CM1
MCID: CHR320
MIFTS: 57

Chiari Malformation Type I (CM1)

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chiari Malformation Type I

MalaCards integrated aliases for Chiari Malformation Type I:

Name: Chiari Malformation Type I 58 54 60
Chiari Malformation Type 1 54 60
Arnold-Chiari Malformation, Type I 74
Arnold Chiari Malformation Type I 54
Arnold-Chiari Malformation Type I 60
Arnold-Chiari Malformation Type 1 60
Arnold-Chiari Type I Malformation 30
Malformation, Chiari, Type I 41
Chiari Type 1 Malformation 77
Chiari Type I Malformation 54
Cm1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
prevalence 1 in 1,250
onset of symptoms in second or third decade (mean 25 years)
many cases are asymptomatic
symptoms may be exacerbated by pregnancy or trauma


HPO:

33
chiari malformation type i:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chiari Malformation Type I

NIH Rare Diseases : 54 Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance, and the skull. The malformation occurs when the lower part of the cerebellum extends below the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving the brainstem. Normally, only the spinal cord passes through the foramen magnum. Type 1 is the most common type of Chiari malformation and may not cause any symptoms. It is usually first noticed in adolescence or adulthood, often by accident during an examination for another condition. Symptoms, when present, may include headache, neck pain, unsteady gait, poor hand coordination, numbness and tingling of the hands and feet, dizziness, difficulty swallowing, and vision and speech problems. Depending on the symptoms present and severity, some individuals may not require treatment while others may require pain medications or surgery.

MalaCards based summary : Chiari Malformation Type I, also known as chiari malformation type 1, is related to chiari malformation and craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome, and has symptoms including muscle weakness, photophobia and gait ataxia. An important gene associated with Chiari Malformation Type I is DKK1 (Dickkopf WNT Signaling Pathway Inhibitor 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and Cardiac Progenitor Differentiation. The drugs Bupivacaine and Sufentanil have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and tonsil, and related phenotypes are arnold-chiari type i malformation and recurrent paroxysmal headache

OMIM : 58 Chiari malformation type I (CM1) is the protrusion of the cerebellar tonsils through the foramen magnum, defined radiologically as tonsillar descent of 5 mm or more. CM1 is associated with syringomyelia (see 186700) in up to 80% of cases. Although many individuals with CM1 are asymptomatic, the malformation can cause headaches, ocular disturbances, otoneurologic disturbances, lower cranial nerve signs, cerebellar ataxia, or spasticity. Onset of symptoms is usually in the third decade of life (Speer et al., 2003). Since many cases of CM1 are asymptomatic, prevalence estimates may not be accurate. However, a retrospective investigation of brain MRIs reported the prevalence of CM1 to be 1 in 1,280 individuals (Meadows et al., 2000). (118420)

Wikipedia : 77 Chiari malformation (CM) is a structural defect in the cerebellum, characterized by a downward... more...

Related Diseases for Chiari Malformation Type I

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 Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 chiari malformation 30.3 LRP4 DKK1 BMP1
2 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 12.4
3 chiari malformation type ii 11.6
4 basilar impression, primary 11.3
5 syringomyelia, noncommunicating isolated 11.3
6 microphthalmia, syndromic 12 11.3
7 craniofacial dyssynostosis 11.3
8 syringohydromyelia 11.2
9 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor 10.9
10 syringomyelia 10.6
11 scoliosis 10.4
12 hydrocephalus 10.3
13 glossopharyngeal neuralgia 10.2
14 neurofibromatosis, type i 10.2
15 neurofibromatosis, type iv, of riccardi 10.2
16 craniosynostosis 10.2
17 lung cancer 10.1
18 hydromyelia 10.1
19 craniometaphyseal dysplasia, autosomal dominant 10.1
20 crouzon syndrome 10.1
21 trigeminal neuralgia 10.1
22 pierre robin syndrome 10.1
23 lipomyelomeningocele 10.1
24 osteopetrosis 10.1
25 arteriovenous malformation 10.1
26 obstructive hydrocephalus 10.1
27 congenital hydrocephalus 10.1
28 syncope 10.1
29 headache 10.1
30 hemifacial spasm 10.1
31 pfeiffer syndrome 9.9
32 osteoporosis 9.9
33 mccune-albright syndrome 9.9
34 scoliosis, isolated 1 9.9
35 corpus callosum, agenesis of 9.9
36 cutis marmorata telangiectatica congenita 9.9
37 aneurysmal bone cysts 9.9
38 restless legs syndrome 9.9
39 periventricular nodular heterotopia 9.9
40 sleep apnea 9.9
41 idiopathic scoliosis 9.9
42 thrombosis 9.9
43 fibrous dysplasia 9.9
44 hemiplegia 9.9
45 synostosis 9.9
46 mammary paget's disease 9.9
47 brain edema 9.9
48 situs inversus 9.9
49 central sleep apnea 9.9
50 pathologic nystagmus 9.9

