MCID: CHR342
MIFTS: 41

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 52 53 36 42
Arnold-Chiari Malformations 52
Arnold Chiari Malformation 52

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 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 Spinal Cord Injury. The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and cerebellum, and related phenotypes are growth/size/body region and homeostasis/metabolism

NIH Rare Diseases : 52 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 : 74 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 446)
# Related Disease Score Top Affiliating Genes
1 chiari malformation type i 34.3 LRP4 DKK1 BMP1
2 obstructive hydrocephalus 30.1 SYP GFAP AQP1
3 hydrocephalus 29.8 SYP MBP GFAP FGFR3 AQP1
4 brittle bone disorder 29.8 FGFR3 DKK1 BMP1
5 cystic teratoma 29.5 SYP GFAP
6 traumatic brain injury 29.5 MBP GFAP
7 brain injury 29.4 MBP GFAP
8 dysembryoplastic neuroepithelial tumor 29.2 SYP MAP2 GFAP
9 peripheral nervous system disease 28.9 SYP MBP GFAP
10 leukoencephalopathy, hereditary diffuse, with spheroids 28.2 SYP MBP MAP2 GFAP
11 chiari malformation type ii 13.0
12 chiari malformation type 3 12.6
13 chiari malformation type 4 12.5
14 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 12.3
15 syringomyelia, noncommunicating isolated 11.8
16 syringomyelia 11.8
17 syringohydromyelia 11.7
18 hydromyelia 11.7
19 neural tube defects 11.6
20 hydrocephalus, congenital, 1 11.6
21 intracranial hypotension 11.6
22 megalencephaly-capillary malformation-polymicrogyria syndrome 11.5
23 corpus callosum, agenesis of 11.4
24 craniofacial dyssynostosis with short stature 11.2
25 spondylocostal dysostosis 3, autosomal recessive 11.2
26 crouzon syndrome with acanthosis nigricans 11.2
27 colpocephaly 11.2
28 congenital laryngeal palsy 11.2
29 scoliosis 10.7
30 pathologic nystagmus 10.7
31 myelomeningocele 10.7
32 sleep apnea 10.6
33 headache 10.6
34 intracranial hypertension 10.5
35 ataxia and polyneuropathy, adult-onset 10.5
36 dysphagia 10.5
37 respiratory failure 10.4
38 craniosynostosis 10.4
39 central sleep apnea 10.4
40 syringobulbia 10.3
41 idiopathic scoliosis 10.3
42 meningocele 10.3
43 encephalocele 10.3
44 aseptic meningitis 10.3
45 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2 SMARCA2 FGFR3
46 synostosis 10.2
47 syndromic craniosynostosis 10.2
48 arthropathy 10.2
49 sleep disorder 10.2
50 muscular atrophy 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 AQP1 BMP1 DKK1 EPAS1 FGFR3 GFAP
2 homeostasis/metabolism MP:0005376 9.97 AQP1 BMP1 DKK1 EPAS1 FGFR3 GFAP
3 mortality/aging MP:0010768 9.96 AQP1 BMP1 DKK1 EPAS1 FGFR3 GFAP
4 nervous system MP:0003631 9.81 AQP1 DKK1 EPAS1 FGFR3 GFAP LRP4
5 skeleton MP:0005390 9.5 AQP1 BMP1 DKK1 EPAS1 FGFR3 LRP4
6 vision/eye MP:0005391 9.1 AQP1 DKK1 EPAS1 FGFR3 GFAP MBP

