CM1
MCID: CHR320
MIFTS: 55

Chiari Malformation Type I (CM1)

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Chiari Malformation Type I

MalaCards integrated aliases for Chiari Malformation Type I:

Name: Chiari Malformation Type I 57 53 59
Chiari Malformation Type 1 53 59
Arnold-Chiari Malformation, Type I 73
Arnold Chiari Malformation Type I 53
Arnold-Chiari Malformation Type I 59
Arnold-Chiari Malformation Type 1 59
Arnold-Chiari Type I Malformation 29
Malformation, Chiari, Type I 40
Chiari Type 1 Malformation 76
Chiari Type I Malformation 53
Cm1 57

Characteristics:

OMIM:

57
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:

32
chiari malformation type i:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chiari Malformation Type I

NIH Rare Diseases : 53 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 neck pain, dizziness and facial pain. 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 Esomeprazole and Histamine have been mentioned in the context of this disorder. Affiliated tissues include brain, tonsil and cerebellum, and related phenotypes are nystagmus and diplopia

OMIM : 57 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 : 76 Chiari malformations (CMs) are structural defects in the cerebellum. They consist of a downward... more...

Related Diseases for Chiari Malformation Type I

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

Symptoms via clinical synopsis from OMIM:

57
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
otoneurologic disturbances
dizziness
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

Human phenotypes related to Chiari Malformation Type I:

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 diplopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000651
3 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
4 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
5 increased intracranial pressure 59 32 frequent (33%) Frequent (79-30%) HP:0002516
6 photophobia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000613
7 cranial nerve paralysis 59 32 frequent (33%) Frequent (79-30%) HP:0006824
8 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
9 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
10 vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0002321
11 fatigable weakness of swallowing muscles 59 32 occasional (7.5%) Occasional (29-5%) HP:0030195
12 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
13 headache 59 32 Very frequent (99-80%) HP:0002315
14 tinnitus 59 32 frequent (33%) Frequent (79-30%) HP:0000360
15 vocal cord paralysis 59 32 frequent (33%) Frequent (79-30%) HP:0001605
16 urinary incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000020
17 sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0003474
18 brain stem compression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002512
19 lower limb hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0002395
20 adult onset sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0008615
21 cervical c2/c3 vertebral fusion 59 32 frequent (33%) Frequent (79-30%) HP:0004602
22 syringomyelia 59 32 frequent (33%) Frequent (79-30%) HP:0003396
23 recurrent paroxysmal headache 59 32 hallmark (90%) Very frequent (99-80%) HP:0002331
24 stiff neck 59 32 frequent (33%) Frequent (79-30%) HP:0025258
25 neck pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0030833
26 small posterior fossa 59 32 hallmark (90%) Very frequent (99-80%) HP:0040010
27 basilar impression 59 32 occasional (7.5%) Occasional (29-5%) HP:0005758
28 abnormality of the twelfth cranial nerve 59 32 frequent (33%) Frequent (79-30%) HP:0010826
29 dysesthesia 59 32 frequent (33%) Frequent (79-30%) HP:0012534
30 arnold-chiari type i malformation 59 32 obligate (100%) Obligate (100%) HP:0007099
31 cranial nerve compression 59 32 frequent (33%) Frequent (79-30%) HP:0001293
32 myelopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002196
33 anteriorly placed odontoid process 59 32 frequent (33%) Frequent (79-30%) HP:0004608
34 distal peripheral sensory neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007067
35 abnormality of the vestibulocochlear nerve 59 32 frequent (33%) Frequent (79-30%) HP:0009591
36 abnormality of the clivus 59 32 frequent (33%) Frequent (79-30%) HP:0010558
37 abnormality of the eleventh cranial nerve 59 32 frequent (33%) Frequent (79-30%) HP:0010825
38 areflexia of upper limbs 59 32 frequent (33%) Frequent (79-30%) HP:0012046
39 abnormality of the musculature of the lower limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0001437
40 central sleep apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0010536
41 basilar invagination 59 32 occasional (7.5%) Occasional (29-5%) HP:0012366
42 dysarthria 32 HP:0001260
43 muscle weakness 59 Occasional (29-5%)
44 hearing impairment 32 HP:0000365
45 paresthesia 32 HP:0003401
46 hyperacusis 32 HP:0010780
47 lower limb spasticity 32 HP:0002061
48 limb muscle weakness 32 HP:0003690
49 fused cervical vertebrae 59 Frequent (79-30%)
50 unsteady gait 32 HP:0002317