Graphical network of the top 20 diseases related to Chiari Malformation Type I:



Diseases related to Chiari Malformation Type I

Symptoms & Phenotypes for Chiari Malformation Type I

Human phenotypes related to Chiari Malformation Type I:

60 33 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arnold-chiari type i malformation 60 33 obligate (100%) Obligate (100%) HP:0007099
2 recurrent paroxysmal headache 60 33 hallmark (90%) Very frequent (99-80%) HP:0002331
3 neck pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0030833
4 small posterior fossa 60 33 hallmark (90%) Very frequent (99-80%) HP:0040010
5 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
6 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
7 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
8 increased intracranial pressure 60 33 frequent (33%) Frequent (79-30%) HP:0002516
9 cranial nerve paralysis 60 33 frequent (33%) Frequent (79-30%) HP:0006824
10 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
11 vocal cord paralysis 60 33 frequent (33%) Frequent (79-30%) HP:0001605
12 vertigo 60 33 frequent (33%) Frequent (79-30%) HP:0002321
13 progressive cerebellar ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002073
14 tinnitus 60 33 frequent (33%) Frequent (79-30%) HP:0000360
15 sensory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0003474
16 lower limb hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0002395
17 syringomyelia 60 33 frequent (33%) Frequent (79-30%) HP:0003396
18 cervical c2/c3 vertebral fusion 60 33 frequent (33%) Frequent (79-30%) HP:0004602
19 stiff neck 60 33 frequent (33%) Frequent (79-30%) HP:0025258
20 abnormality of the twelfth cranial nerve 60 33 frequent (33%) Frequent (79-30%) HP:0010826
21 dysesthesia 60 33 frequent (33%) Frequent (79-30%) HP:0012534
22 cranial nerve compression 60 33 frequent (33%) Frequent (79-30%) HP:0001293
23 myelopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002196
24 anteriorly placed odontoid process 60 33 frequent (33%) Frequent (79-30%) HP:0004608
25 distal peripheral sensory neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0007067
26 abnormality of the vestibulocochlear nerve 60 33 frequent (33%) Frequent (79-30%) HP:0009591
27 abnormality of the clivus 60 33 frequent (33%) Frequent (79-30%) HP:0010558
28 abnormality of the eleventh cranial nerve 60 33 frequent (33%) Frequent (79-30%) HP:0010825
29 areflexia of upper limbs 60 33 frequent (33%) Frequent (79-30%) HP:0012046
30 diplopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000651
31 photophobia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000613
32 babinski sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0003487
33 fatigable weakness of swallowing muscles 60 33 occasional (7.5%) Occasional (29-5%) HP:0030195
34 urinary incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0000020
35 brain stem compression 60 33 occasional (7.5%) Occasional (29-5%) HP:0002512
36 adult onset sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0008615
37 basilar impression 60 33 occasional (7.5%) Occasional (29-5%) HP:0005758
38 abnormality of the musculature of the lower limbs 60 33 occasional (7.5%) Occasional (29-5%) HP:0001437
39 central sleep apnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0010536
40 basilar invagination 60 33 occasional (7.5%) Occasional (29-5%) HP:0012366
41 headache 60 33 Very frequent (99-80%) HP:0002315
42 dysarthria 33 HP:0001260
43 muscle weakness 60 Occasional (29-5%)
44 hearing impairment 33 HP:0000365
45 paresthesia 33 HP:0003401
46 hyperacusis 33 HP:0010780
47 limb muscle weakness 33 HP:0003690
48 lower limb spasticity 33 HP:0002061
49 fused cervical vertebrae 60 Frequent (79-30%)
50 unsteady gait 33 HP:0002317

