MCID: CHR579
MIFTS: 45

Chiari Malformation Type Ii

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Chiari Malformation Type Ii

MalaCards integrated aliases for Chiari Malformation Type Ii:

Name: Chiari Malformation Type Ii 57 53 59 73
Arnold-Chiari Malformation 57 53 54 29 6
Chiari Malformation Type 2 53 59
Arnold Chiari Malformation Type Ii 53
Arnold-Chiari Malformation Type Ii 59
Arnold-Chiari Malformation Type 2 59
Chiari Type Ii Malformation 53
Cm2 57

Characteristics:

Orphanet epidemiological data:

59
arnold-chiari malformation type ii
Inheritance: Not applicable; Age of onset: Childhood;

OMIM:

57
Inheritance:
multifactorial

Miscellaneous:
symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeningocele


HPO:

32
chiari malformation type ii:
Inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 57 207950
Orphanet 59 ORPHA1136
UMLS via Orphanet 74 C0003803 C0555206 C0750930
ICD10 via Orphanet 34 Q07.0
MedGen 42 C0555206
UMLS 73 C0555206

Summaries for Chiari Malformation Type Ii

NINDS : 54 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 creebellum 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 Type Ii, also known as arnold-chiari malformation, is related to craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome and chiari malformation type i, and has symptoms including ataxia, muscle spasticity and opisthotonus. An important gene associated with Chiari Malformation Type Ii is FUZ (Fuzzy Planar Cell Polarity Protein). The drugs Imiquimod and Aminolevulinic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related phenotypes are hydrocephalus and nystagmus

NIH Rare Diseases : 53 Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). CM type II is usually accompanied by a myelomeningocele (a form of spina bifida that occurs when the spinal canal and backbone do not close before birth), which can result in partial or complete paralysis of the area below the spinal opening. While the severity of CM type II can vary greatly, it can potentially cause severe, life-threatening complications during infancy or childhood.  The exact cause of CM type II is not known but it appears to be due to defects in the brain and spinal cord that occur during fetal development. Treatment includes surgery to ease symptoms and/or stop the progression of damage to the nervous system. For most people, surgery improves or stabilizes symptoms. Some people may require more than one surgery.

OMIM : 57 Chiari malformation type II (CM2), also known as the Arnold-Chiari malformation, consists of elongation and descent of the inferior cerebellar vermis, cerebellar hemispheres, pons, medulla, and fourth ventricle through the foramen magnum into the spinal canal. CM2 is uniquely associated with myelomeningocele (open spina bifida; see 182940) and is found only in this population (Stevenson, 2004). It is believed to be a disorder of neuroectodermal origin (Schijman, 2004). For a general phenotypic description of the different forms of Chiari malformations, see Chiari malformation type I (CM1; 118420). (207950)

Related Diseases for Chiari Malformation Type Ii

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 Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 12.3
2 chiari malformation type i 12.3
3 syringomyelia, noncommunicating isolated 11.1
4 chiari malformation 10.4
5 myelomeningocele 10.1
6 hydrocephalus 10.0
7 sleep disorder 10.0
8 apnea, obstructive sleep 9.8
9 sleep apnea 9.8
10 tonsillitis 9.8
11 tethered spinal cord syndrome 9.8
12 internuclear ophthalmoplegia 9.8
13 meningitis 9.8
14 depression 9.8

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



Diseases related to Chiari Malformation Type Ii

Symptoms & Phenotypes for Chiari Malformation Type Ii

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
ataxia
spasticity
bulbar signs
hypotonia
more
Abdomen Gastrointestinal:
dysphagia
poor feeding
choking

Head And Neck Eyes:
nystagmus

Respiratory:
inspiratory stridor
expiratory apnea with cyanosis


Clinical features from OMIM:

207950

Human phenotypes related to Chiari Malformation Type Ii:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 nystagmus 32 HP:0000639
3 cyanosis 32 HP:0000961
4 ataxia 32 HP:0001251
5 muscular hypotonia 32 HP:0001252
6 agenesis of corpus callosum 32 frequent (33%) HP:0001274
7 generalized hypotonia 32 HP:0001290
8 dysphagia 32 HP:0002015
9 opisthotonus 32 HP:0002179
10 heterotopia 32 HP:0002282
11 arnold-chiari malformation 32 HP:0002308
12 cervical myelopathy 32 HP:0002318
13 spina bifida 32 HP:0002414
14 bulbar signs 32 HP:0002483
15 limb muscle weakness 32 HP:0003690
16 inspiratory stridor 32 HP:0005348
17 feeding difficulties 32 HP:0011968
18 occipital neuralgia 32 HP:0012318

UMLS symptoms related to Chiari Malformation Type Ii:


ataxia, muscle spasticity, opisthotonus, headache, occipital, inspiratory stridor

Drugs & Therapeutics for Chiari Malformation Type Ii

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

(show top 50) (show all 717)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imiquimod Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 99011-02-6 57469
2
Aminolevulinic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 106-60-5 137
3
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
4
Biperiden Approved, Investigational Phase 4 514-65-8 2381
5
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
6
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-61-6, 62-31-7 681
7
Droperidol Approved, Vet_approved Phase 4 548-73-2 3168
8
Lorazepam Approved Phase 4 846-49-1 3958
9
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
10
Nitric Oxide Approved Phase 4,Phase 2,Not Applicable 10102-43-9 145068 160954
11
Adalimumab Approved Phase 4 331731-18-1 16219006
12
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 5271565 637568
13
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7440-66-6 23994
14
Benzoyl peroxide Approved Phase 4,Not Applicable 94-36-0 7187
15
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 64-17-5 702
16
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Not Applicable 51-84-3 187
17
Verteporfin Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 129497-78-5
18
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
19
Sulfadiazine Approved, Investigational, Vet_approved Phase 4,Not Applicable 68-35-9 5215
20
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 124-94-7 31307
21
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 137-58-6 3676
22
Menthol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 2216-51-5 16666
23
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Early Phase 1,Not Applicable 22916-47-8 4189
24
Alendronate Approved Phase 4,Phase 2,Phase 3 121268-17-5, 66376-36-1 2088
25
Methylene blue Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 61-73-4
26
Tetracaine Approved, Vet_approved Phase 4,Phase 3,Phase 2 94-24-6 5411
27
Petrolatum Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 8009-03-8
28
Silicon Approved, Investigational Phase 4,Not Applicable 7440-21-3 4082203
29
Heparin Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 9005-49-6 772 46507594
30
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 50-28-2 5757
31 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 979-32-8
32
Polyestradiol phosphate Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 28014-46-2
33
Methoxsalen Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 298-81-7 4114
34
Rivastigmine Approved, Investigational Phase 4,Phase 3,Not Applicable 123441-03-2 77991
35
Adapalene Approved Phase 4,Phase 2 106685-40-9 60164
36
Ropivacaine Approved Phase 4,Phase 3,Phase 1,Not Applicable 84057-95-4 71273 175805
37
Etidronic acid Approved Phase 4,Phase 3 7414-83-7, 2809-21-4 3305
38
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
39
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
40
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 83-43-2 6741
41
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 50-24-8 5755
42
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
43
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
44
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
45
Povidone Approved Phase 4,Phase 3,Phase 2,Not Applicable 9003-39-8
46
Silver sulfadiazine Approved, Vet_approved Phase 4,Not Applicable 22199-08-2 441244
47
Memantine Approved, Investigational Phase 4 19982-08-2 4054
48
Diclofenac Approved, Vet_approved Phase 4,Phase 1 15307-86-5 3033
49
Nicotine Approved Phase 4,Phase 2,Phase 1,Early Phase 1 54-11-5 942 89594
50
Varenicline Approved, Investigational Phase 4,Phase 1 249296-44-4 5310966

Interventional clinical trials:

(show top 50) (show all 1344)
# Name Status NCT ID Phase Drugs
1 Therapeutic Effects of Monochromatic Infrared Energy Therapy on Patients With Chronic Low Back Pain Unknown status NCT01920971 Phase 4
2 Far Infrared Therapy on Peripheral Artery Disease in Hemodialysis Patients Unknown status NCT01095549 Phase 4
3 Reverse Phototherapy With Super Light-emitting Diode(Super-LED) for Hyperbilirubinemia in Term and Late Preterm Infants Unknown status NCT01340339 Phase 4
4 Use of a New Phototherapy Device (BBloo®) for the Treatment of Hyperbilirubinemia in the Newborn Infant Unknown status NCT02156050 Phase 4
5 Imiquimod 3.75% Cream in Combination With Cryotherapy in the Treatment of Hypertrophic Actinic Keratoses Unknown status NCT01229319 Phase 4 Cryotherapy alone to Left arm plus cryotherapy + imiquimod to Right arm;Cryotherapy alone to Left arm plus cryotherapy + imiquimod to Right arm
6 Long Term Efficacy and Safety of Eryfotona AK-NMSC® in Patients With Actinic Keratosis Unknown status NCT01656226 Phase 4
7 The Antalgic Effect of Pulse Frequency and Pad Size of TENS on Blunt Pressure Pain Unknown status NCT01999595 Phase 4
8 Maggot Debridement Therapy Versus Conventional Dressing Therapy to Treat Diabetic Foot Ulcers Unknown status NCT02816749 Phase 4
9 Superficial Basal Cell Carcinoma Treatment With Topical Photodynamic Therapy With Fractionated 5-aminolevulinic Acid 20% Versus Two Stage Methylaminolevulinate Unknown status NCT01491711 Phase 4 Methylaminolevulinate PDT in 2 sessions;Fractionated 5-aminolevulinic acid hydrochloride 20% gel PDT
10 Optimization of Procedural Sedation Protocol Used for Dental Care Delivery in People With Mental Disability Unknown status NCT02078336 Phase 4 Midazolam Mylan;Lorazepam Mylan;Valium + Akineton + Dehydrobenzperidol + Atropine sulfate
11 Far Infrared Therapy on AV Fistula Flow, Endothelial Function and Echocardiography in ESRD Patients Unknown status NCT01138254 Phase 4
12 Atorvastatin Versus Vitamin E in Treatment of Non-alcoholic Fatty Liver Disease Unknown status NCT01720719 Phase 4 atorvastatin;Vitamin E
13 The Influence of Adalimumab on Cardiovascular and Metabolic Risk in Psoriasis Unknown status NCT01088165 Phase 4 Adalimumab treatment arm;Fumaric acid esters treatment group
14 A Randomized Trial of Angiotensin Receptor bLocker,Fimasartan, in Aortic Stenosis (ALFA Trial) Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
15 Compliance and Tolerability of Rivastigmine Transdermal Patch 10 cm² in Patients With Probable Alzheimer's Disease. Completed NCT00731224 Phase 4 Rivastigmine transdermal patch
16 The Effects of the Rivastigmine Patch on Parkinson's Disease With Memory and/or Thinking Problems Completed NCT00988117 Phase 4 Rivastigmine Patch 9.5 cm2
17 Open-Label Safety Study to Evaluate Imiquimod Cream, 5% for Large Areas of Actinic Keratosis Completed NCT00116649 Phase 4 imiquimod cream
18 Anti Propionibacterium(P.) Acnes Activity of Epiduo® Gel Compared to Benzoyl Peroxide (BPO) 2.5% Gel Completed NCT01188538 Phase 4 Epiduo gel;BPO
19 Efficacy of Intraoperative Surgical Scrubbing in Reducing Bacterial Load After Nail Removal Surgery Completed NCT01330706 Phase 4 Polihexanide
20 Prevention of Catheter-Associated Infection With the Skin Disinfectant Octenidine Dihydrochloride Completed NCT00515151 Phase 4 0.1% Octenidine with 30% 1-propanol and 45% 2-propanol;74% Ethanol with 10% 2-propanol
21 A 24 Week, Multicenter, Open, Evaluation of the Clinical Effectiveness of the Once-daily 10 cm^2 Rivastigmine Patch Formulation in Patients With Probable Alzheimer's Disease (EXTRA) Completed NCT00622713 Phase 4 Rivastigmine transdermal patch
22 Combined Static and Dynamic Orthotic Treatment of the PIP Joint Completed NCT01914991 Phase 4
23 Effect of Systemic Ropivacaine on Hyperalgesia, Flare Reaction and Peripheral Nerve Excitability Completed NCT00900913 Phase 4 ropivacaine (Naropin)
