobulbia 10.4
41 idiopathic scoliosis 10.3
42 aseptic meningitis 10.3
43 encephalocele 10.3
44 synostosis 10.3
45 syncope 10.3
46 meningocele 10.2
47 sleep disorder 10.2
48 muscular atrophy 10.2
49 meningitis 10.2
50 cerebrospinal fluid leak 10.2

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 growth/size/body region MP:0005378 9.96 AQP1 BMP1 DKK1 EPAS1 FGFR3 GFAP
2 homeostasis/metabolism MP:0005376 9.81 AQP1 BMP1 DKK1 EPAS1 FGFR3 GFAP
3 mortality/aging MP:0010768 9.65 AQP1 BMP1 DKK1 EPAS1 FGFR3 GFAP
4 nervous system MP:0003631 9.28 AQP1 DKK1 EPAS1 FGFR3 GFAP LRP4

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
Polyestradiol phosphate Approved Phase 3 28014-46-2
2
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
3 Estradiol 3-benzoate Phase 3
4 Contraceptive Agents Phase 3
5 Hormone Antagonists Phase 3
6 Hormones Phase 3
7 Estradiol 17 beta-cypionate Phase 3
8 Estrogens Phase 3
9
Nicotine Approved 54-11-5 942 89594
10 Pharmaceutical Solutions

Interventional clinical trials:

(show all 21)
# 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 Dural Graft Equivalent Comparison Trial Unknown status NCT01667770
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 Online Acceptance and Commitment Therapy for Chronic Pain in Sample of People With Chiari Malformation Completed NCT04089670
7 Investigation of the Effects of Different Exercise Programs on Patients With Chiari Malformation Type 1 Completed NCT04220541
8 The Genetics of Chiari Type I Malformation (CMI) With or Without Syringomyelia Completed NCT01060800
9 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
10 Establishing the Physiology of Syringomyelia Completed NCT00001327
11 Genetic Analysis of the Chiari I Malformation Completed NCT00004738
12 Impact of Prenatal Correction of Spina Bifida Using Fetoscopy and the SAFER Technique on Long-term Neurodevelopment. Completed NCT04356703
13 Investigation of the Effects of Exercise Program Applied on Postoperative Period in Patients With Chiari Type 1 Malformation Recruiting NCT04073667
14 In Utero Endoscopic Correction of Myelomeningocele: Laparotomy Versus Percutaneous - A Pilot Study Recruiting NCT03856034
15 Postural Control Quality in Chiari I Malformation: Evaluation in a Pediatric Population Recruiting NCT04679792
16 Study of Fetoscopic Repair of Myelomeningocele in Fetuses With Isolated Spina Bifida Recruiting NCT03090633
17 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637
18 Multicenter, International, Prospective, Observational, Study Using Neuro-Patch® in Duraplasty in Neurosurgery (MiDura) Recruiting NCT04189172
19 Arnold Chiari Malformation: the Otological Assessment as an Objective Criteria for Surgical Treatment Active, not recruiting NCT03295864
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

Search NIH Clinical Center for Chiari Malformation

Genetic Tests for Chiari Malformation

Anatomical Context for Chiari Malformation

MalaCards organs/tissues related to Chiari Malformation:

40
Cerebellum, Spinal Cord, Brain, Heart, Medulla Oblongata, Pons, Tonsil

Publications for Chiari Malformation

Articles related to Chiari Malformation:

(show top 50) (show all 2276)
# Title Authors PMID Year
1
Chiari malformation type I and basilar invagination originating from atlantoaxial instability: a literature review and critical analysis. 61 42
32504118 2020
2
Correlation of a new hydrodynamic index with other effective indexes in Chiari I malformation patients with different associations. 42
32985602 2020
3
Severe Cerebellar Degeneration and Chiari I Malformation - Speculative pathophysiology based on a systematic review. 42
32520161 2020
4
Distal Adding-on Phenomenon in Scoliosis Secondary to Chiari Malformation Type I: Incidence and Risk Factors. 61
33186271 2021
5
Sinus pericranii-unusual anatomic obstacle to posterior decompression on an amniotic band sequence. 61
32705328 2021
6
Coexisting Retrocerebellar Arachnoid Cyst and Chiari Type 1 Malformation: 3 Pediatric Cases of Surgical Management Tailored to the Pathogenic Mechanism and Systematic Review of the Literature. 61
33385608 2021
7
Long-term outcomes for children with an incidentally discovered Chiari malformation type 1: what is the clinical significance? 61
33230572 2021
8
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes. 61
33337535 2021
9
Anesthetic management for cesarean delivery in a woman with congenital atlantoaxial dislocation and Chiari type I anomaly: a case report and literature review. 61
33794807 2021
10
Interlayer dural split technique for Chiari I malformation treatment in adult-Technical note. 61
33709500 2021
11
Impact of Surgical Status, Loneliness, and Disability on Interleukin 6, C-Reactive Protein, Cortisol, and Estrogen in Females with Symptomatic Type I Chiari Malformation. 61
33677786 2021
12
MRI T2-Hyperintense Signal Structures in the Cervical Spinal Cord: Anterior Median Fissure versus Central Canal in Chiari and Control-An Exploratory Pilot Analysis. 61
33707286 2021
13
Management of Chiari malformation type I and syringomyelia during pregnancy and delivery. 61
33157323 2021
14
Therapeutic cannabis for pain management in a patient with chiari malformation type i during concomitant SARS-COV-2 infection. 61
33709669 2021
15
Is it safe and effective to correct congenital scoliosis associated with multiple intraspinal anomalies without preliminary neurosurgical intervention? 61
33725816 2021
16
Outcomes of Dura Splitting Decompression Versus Posterior Fossa Decompression With Duraplasty in the Treatment of Chiari I Malformation: A Systematic Review and Meta-analysis. 61
33290896 2021
17
In vitro evaluation of cerebrospinal fluid velocity measurement in type I Chiari malformation: repeatability, reproducibility, and agreement using 2D phase contrast and 4D flow MRI. 61
33736664 2021
18
The 270° Circumferential Microsurgical Decompression of the Foramen Magnum in Adult Chiari Malformation Type I: Single Surgeon Series of 130 Patients with Syringomyelia, Neurologic, and Headache Outcomes. 61
33249219 2021
19
The executive functions, intellectual capacity, and psychiatric disorders in adolescents with Chiari malformation type 1. 61
33608747 2021
20
One-Year Outcomes of Chiari Type 1 Malformation and Syringomyelia Treated With Posterior Fossa Decompression. 61
33605611 2021
21
Is C1-C2 Reduction and Fixation A Good Choice in the Treatment of Recurrent Chiari-Like Symptoms With Syringomyelia? 61
33189921 2021
22
Medulla Compression by Bilateral Aberrant Vertebral Artery with Mild Chiari Malformation. 61
33637633 2021
23
Unveiling the tale of the tail: an illustration of spinal dysraphisms. 61
31811517 2021
24
[Treatment of syringomyelia in patients with arachnopathy within craniovertebral junction]. 61
33560616 2021
25
A titanium implant for Chiari malformation Type 1 surgery. 61
33767876 2021
26
"Growing cerebellum" requiring operative decompression following perinatal ventriculoperitoneal shunting. 61
32964258 2021
27
Pre-operative headaches and obstructive hydrocephalus predict an extended length of stay following suboccipital decompression for pediatric Chiari I malformation. 61
32519127 2021
28
Posterior fossa decompression with duraplasty in Chiari malformation type 1: a systematic review and meta-analysis. 61
32577895 2021
29
Chiari Malformation Type 1 and Syringomyelia in a Patient With Prior Surgically-Treated Sagittal Synostosis Effectively Treated With Posterior Cranial Vault Distraction Osteogenesis. 61
33405455 2021
30
The impact of neurosurgical technique on the short- and long-term outcomes of adult patients with Chiari I malformation. 61
33387726 2021
31
Cough syncope and hyperventilation-induced convulsion in Chiari 1.5 malformation. 61
33389244 2021
32
Association Between Resistance to Cerebrospinal Fluid Flow Near the Foramen Magnum and Cough-Associated Headache in Adult Chiari Malformation Type I. 61
33454731 2021
33
Feasibility of occipital condyle screw placement in patients with Chiari malformation type I: a computed tomography-based morphometric study. 61
33462712 2021
34
Regional Brain Tissue Displacement and Strain is Elevated in Subjects with Chiari Malformation Type I Compared to Healthy Controls: A Study Using DENSE MRI. 61
33398617 2021
35
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. 61
33415748 2021
36
The relationship between Chiari 1.5 malformation and sleep-related breathing disorders on polysomnography. 61
33513576 2021
37
Cerebrospinal fluid flow in normal beagle dogs analyzed using magnetic resonance imaging. 61
33522154 2021
38
Distant large acute epidural hematoma after closed cerebrospinal fluid tapping through the anterior fontanelle: A case report and its pathogenesis. 61
33654562 2021
39
Anterior Distraction and Reduction with Posterior Stabilization for Basilar Invagination: A Novel Technique. 61
32891849 2021
40
Emergency Department Visits Following Suboccipital Decompression for Adult Chiari Malformation Type I. 61
32956886 2020
41
Natural History and Conservative Treatment Options in Chiari Malformation Type I in Adults: A Literature Update. 61
33447479 2020
42
Letter to the Editor Regarding "Evaluation of Soft Tissue Hypertrophy at the Retro-Odontoid Space in Patients with Chiari Malformation Type I on Magnetic Resonance Imaging". 61
33227868 2020
43
In Reply to the Letter to the Editor Regarding "Evaluation of Soft Tissue Hypertrophy at the Retro-Odontoid Space in Patients with Chiari Malformation Type I on Magnetic Resonance Imaging". 61
33227869 2020
44
Effectiveness of the Chiari Health Index for Pediatrics instrument in measuring postoperative health-related quality of life in pediatric patients with Chiari malformation type I. 61
33276337 2020
45
Syringomyelia Resolution Following Chiari Surgery: A Novel Scale for Communication and Research. 61
32779709 2020
46
Posterior Fossa Decompression and superficial durotomy rather than complete durotomy and duraplasty in the management of Chiari 1. 61
33357109 2020
47
Recrudescence of the syringomyelia after surgery of Chiari malformation type 1 with duraplasty. 61
31955615 2020
48
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies. 61
33043602 2020
49
Electroconvulsive Therapy for Autism-related Stereotyped Emesis After Chiari Malformation Type 1 Craniectomy. 61
33337647 2020
50
Resolution of type I Chiari malformation and associated syringomyelia following intrathecal chemotherapy: case report. 61
33276330 2020

Variations for Chiari Malformation

ClinVar genetic disease variations for Chiari Malformation:

6
# 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:

# Super pathways Score Top Affiliating Genes
1 11.79 SYP MBP MAP2 GFAP
2 11.51 MBP GFAP AQP1
3 11.34 MBP GFAP FGFR3
4 10.82 SYP MAP2 GFAP FGFR3

GO Terms for Chiari Malformation

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.35 LRP4 FGFR3 EPAS1 DKK1 BMP1
2 limb development GO:0060173 9.26 LRP4 DKK1
3 dendrite morphogenesis GO:0048813 9.16 MAP2 LRP4
4 negative regulation of ossification GO:0030279 8.62 LRP4 DKK1

Sources for Chiari Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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