UMLS symptoms related to Chiari Malformation Type I:


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

MGI Mouse Phenotypes related to Chiari Malformation Type I:

46
# 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 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
2
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
3
Ranitidine Approved Phase 4 66357-59-3, 66357-35-5 3001055
4
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
5
Morphine Approved, Investigational Phase 4 57-27-2 5288826
6
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
7
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
8 Anesthetics Phase 4,Phase 2,Not Applicable
9 Anesthetics, Local Phase 4,Phase 2,Not Applicable
10 Central Nervous System Depressants Phase 4,Phase 2,Not Applicable
11 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
12 Antacids Phase 4
13 Anti-Ulcer Agents Phase 4
14
Bismuth Phase 4 7440-69-9 16682734 105143
15 Bismuth tripotassium dicitrate Phase 4
16 Gastrointestinal Agents Phase 4
17 Histamine Antagonists Phase 4
18 Histamine H2 Antagonists Phase 4
19
Histamine Phosphate Phase 4 51-74-1 65513
20 Neurotransmitter Agents Phase 4
21 Proton Pump Inhibitors Phase 4
22 Ranitidine bismuth citrate Phase 4
23 Adjuvants, Anesthesia Phase 4
24 Analgesics Phase 4,Phase 2
25 Analgesics, Opioid Phase 4
26 Anesthetics, General Phase 4
27 Anesthetics, Intravenous Phase 4
28 Narcotics Phase 4
29 Citrate Nutraceutical Phase 4
30 Ginger Approved, Nutraceutical Phase 2, Phase 3
31
Ginseng Approved, Investigational, Nutraceutical Phase 2, Phase 3 50647-08-0
32 Licorice Approved, Nutraceutical Phase 2, Phase 3
33 Hypoglycemic Agents Phase 2, Phase 3
34 insulin Phase 2, Phase 3
35 Insulin, Globin Zinc Phase 2, Phase 3
36 Angiotensin Receptor Antagonists Phase 2, Phase 3
37 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
38 HIV Protease Inhibitors Phase 2, Phase 3
39 Liver Extracts Phase 2, Phase 3
40
protease inhibitors Phase 2, Phase 3
41 Angelica Nutraceutical Phase 2, Phase 3
42 Astragalus Nutraceutical Phase 2, Phase 3
43 Dong Quai Nutraceutical Phase 2, Phase 3
44 Goji Nutraceutical Phase 2, Phase 3
45 Lycium Nutraceutical Phase 2, Phase 3
46
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
47
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 2 7487-88-9 24083
48 Calcium, Dietary Phase 2,Phase 1
49 Vaccines Phase 1, Phase 2,Not Applicable
50 Anti-Arrhythmia Agents Phase 2