24 Botulinum Toxin Treatment for Localized Vitiligo Completed NCT01051687 Phase 4 Botulinum toxin A
25 Prevention of Osteoporosis in Breast Cancer Survivors Completed NCT00567606 Phase 4
26 A 12 Week, Multicenter, Open Label Evaluation of Caregiver Preference, Safety and Tolerability of Exelon® Patch (Rivastigmine Transdermal) in Patients With Alzheimer's Disease Completed NCT01047579 Phase 4 Rivastigmine transdermal
27 Prospective Randomized Controlled Treatment Trial for Chronic Central Serous Chorioretinopathy Completed NCT01797861 Phase 4
28 Teriparatide (Forsteo) Treatment in Postmenopausal Women: Mechanism of Action Completed NCT01293292 Phase 4 Teriparatide
29 Nimodipine for Treating Acute Massive Cerebral Infarction Completed NCT02248233 Phase 4 Nimodipine;Saline + citicoline
30 A Clinical Trial to Study the Effects of Two Drugs, Lycopene and Prednisolone in Patients With Oral Lichen Planus Completed NCT02587117 Phase 4 lycopene;Prednisolone
31 STEP: Study of Imaging Techniques (ImaTx and DXA) in Postmenopausal Women With OstEoporosis Using Preotact (FP-008-ES) Completed NCT00583518 Phase 4 Parathyroid hormone (PTH)
32 Effect of Parathyroid Hormone (PTH) and Weight-Bearing on Bone in Spinal Cord Injury (SCI) Completed NCT00826228 Phase 4 teriparatide
33 Efficacy and Safety Study of Fentanyl Transdermal Patch for Treatment of Chronic Pain Completed NCT01902524 Phase 4 Fentanyl-TTS
34 Pain Management in Corneal Collagen Crosslinking for Keratoconus Completed NCT02867176 Phase 4 Gabapentin;Ketorolac
35 Bioequivalence of Ethylenediamine Dihydrochloride Study Completed NCT01798589 Phase 4 Ethylenediamine dihydrochloride
36 Efficiency of a Jellyfish Sting Inhibitor Sun Lotion and Protocols for Jellyfish Sting Pain Relief Completed NCT00693641 Phase 4
37 Comparative Analysis of Cost-effectiveness of Silver Dressing in Burns Completed NCT02108535 Phase 4 Nanocrystalline silver;Silver Sulphadiazine
38 Exelon Patch and Combination With Memantine Comparative Trial Completed NCT01025466 Phase 4 Rivastigmine transdermal patch (Exelon patch), memantine;Rivastigmine transdermal patch
39 Long-term Effects of Imiquimod and Diclofenac in Actinic Keratoses (LEIDA 2) Completed NCT01453179 Phase 4 Imiquimod;Diclofenac
40 Long-term Effects of Imiquimod and Diclofenac in Actinic Keratoses Completed NCT00777127 Phase 4 Imiquimod;Diclofenac
41 The Efficacy of Laser Assisted Hair Removal in the Treatment of Acne Keloidalis Nuchae; a Pilot Study Completed NCT01548898 Phase 4
42 Glucosamine as a Novel Adjunctive Therapy in Oral Lichen Planus Completed NCT02858297 Phase 4 Glucosamine sulfate;triamcinolone acetonide
43 Imiquimod 5% Cream in the Treatment of External Genital or Perianal Warts in HIV+ Patients Completed NCT00761371 Phase 4 Imiquimod 5% cream
44 Clinical Trial to Evaluate the Efficacy of Smoking Cessation Completed NCT01538394 Phase 4 Varenicline;Nicotine patches;Placebo (nicotine patches)
45 Study to Assess on a Molecular Level the Influence of a 5 % Dexpanthenol Ointment in Subjects With Superficial Injuries Completed NCT00859196 Phase 4 Dexpanthenol (BAY81-2996);Placebo
46 Fractional CO2 Treatment of Acne Scars in Asians Completed NCT00748462 Phase 4
47 Treatment of Lower Extremity Spider Veins With Excel V Completed NCT01362192 Phase 4
48 Radiation Exposure During Endoscopic Retrograde Cholangiopancreatography Between Prone and Left Lateral Decubitus Completed NCT01599351 Phase 4
49 Photodynamic Therapy for Lentigo Maligna Using 5-aminolevulinic Acid Nanoemulsion as a Light Sensitizing Cream Completed NCT02685592 Phase 4 5-aminolevulinic acid nanoemulsion
50 Evaluate Effectiveness of Epiduo® Gel in Reducing Antibiotic Sensitive & Resistant Strains of Propionibacterium (P)Acnes Completed NCT00907101 Phase 4 Adapalene 0.1%/Benzoyl Peroxide 2.5% Gel (Epiduo® Gel)