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
diplopia
photophobia
saccadic eye movements
ocular disturbances, nonspecific
more
Muscle Soft Tissue:
muscle weakness
muscle atrophy in the limbs

Skeletal Spine:
scoliosis

Genitourinary Bladder:
urinary incontinence

Head And Neck Face:
facial pain
facial numbness

Neurologic Central Nervous System:
dysarthria
unsteady gait
neck pain
paresthesias
extensor plantar responses
more
Abdomen Gastrointestinal:
dysphagia

Head And Neck Ears:
vertigo
hyperacusis
tinnitus
dizziness
otoneurologic disturbances
more
Head And Neck Neck:
neck pain

Skeletal Skull:
decreased volume of posterior cranial fossa
compression of cerebellar cisterns
decreased height of supraocciput
increased slope of tentorium
decreased length of clivis
more

Clinical features from OMIM:

118420

UMLS symptoms related to Chiari Malformation Type I:


muscle weakness, photophobia, gait ataxia, vertigo, hyperacusis, tinnitus, neck pain, dizziness, facial pain, facial numbness, arm pain

MGI Mouse Phenotypes related to Chiari Malformation Type I:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 BMP1 DKK1 LRP4
2 embryo MP:0005380 9.33 BMP1 DKK1 LRP4
3 limbs/digits/tail MP:0005371 9.13 BMP1 DKK1 LRP4
4 skeleton MP:0005390 8.8 BMP1 DKK1 LRP4

Drugs & Therapeutics for Chiari Malformation Type I

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

(show top 50) (show all 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
2
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
3
Morphine Approved, Investigational Phase 4 57-27-2 5288826
4
Histamine Approved, Investigational Phase 4 51-45-6 774
5
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
6
Ranitidine Approved Phase 4 66357-59-3, 66357-35-5 3001055
7
Sodium Citrate Approved, Investigational Phase 4 68-04-2
8
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
9 Central Nervous System Depressants Phase 4,Phase 2,Not Applicable
10 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
11 Anesthetics Phase 4,Phase 2,Not Applicable
12 Anesthetics, Local Phase 4,Phase 2,Not Applicable
13 Analgesics, Opioid Phase 4
14 Anesthetics, Intravenous Phase 4
15 Narcotics Phase 4
16 Adjuvants, Anesthesia Phase 4
17 Analgesics Phase 4,Phase 2
18 Anesthetics, General Phase 4
19 Antacids Phase 4
20
Bismuth Phase 4 7440-69-9 16682734 105143
21 Gastrointestinal Agents Phase 4
22 Histamine Antagonists Phase 4
23 Proton Pump Inhibitors Phase 4
24 Bismuth tripotassium dicitrate Phase 4
25 Ranitidine bismuth citrate Phase 4
26 Citrate Phase 4
27 Histamine H2 Antagonists Phase 4
28 Neurotransmitter Agents Phase 4
29 Anti-Ulcer Agents Phase 4
30
Histamine Phosphate Phase 4 51-74-1 65513
31 Ginger Approved Phase 2, Phase 3
32
Licorice Approved Phase 2, Phase 3
33
Ginseng Approved, Investigational, Nutraceutical Phase 2, Phase 3 50647-08-0
34 Hypoglycemic Agents Phase 2, Phase 3
35 Angiotensin Receptor Antagonists Phase 2, Phase 3
36 Goji Phase 2, Phase 3
37 HIV Protease Inhibitors Phase 2, Phase 3
38 Lycium Phase 2, Phase 3
39
protease inhibitors Phase 2, Phase 3
40 Dong Quai Phase 2, Phase 3
41 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
42 Astragalus Phase 2, Phase 3
43 Insulin, Globin Zinc Phase 2, Phase 3
44 Liver Extracts Phase 2, Phase 3
45 insulin Phase 2, Phase 3
46 Angelica Phase 2, Phase 3
47
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 2 7487-88-9 24083
48
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
49
Calcium Approved, Nutraceutical Phase 2,Phase 1 7440-70-2 271
50 Diuretics, Potassium Sparing Phase 2

Interventional clinical trials:

(show all 30)
# Name Status NCT ID Phase Drugs
1 Effects of Analgesics in Cesarean Section Elective Recruiting NCT03386630 Phase 4 Hyperbaric bupivacaine+Sufentanil;Hyperbaric bupivacaine+Morphine
2 Gastric pH in Critically Ill Patients Completed NCT00590928 Phase 4 esomeprazole;ranitidine
3 Semi-individualised Chinese Medicine Treatment as an Adjuvant Management for Diabetic Nephropathy Recruiting NCT02488252 Phase 2, Phase 3 Semi-individualised Chinese Medicine treatment;Routine medical care (active comparator)
4 Effect of Lidocaine With Magnesium Sulfate on the Success of the Inferior Alveolar Nerve Block Active, not recruiting NCT03262857 Phase 2 use of magnesium sulfate with lidocaine in inferior alveolar nerve block
5 Immunization of Disease-Free Melanoma Patients With Different HLA-A2 Peptides Terminated NCT00365937 Phase 1, Phase 2
6 An Exploratory Psoriasis Plaque Test Study With LEO 29102 Plus Calcipotriol, Ointment, in Psoriasis Vulgaris Completed NCT01466478 Phase 1 Ointment A: LEO 29102 2.5 mg/g plus calcipotriol 50 µg/g ointment;Ointment B: LEO 29102 2.5 mg/g ointment;Ointment C: Calcipotriol 50 µg/g ointment;Ointment D: LEO 29102 2.5 mg/g plus calcipotriol 50 µg/g ointment;Ointment G: LEO 29102 2.5 mg/g plus calcipotriol 50 µg/g ointment;Daivonex® ointment;Diprosone® ointment
7 The Role of Hyperbaric Oxygen and Neuropsychological Therapy in Cognitive Function Following Traumatic Brain Injury Recruiting NCT03900182 Phase 1
8 Anti-CD19 CAR-T Cells With Inducible Caspase 9 Safety Switch for B-cell Lymphoma Recruiting NCT03696784 Phase 1 Bendamustine;Fludarabine;AP1903
9 Chiari Study Looking at Use of Duragen Versus Duraguard Unknown status NCT00565435
10 Interventional Research in Schools - Second Part Unknown status NCT02434211 Not Applicable
11 Case Management - Active Telephone Support to Patients With COLD Unknown status NCT02457533 Not Applicable
12 Impact of Intravascular Fluid Resuscitation and Whole Blood Viscosity for Colon Surgery Unknown status NCT02770027 Not Applicable Intravenous Crystalloid;Intravenous HES
13 Impact of Intravascular Fluid Resuscitation and Whole Blood Viscosity for CABG Surgery Unknown status NCT02757027 Not Applicable Intravenous Crystalloid;Intravenous HES
14 Impact of Intravascular Fluid Resuscitation and Whole Blood Viscosity Unknown status NCT02700607 Not Applicable Intravenous Crystalloid;Intravenous HES
15 The Genetics of Chiari Type I Malformation Active, not recruiting NCT01060800
16 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Active, not recruiting NCT02669836 Not Applicable
17 Genetic Analysis of the Chiari I Malformation Recruiting NCT00004738
18 Arnold Chiari Malformation: the Otological Assessment as an Objective Criteria for Surgical Treatment Recruiting NCT03295864 Not Applicable
19 Magnetic Resonance Imaging of the Spine Withdrawn NCT01382290 Not Applicable
20 Correlation Between the Interstitial and Arterial Glucose in Post Surgery Patients Completed NCT00733148 dosing of insulin
21 A Prospective Natural History Study of Patients With Syringomyelia Recruiting NCT01150708
22 Study and Surgical Treatment of Syringomyelia Completed NCT00011245
23 Representations and Prevention of Cancers in Schools Completed NCT02378363
24 CT Dose Simulation Study for Appendicitis Completed NCT02556983
25 A Study on Immunological Effect of Vitamin A and Zinc in a Placebo Controlled 4 Cell Trial Completed NCT00374023 Not Applicable Zinc, or Vitamin A or both
26 Soft Tissue Wound Healing Following Different Gingivectomy Techniques Completed NCT03435068 Not Applicable
27 Dynamic Optical Coherence Tomography(D-OCT) Aging Study: A Preliminary Evaluation of Structural Differences Between Young and Aged Skin, Cellulite and Atrophic Acne Scars in Female Caucasian Subjects With Fitzpatrick Skin Types I-III Utilizing Non-invasive in Vivo D-OCT. Recruiting NCT03767400
28 Photographing the Skin During Photodynamic Therapy Enrolling by invitation NCT03167762 Not Applicable
29 Ultrasonic Explorations of Cerebral Tissue Motions - Influence of Aging Completed NCT01737606 Not Applicable
30 ABSORB: Postmarketing Surveillance Registry to Monitor the Everolimus-eluting Bioresorbable Vascular Scaffold in Patients With Coronary Artery Disease Completed NCT01583608