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 Estradiol 17 beta-cypionate Phase 3
4 Hormones Phase 3
5 Estradiol 3-benzoate Phase 3
6 Hormone Antagonists Phase 3
7 Contraceptive Agents Phase 3
8 Estrogens 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 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 The Genetics of Chiari Type I Malformation (CMI) With or Without Syringomyelia Completed NCT01060800
6 Impact of Prenatal Correction of Spina Bifida Using Fetoscopy and the SAFER Technique on Long-term Neurodevelopment. Completed NCT04356703
7 Establishing the Physiology of Syringomyelia Completed NCT00001327
8 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
9 Multicenter, International, Prospective, Observational, Study Using Neuro-Patch® in Duraplasty in Neurosurgery (MiDura) Recruiting NCT04189172
10 In Utero Endoscopic Correction of Myelomeningocele: Laparotomy Versus Percutaneous - A Pilot Study Recruiting NCT03856034
11 Genetic Analysis of the Chiari I Malformation Recruiting NCT00004738
12 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637
13 Online Acceptance and Commitment Therapy for Chronic Pain in Sample of People With Chiari Malformation Recruiting NCT04089670
14 Study of Fetoscopic Repair of Myelomeningocele in Fetuses With Isolated Spina Bifida Recruiting NCT03090633
15 Assessment of Cerebrospinal Fluid Flow Related Disorders Using a Phase-contrast Magnetic Resonance Imaging Technique. Recruiting NCT03656016
16 Arnold Chiari Malformation: the Otological Assessment as an Objective Criteria for Surgical Treatment Active, not recruiting NCT03295864
17 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Active, not recruiting NCT02669836
18 Prenatal Surgical Repair of Fetal Myelomeningocele Active, not recruiting NCT01983345
19 A Prospective Natural History Study of Syringomyelia or Associated Conditions Active, not recruiting NCT01150708
20 Dynamic Magnetic Resonance Imaging (MRI) and Quantitative MR Cerebral Spinal Fluid (CSF) Flow Studies in Craniovertebral Junction Anomalies Enrolling by invitation NCT00795080
21 Investigation of the Effects of Different Exercise Programs on Patients With Chiari Malformation Type 1 Not yet recruiting NCT04220541
22 Investigation of the Effects of Exercise Program Applied on Postoperative Period in Patients With Chiari Type 1 Malformation Not yet recruiting NCT04073667
23 Immunologic Profile of Patients With Newly Diagnosed Medulloblastoma at Initial Diagnosis and During Standard Radiation and Chemotherapy Withdrawn NCT01233479 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:

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

Publications for Chiari Malformation

Articles related to Chiari Malformation:

(show top 50) (show all 2182)
# Title Authors PMID Year
1
Persistent Syringomyelia After Posterior Fossa Decompression for Chiari Malformation. 61 42
32204297 2020
2
Neuroanatomic Correlates for the Neuropsychological Manifestations of Chiari Malformation Type I. 42 61
32204298 2020
3
Occipital Condyle Screw Placement in Patients with Chiari Malformation: A Radiographic Feasibility Analysis and Cadaveric Demonstration. 42 61
32204299 2020
4
Obstetric Management and Maternal Outcomes of Childbirth Among Patients With Chiari Malformation Type I. 61
31504826 2020
5
Chiari malformation type I and basilar invagination originating from atlantoaxial instability: a literature review and critical analysis. 61
32504118 2020
6
Tonsillectomy with modified reconstruction of the cisterna magna with and without craniectomy for the treatment of adult Chiari malformation type I with syringomyelia. 61
31897729 2020
7
Chiari type 1-a malformation or a syndrome? A critical review. 61
31656982 2020
8
Comparison of surgical outcomes in patients with Chiari Type I malformation receiving posterior fossa decompression with and without duraplasty. 61
32451665 2020
9
Upright magnetic resonance imaging in diagnostics of Chiari malformation type 1 - cui bono? 61
32215741 2020
10
Response to: Upright magnetic resonance imaging in diagnostics of Chiari malformation type 1 - cui bono? by Radek Fric. 61
32222819 2020
11
Determinants of Chiari I progression in pregnancy. 61
32414621 2020
12
Brain abnormalities in myelomeningocele patients. 61
31664560 2020
13
Operative findings and surgical outcomes in patients undergoing Chiari 1 malformation decompression: relationship to the extent of tonsillar ectopia. 61
31873790 2020
14
Clinical Chiari syndrome or anatomical Chiari malformation? A conundrum revisited. 61
31863299 2020
15
Correction to: Clinical Chiari syndrome or anatomical Chiari malformation? A conundrum revisited. 61
32430636 2020
16
Suboccipital decompressive craniectomy in a case of complex Chiari malformation complicated with influenza A (H1N1) necrotizing encephalopathy. 61
32377830 2020
17
Is there a relationship between the extent of tonsillar ectopia and the severity of the clinical Chiari syndrome? 61
31873796 2020
18
Posterior atlantoaxial facet joint reduction, fixation and fusion as revision surgery for failed suboccipital decompression in patients with basilar invagination and atlantoaxial dislocation: Operative nuances, challenges and outcomes. 61
32283470 2020
19
Clinicoradiographic data and management of children with Chiari malformation type 1 and 1.5: an Italian case series. 61
32524535 2020
20
Posterior fossa decompression with duraplasty in Chiari malformation type 1: a systematic review and meta-analysis. 61
32577895 2020
21
Risk Factors Portending Extended Length of Stay After Suboccipital Decompression for Adult Chiari I Malformation. 61
32147550 2020
22
Outcomes of dura-splitting technique compared to conventional duraplasty technique in the treatment of adult Chiari I malformation: a systematic review and meta-analysis. 61
32567026 2020
23
Pre-operative headaches and obstructive hydrocephalus predict an extended length of stay following suboccipital decompression for pediatric Chiari I malformation. 61
32519127 2020
24
Repeat Craniocervical Decompression in Patients with a Persistent or Worsening Syrinx: A Preliminary Report and Early Results. 61
32059967 2020
25
Spontaneous cerebrospinal fluid leak via foramen rotundum in a non-obese male presented as pseudo-Chiari malformation type I: a case report and literature review. 61
32571109 2020
26
Social Cognition in Chiari Malformation Type I: a Preliminary Characterization. 61
32048182 2020
27
Ultrasound-guided Syringosubarachnoid Shunt Insertion for Cervicothoracic Syringomyelia. 61
31220040 2020
28
Posterior Fossa Dimensions of Chiari Malformation Patients Compared with Normal Subjects: Systematic Review and Meta-Analysis. 61
32156591 2020
29
Upward vectors for osteogenic distraction treatment in secondary chronic intracranial hypertension in children undergoing scaphocephaly surgery: 2 cases reported. 61
31925509 2020
30
Klippel Feil Syndrome: Clinical Phenotypes Associated With Surgical Treatment. 61
31923127 2020
31
Failed Foramen Magnum Decompression in Chiari I Malformation Is Associated With Failure to Restore Normal Intracranial Compliance: An Observational Cohort Study. 61
32282048 2020
32
Surgical management of Chiari malformation type II. 61
32474814 2020
33
Additional Assessment of Developed Occipital Sinus Using Intraoperative Indocyanine Green Videoangiography for a Safe Foramen Magnum Decompression-Technical Case Report. 61
32421802 2020
34
Neurological Etiologies and Pathophysiology of Cyclic Vomiting Syndrome. 61
32107138 2020
35
In Reply: Obstetric Management and Maternal Outcomes of Childbirth Among Patients With Chiari Malformation Type I. 61
31885039 2020
36
Letter: Obstetric Management and Maternal Outcomes of Childbirth Among Patients With Chiari Malformation Type I. 61
31885049 2020
37
Clivus length distinguishes between asymptomatic healthy controls and symptomatic adult women with Chiari malformation type I. 61
32418026 2020
38
External validation of current prediction systems of improvement after decompression surgery in Chiari malformation type I patients: can we do better? 61
32357331 2020
39
Erratum. 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. 61
32442966 2020
40
The Retroverted Dens: A Review of its Anatomy, Terminology, and Clinical Significance. 61
32058112 2020
41
Multimodal Analgesia After Posterior Fossa Decompression With and Without Duraplasty for Children With Chiari Type I. 61
32321740 2020
42
Vermian fossa or median occipital fossa revisited: Prevalence and clinical anatomy. 61
32014471 2020
43
Prevalence and Impact of Underlying Diagnosis and Comorbidities on Chiari 1 Malformation. 61
32113729 2020
44
Evidence of Neural Microstructure Abnormalities in Type I Chiari Malformation: Associations Among Fiber Tract Integrity, Pain, and Cognitive Dysfunction. 61
32388548 2020
45
Cerebellar syndrome after occipital nerve block. A case report. 61
32447975 2020
46
Acute presentation of Chiari 1 malformation in children. 61
32055974 2020
47
A Novel Risk Calculator for Suboccipital Decompression for Adult Chiari Malformation. 61
32360928 2020
48
Minimally invasive foramen magnum durectomy and obexostomy for treatment of craniocervical junction-related syringomyelia in adults: case series and midterm follow-up. 61
32302978 2020
49
Posterior Calvarial Augmentation for Chiari Malformation Type 1 Refractory to Foramen Magnum Decompression. 61
32298820 2020
50
Radiological and clinical associations with scoliosis outcomes after posterior fossa decompression in patients with Chiari malformation and syrinx from the Park-Reeves Syringomyelia Research Consortium. 61
32276246 2020

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 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 limb development GO:0060173 9.37 LRP4 DKK1
2 multicellular organism development GO:0007275 9.35 LRP4 FGFR3 EPAS1 DKK1 BMP1
3 hair follicle development GO:0001942 9.32 LRP4 DKK1
4 dendrite morphogenesis GO:0048813 9.26 MAP2 LRP4
5 cellular response to organic substance GO:0071310 9.16 SYP MAP2
6 negative regulation of ossification GO:0030279 8.62 LRP4 DKK1

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 9.02 SYP GFAP FGFR3 BMP1 AQP1

Sources for Chiari Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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