Search NIH Clinical Center for Chiari Malformation Type Ii

Genetic Tests for Chiari Malformation Type Ii

Genetic tests related to Chiari Malformation Type Ii:

# Genetic test Affiliating Genes
1 Arnold-Chiari Malformation 29

Anatomical Context for Chiari Malformation Type Ii

MalaCards organs/tissues related to Chiari Malformation Type Ii:

41
Skin, Bone, Brain, Testes, Liver, Breast, Spinal Cord

Publications for Chiari Malformation Type Ii

Articles related to Chiari Malformation Type Ii:

(show top 50) (show all 91)
# Title Authors Year
1
Sphenopalatine Ganglion Block Successfully Treats Migraines in a Type 1 Arnold Chiari Malformation Pregnant Patient: A Case Report. ( 29634560 )
2018
2
A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformity. ( 29410707 )
2018
3
Endoscopic Management of Arnold-Chiari Malformation Type I with or without Syringomyelia. ( 28586935 )
2017
4
Quality of life in individuals affected by Arnold Chiari malformation: comparison and validation of a measurement instrument. ( 29173189 )
2017
5
Rare Cause of Type 2 Respiratory Failure: Arnold Chiari Malformation. ( 28527177 )
2017
6
Arnold Chiari Malformation ( 28613730 )
2017
7
Acquired Arnold-Chiary malformation in a 16-year-old patient with hereditary angioedema. ( 28881398 )
2017
8
G6PD Deficiency with Arnold-Chiari Malformation. ( 27981932 )
2016
9
Bilateral Vocal Cord Palsy with Arnold Chiari Malformation: A Rare Case Series. ( 27790480 )
2016
10
Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report. ( 27149441 )
2016
11
Sequential morphological change of Chiari malformation type II following surgical repair of myelomeningocele. ( 26936599 )
2016
12
Acute porphyria in a patient with Arnold Chiari malformation. ( 25697467 )
2015
13
Contiguous triple spinal dysraphism associated with Chiari malformation Type II and hydrocephalus: an embryological conundrum between the unified theory of Pang and the unified theory of McLone. ( 26474100 )
2015
14
Short, severe dizziness attacks in a pregnant woman with type I ARNOLD-Chiari malformation. ( 26467350 )
2015
15
Chiropractic care for headaches and dizziness of a 34-year-old woman previously diagnosed with Arnold-Chiari malformation type 1. ( 25225468 )
2014
16
Syringomyelia and Arnold-Chiari malformation associated with neck pain and left arm radiculopathy treated with spinal manipulation. ( 25385566 )
2014
17
Arnold Chiari malformation with spina bifida: a lost opportunity of folic Acid supplementation. ( 25653995 )
2014
18
Scapular winging in a patient with Arnold-Chiari malformation type 1 and syringomyelia. ( 24686803 )
2014
19
Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold-Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome. ( 24387693 )
2014
20
Arnold-Chiari Malformation Type III With Meningoencephalocele: A Case Report. ( 25024966 )
2014
21
Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia. ( 24249999 )
2013
22
Type I Arnold-Chiari malformation with bronchiectasis, respiratory failure, and sleep disordered breathing: a case report. ( 23433005 )
2013
23
Dissociated sensory loss and muscle wasting in a young male with headaches: syringomyelia with type 1 Arnold-Chiari malformation. ( 24169873 )
2013
24
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. ( 23432975 )
2013
25
Sleep-disordered breathing in children with Chiari malformation type II and myelomeningocele. ( 22564146 )
2012
26
Unusual association of Arnold-Chiari malformation and vitamin B12 deficiency. ( 22778461 )
2012
27
Anesthetic management during Cesarean section in a woman with residual Arnold-Chiari malformation Type I, cervical kyphosis, and syringomyelia. ( 22439117 )