Search NIH Clinical Center for Chiari Malformation Type I

Genetic Tests for Chiari Malformation Type I

Genetic tests related to Chiari Malformation Type I:

# Genetic test Affiliating Genes
1 Arnold-Chiari Type I Malformation 30

Anatomical Context for Chiari Malformation Type I

MalaCards organs/tissues related to Chiari Malformation Type I:

42
Spinal Cord, Brain, Tonsil, Cerebellum, Heart, Whole Blood, Skin

Publications for Chiari Malformation Type I

Articles related to Chiari Malformation Type I:

(show top 50) (show all 208)
# Title Authors Year
1
Unexpected Progression of Tonsillar Herniation in Two Pediatric Cases with Chiari Malformation Type I and Review of the Literature. ( 30580335 )
2019
2
The Relationship Between Basilar Invagination and Chiari Malformation Type I: A Narrative Review. ( 30610310 )
2019
3
Bony Decompression for Chiari Malformation Type I: Long-Term Follow-Up. ( 30610311 )
2019
4
Surgical Treatment in Symptomatic Chiari Malformation Type I: A Series of 25 Adult Patients Treated with Cerebellar Tonsil Shrinkage. ( 30610312 )
2019
5
Development of Common Data Elements for Use in Chiari Malformation Type I Clinical Research: An NIH/NINDS Project. ( 30690581 )
2019
6
Posterior fossa decompression for Chiari malformation type I: clinical and radiological presentation, outcome and complications in a retrospective series of 105 procedures. ( 30737652 )
2019
7
Neurocognitive Functioning in Unoperated Adults with Chiari Malformation Type I. ( 30831298 )
2019
8
Posterior Fossa Decompression With or Without Duraplasty in the Treatment of Paediatric Chiari Malformation Type I: A Literature Review and Meta-Analysis. ( 30903142 )
2019
9
A Conditional Inference Tree Model for Predicting Sleep-Related Breathing Disorders in Patients With Chiari Malformation Type 1: Description and External Validation. ( 30621833 )
2019
10
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
11
Novel Assessment of Cerebrospinal Fluid Dynamics by Time-Spatial Labeling Inversion Pulse Magnetic Resonance Imaging in Patients with Chiari Malformation Type I. ( 29325958 )
2018
12
Delayed neurological deterioration following atlantoaxial facet joint distraction and fixation in a patient with Chiari malformation type I. ( 29303466 )
2018
13
Morphometric and volumetric comparison of 102 children with symptomatic and asymptomatic Chiari malformation Type I. ( 29125445 )
2018
14
Autologous cervical fascia duraplasty in 123 children and adults with Chiari malformation type I: surgical technique and complications. ( 29932369 )
2018
15
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
16
Syringobulbia in pediatric patients with Chiari malformation type I. ( 29701558 )
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
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
19
Time to Resolution of Symptoms After Suboccipital Decompression with Duraplasty in Children with Chiari Malformation Type I. ( 29933088 )
2018
20
Cognitive Functioning in Chiari Malformation Type I Without Posterior Fossa Surgery. ( 29766459 )
2018
21
Efficacy of Posterior Fossa Decompression with Duraplasty for Patients with Chiari Malformation Type I: A Systematic Review and Meta-Analysis. ( 29482005 )
2018
22
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
23
Successful Treatment With Electroconvulsive Therapy of a Patient With Chiari Malformation Type I. ( 29952861 )
2018
24
Chiari decompression outcomes using ligamentum nuchae harvest and duraplasty in pediatric patients with Chiari malformation type I. ( 29652242 )
2018
25
Letter to the Editor. Ligamentum nuchae as a graft material for duraplasty in patients with Chiari malformation type I. ( 30004313 )
2018
26
Anomalies in the cognitive-executive functions in patients with Chiari Malformation Type I. ( 30009755 )
2018
27
Management of hydrocephalus and subdural hygromas in pediatric patients after decompression of Chiari malformation type I: case series and review of the literature. ( 30028271 )
2018
28