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Gastric pH in Critically Ill Patients Completed NCT00590928 Phase 4 esomeprazole;ranitidine
2 Effects of Analgesics in Cesarean Section Elective Recruiting NCT03386630 Phase 4 Hyperbaric bupivacaine+Sufentanil;Hyperbaric bupivacaine+Morphine
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 Chiari Study Looking at Use of Duragen Versus Duraguard Unknown status NCT00565435
8 Interventional Research in Schools - Second Part Unknown status NCT02434211 Not Applicable
9 Case Management - Active Telephone Support to Patients With COLD Unknown status NCT02457533 Not Applicable
10 Impact of Intravascular Fluid Resuscitation and Whole Blood Viscosity for Colon Surgery Unknown status NCT02770027 Not Applicable Intravenous Crystalloid;Intravenous HES
11 Impact of Intravascular Fluid Resuscitation and Whole Blood Viscosity for CABG Surgery Unknown status NCT02757027 Not Applicable Intravenous Crystalloid;Intravenous HES
12 Impact of Intravascular Fluid Resuscitation and Whole Blood Viscosity Unknown status NCT02700607 Not Applicable Intravenous Crystalloid;Intravenous HES
13 Correlation Between the Interstitial and Arterial Glucose in Post Surgery Patients Completed NCT00733148 dosing of insulin
14 Study and Surgical Treatment of Syringomyelia Completed NCT00011245
15 Representations and Prevention of Cancers in Schools Completed NCT02378363
16 CT Dose Simulation Study for Appendicitis Completed NCT02556983
17 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
18 Soft Tissue Wound Healing Following Different Gingivectomy Techniques Completed NCT03435068 Not Applicable
19 Ultrasonic Explorations of Cerebral Tissue Motions - Influence of Aging Completed NCT01737606 Not Applicable
20 ABSORB: Postmarketing Surveillance Registry to Monitor the Everolimus-eluting Bioresorbable Vascular Scaffold in Patients With Coronary Artery Disease Completed NCT01583608
21 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Recruiting NCT02669836 Not Applicable
22 Genetic Analysis of the Chiari I Malformation Recruiting NCT00004738
23 Arnold Chiari Malformation: the Otological Assessment as an Objective Criteria for Surgical Treatment Recruiting NCT03295864 Not Applicable
24 A Prospective Natural History Study of Patients With Syringomyelia Recruiting NCT01150708
25 The Genetics of Chiari Type I Malformation Active, not recruiting NCT01060800
26 Photographing the Skin During Photodynamic Therapy Enrolling by invitation NCT03167762 Not Applicable
27 Magnetic Resonance Imaging of the Spine Withdrawn NCT01382290 Not Applicable

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 29

Anatomical Context for Chiari Malformation Type I

MalaCards organs/tissues related to Chiari Malformation Type I:

41
Brain, Tonsil, Cerebellum, Spinal Cord, Whole Blood, Bone, Skin

Publications for Chiari Malformation Type I

Articles related to Chiari Malformation Type I:

(show top 50) (show all 111)
# Title Authors Year
1
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
2
Novel Assessment of Cerebrospinal Fluid Dynamics by Time-Spatial Labeling Inversion Pulse Magnetic Resonance Imaging in Patients with Chiari Malformation Type I. ( 29325958 )
2018
3
Delayed neurological deterioration following atlantoaxial facet joint distraction and fixation in a patient with Chiari malformation type I. ( 29303466 )
2018
4
Morphometric and volumetric comparison of 102 children with symptomatic and asymptomatic Chiari malformation Type I. ( 29125445 )
2018
5
Autologous cervical fascia duraplasty in 123 children and adults with Chiari malformation type I: surgical technique and complications. ( 29932369 )
2018
6
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
7
Syringobulbia in pediatric patients with Chiari malformation type I. ( 29701558 )
2018
8
Evaluation of Soft Tissue Hypertrophy at the Retro-Odontoid Space in Patients with Chiari Malformation Type I on Magnetic Resonance Imaging. ( 29870844 )
2018
9
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
10
Time to Resolution of Symptoms After Suboccipital Decompression with Duraplasty in Children with Chiari Malformation Type I. ( 29933088 )
2018
11
Cognitive Functioning in Chiari Malformation Type I Without Posterior Fossa Surgery. ( 29766459 )
2018
12
Efficacy of Posterior Fossa Decompression with Duraplasty for Patients with Chiari Malformation Type I: A Systematic Review and Meta-Analysis. ( 29482005 )
2018
13
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
14
Successful Treatment With Electroconvulsive Therapy of a Patient With Chiari Malformation Type I. ( 29952861 )
2018
15
Chiari decompression outcomes using ligamentum nuchae harvest and duraplasty in pediatric patients with Chiari malformation type I. ( 29652242 )
2018
16
Clinical characteristics of neurogenic dysphagia in adult patients with Chiari malformation type I. ( 28416844 )
2017
17
Resolution of tachyarrhythmia following posterior fossa decompression surgery for chiari malformation type I: A case report. ( 29288861 )
2017
18
Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach. ( 27729302 )
2017
19
Endoscopic Management of Arnold-Chiari Malformation Type I with or without Syringomyelia. ( 28586935 )
2017
20
Sleep Disordered Breathing and Magnetic Resonance Imaging Findings in Children With Chiari Malformation Type I. ( 28943363 )
2017
21
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
22
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
23
Surgical decompression for Chiari malformation type I: An age-based outcomes study based on the Chicago Chiari Outcome Scale. ( 28804039 )
2017
24
Comparison of posterior fossa volumes and clinical outcomes after decompression of Chiari malformation Type I. ( 28291422 )
2017
25
Pediatric Chiari malformation type I: long-term outcomes following small-bone-window posterior fossa decompression with autologous-fascia duraplasty. ( 29285106 )
2017
26
Population-based description of familial clustering of Chiari malformation Type I. ( 28156254 )
2017
27
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
28
Subdural Fluid Collection and Hydrocephalus After Foramen Magnum Decompression for Chiari Malformation Type I: Management Algorithm of a Rare Complication. ( 28754644 )
2017
29
Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development. ( 28513615 )
2017
30
Comparison of Three Different Cranio-Cervical Decompression Procedures in Children with Chiari Malformation Type I: Does the Surgical Technique Matter? ( 28848212 )
2017
31
3D structural complexity analysis of cerebellum in Chiari malformation type I. ( 28589373 )
2017
32
The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? ( 27703483 )
2016
33
Comparative observational study on the clinical presentation, intracranial volume measurements, and intracranial pressure scores in patients with either Chiari malformation Type I or idiopathic intracranial hypertension. ( 27341045 )
2016
34
Cephalometric oropharynx and oral cavity analysis in Chiari malformation Type I: a retrospective case-control study. ( 27153161 )
2016
35
Diffusion tensor imaging assessment of microstructural brainstem integrity in Chiari malformation Type I. ( 26848913 )
2016
36
The value of multimodality intraoperative neurophysiological monitoring in treating pediatric Chiari malformation type I. ( 26671716 )
2016
37
Letter to the Editor: Are arachnoid cysts and Chiari malformation Type I more common in those with postconcussion syndrome? ( 27611207 )
2016
38
Are herniated cerebellar tonsils the main culprit of Chiari malformation Type I symptoms? Brainstem compression hypothesis seems to be re-elucidated and revised. ( 27593844 )
2016
39
Posterior fossa decompression with and without duraplasty for the treatment of Chiari malformation type I-a systematic review and meta-analysis. ( 27251046 )
2016
40
Magnetic resonance imaging-based measures predictive of short-term surgical outcome in patients with Chiari malformation Type I: a pilot study. ( 27494782 )
2016
41
Case Report: Acute obstructive hydrocephalus associated with infratentorial extra-axial fluid collection following foramen magnum decompression and durotomy for Chiari malformation type I. ( 27303624 )
2016
42
Natural and surgical history of Chiari malformation Type I in the pediatric population. ( 26588459 )
2016
43
Trends in surgical treatment of Chiari malformation Type I in the United States. ( 27834622 )
2016
44
Assessment of Chiari Malformation Type I Before and After Surgery. ( 26998631 )
2016
45
A novel autologous duraplasty in situ technique for the treatment of Chiari malformation Type I. ( 27081899 )
2016
46
Lumbar subdural cerebrospinal fluid collection with acute cauda equina syndrome after posterior fossa decompression for Chiari malformation Type I: case report. ( 27081710 )
2016
47
Low intensity signal in T2-weighted MRI images around syringomyelia in a patient with severe scoliosis associated with Chiari malformation Type I. ( 26970598 )
2016
48
Chiari malformation Type I surgery in pediatric patients. Part 1: validation of an ICD-9-CM code search algorithm. ( 26799412 )
2016
49
Cerebrospinal fluid disturbance in overweight women after occipitocervical decompression in Chiari malformation type I. ( 26743916 )
2016
50
Chiari malformation Type I surgery in pediatric patients. Part 2: complications and the influence of comorbid disease in California, Florida, and New York. ( 26799408 )
2016

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 9.54 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 9.4 DKK1 LRP4
5 negative regulation of Wnt signaling pathway GO:0030178 9.32 DKK1 LRP4
6 embryonic limb morphogenesis GO:0030326 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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