2012
28
Arnold-Chiari malformation type 1 complicated by sudden onset anterior spinal artery thrombosis, tetraparesis and respiratory arrest. ( 22701030 )
2011
29
Endoscopic resection of odontoid process in Arnold Chiari malformation type II. ( 22026144 )
2011
30
Difficult intubation in a parturient with syringomyelia and Arnold-Chiari malformation: Use of Airtraq laryngoscope. ( 22144932 )
2011
31
Congenital stridor in the context of Chiari malformation type II: the etiological role of vernix caseosa granulomatous meningitis. ( 21961543 )
2011
32
Improvement of obstructive sleep apneas caused by hydrocephalus associated with Chiari malformation Type II following surgery. ( 20887105 )
2010
33
Neuropathic arthropathy progressing with multiple joint involvement in the upper extremity due to syringomyelia and type I Arnold-Chiari malformation. ( 19547980 )
2010
34
Respiratory depression during VP shunting in Arnold Chiari malformation Type-II, a rare complication (Case reports and review of literature). ( 21887176 )
2009
35
Sleep disorder: a possible cause of attention deficit in children and adolescents with Chiari malformation type II. ( 19330206 )
2009
36
Postnatal ascent of the cerebellar tonsils in Chiari malformation Type II following surgical repair of myelomeningocele. ( 18759600 )
2008
37
Osteopetrosis with Arnold Chiari malformation type I and brain stem compression. ( 17476090 )
2007
38
Hemifacial spasm in a patient with neurofibromatosis and Arnold-Chiari malformation: a unique case association. ( 17952297 )
2007
39
Chiari malformation type II with vanishing cerebellum. ( 17079840 )
2006
40
Abnormalities in auditory evoked potentials of 75 patients with Arnold-Chiari malformations types I and II. ( 17119806 )
2006
41
Anesthetic management of a child with Arnold-Chiari malformation and Klippel-Feil syndrome. ( 16490108 )
2006
42
Foramen magnum decompression for the treatment of Arnold Chiari malformation type I with associated syringomyelia in an elderly patient. ( 15520835 )
2005
43
Maternal diabetes and neural tube defects: prenatal diagnosis of lumbosacral myelomeningocele, ventriculomegaly, Arnold-Chiari malformation and foot deformities in a pregnancy with poor maternal metabolic control, and review of the literature. ( 16259331 )
2005
44
Neuropathic arthropathy caused by Arnold-Chiari malformation with syringomyelia. ( 14648112 )
2004
45
Cluster-like headache: association with cervical syringomyelia and Arnold-Chiari malformation. ( 14728710 )
2004
46
[The intracranial hypertension in the course of Arnold-Chiari malformation]. ( 15646489 )
2004
47
Arnold-Chiari malformation in a pregnant woman. ( 14607053 )
2003
48
Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature? ( 14564218 )
2003
49
The semantics of terminology: distinguishing Arnold-Chiari malformations from Chiari malformations. ( 11861743 )
2002
50
Orofacial pain as the sole manifestation of syringobulbia-syringomyelia associated with Arnold-Chiari malformation. ( 11443828 )
2001

Variations for Chiari Malformation Type Ii

ClinVar genetic disease variations for Chiari Malformation Type Ii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance

Expression for Chiari Malformation Type Ii

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

Pathways for Chiari Malformation Type Ii

GO Terms for Chiari Malformation Type Ii

Sources for Chiari Malformation Type Ii

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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