Clinical Characteristics, Imaging Findings and Surgical Outcomes of Chiari Malformation Type I in Pediatric and Adult Patients. ( 30074187 )
2018
29
Dura-splitting versus a combined technique for Chiari malformation type I complicated with syringomyelia. ( 30146911 )
2018
30
Effectiveness of modified dural incision to preserve the patency of the occipital sinus in foramen magnum decompression for a patient with Chiari malformation type I. ( 30159197 )
2018
31
Letter to the Editor. Reappraisal of nuchal ligament as a dura substitute for Chiari malformation type I. ( 30192213 )
2018
32
Clinical Significance of Variable Clivus Gradients in Patients with Chiari Malformation Type I After Surgical Decompression: A Retrospective Analysis. ( 30347304 )
2018
33
Comparison between decompressed and non-decompressed Chiari Malformation type I patients: A neuropsychological study. ( 30412712 )
2018
34
Prevalence of Psychiatric Diagnoses in Pediatric Chiari Malformation Type 1. ( 30149388 )
2018
35
Clinical characteristics of neurogenic dysphagia in adult patients with Chiari malformation type I. ( 28416844 )
2017
36
Resolution of tachyarrhythmia following posterior fossa decompression surgery for chiari malformation type I: A case report. ( 29288861 )
2017
37
Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach. ( 27729302 )
2017
38
Endoscopic Management of Arnold-Chiari Malformation Type I with or without Syringomyelia. ( 28586935 )
2017
39
Sleep Disordered Breathing and Magnetic Resonance Imaging Findings in Children With Chiari Malformation Type I. ( 28943363 )
2017
40
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
41
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
42
Surgical decompression for Chiari malformation type I: An age-based outcomes study based on the Chicago Chiari Outcome Scale. ( 28804039 )
2017
43
Comparison of posterior fossa volumes and clinical outcomes after decompression of Chiari malformation Type I. ( 28291422 )
2017
44
Pediatric Chiari malformation type I: long-term outcomes following small-bone-window posterior fossa decompression with autologous-fascia duraplasty. ( 29285106 )
2017
45
Population-based description of familial clustering of Chiari malformation Type I. ( 28156254 )
2017
46
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. ( 28885133 )
2017
47
Subdural Fluid Collection and Hydrocephalus After Foramen Magnum Decompression for Chiari Malformation Type I: Management Algorithm of a Rare Complication. ( 28754644 )
2017
48
Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development. ( 28513615 )
2017
49
Comparison of Three Different Cranio-Cervical Decompression Procedures in Children with Chiari Malformation Type I: Does the Surgical Technique Matter? ( 28848212 )
2017
50
3D structural complexity analysis of cerebellum in Chiari malformation type I. ( 28589373 )
2017

Variations for Chiari Malformation Type I

Expression for Chiari Malformation Type I

Search GEO for disease gene expression data for Chiari Malformation Type I.

Pathways for Chiari Malformation Type I

Pathways related to Chiari Malformation Type I according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 BMP1 LRP4
2 10.35 BMP1 DKK1

GO Terms for Chiari Malformation Type I

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.58 BMP1 DKK1 LRP4
2 regulation of signaling receptor activity GO:0010469 9.46 BMP1 DKK1
3 Wnt signaling pathway GO:0016055 9.43 DKK1 LRP4
4 negative regulation of canonical Wnt signaling pathway GO:0090090 9.37 DKK1 LRP4
5 embryonic limb morphogenesis GO:0030326 9.32 DKK1 LRP4
6 negative regulation of Wnt signaling pathway GO:0030178 9.26 DKK1 LRP4
7 limb development GO:0060173 9.16 DKK1 LRP4
8 hair follicle development GO:0001942 8.96 DKK1 LRP4
9 negative regulation of ossification GO:0030279 8.62 DKK1 LRP4

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 8.62 BMP1 DKK1

Sources for Chiari Malformation Type I

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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