CM1
MCID: CHR320
MIFTS: 46

Chiari Malformation Type I (CM1)

Categories: Ear 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 57 20 58
Arnold-Chiari Malformation Type 1 20 58
Arnold-Chiari Malformation Type I 20 58
Chiari Malformation Type 1 20 58
Arnold-Chiari Malformation, Type I 70
Arnold Chiari Malformation Type I 20
Malformation, Chiari, Type I 39
Chiari Type 1 Malformation 73
Chiari Type I Malformation 20
Cm1 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
chiari malformation type i:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Chiari Malformation Type I

GARD : 20 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 arnold-chiari malformation type 1, is related to chiari malformation and hyperostosis, and has symptoms including muscle weakness, photophobia and vertigo. 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. Affiliated tissues include spinal cord, cerebellum and heart, and related phenotypes are arnold-chiari type i malformation and neck pain

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) (Updated 20-May-2021)

Wikipedia : 73 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 268)
# Related Disease Score Top Affiliating Genes
1 chiari malformation 31.4 LRP4 DKK1 BMP1
2 hyperostosis 29.5 LRP4 BMP1
3 brittle bone disorder 29.3 DKK1 BMP1
4 syringomyelia, noncommunicating isolated 11.4
5 chiari malformation type ii 11.3
6 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 11.3
7 basilar impression, primary 11.2
8 craniofacial dyssynostosis with short stature 11.2
9 microphthalmia, syndromic 12 11.2
10 syringomyelia 11.0
11 scoliosis 10.7
12 hydrocephalus 10.7
13 headache 10.6
14 ataxia and polyneuropathy, adult-onset 10.5
15 dysphagia 10.5
16 aseptic meningitis 10.5
17 sleep apnea 10.3
18 glossopharyngeal neuralgia 10.3
19 craniosynostosis 10.3
20 pathologic nystagmus 10.3
21 syringobulbia 10.3
22 respiratory failure 10.3
23 intracranial hypertension 10.3
24 cerebrospinal fluid leak 10.3
25 cough headache 10.3
26 craniometaphyseal dysplasia, autosomal dominant 10.2
27 hemifacial spasm, familial 10.2
28 cystic fibrosis 10.2
29 hydrocephalus, congenital, 1 10.2
30 pierre robin syndrome 10.2
31 orthostatic intolerance 10.2
32 body mass index quantitative trait locus 1 10.2
33 anxiety 10.2
34 lipomyelomeningocele 10.2
35 idiopathic scoliosis 10.2
36 myelomeningocele 10.2
37 bone disease 10.2
38 arteriovenous malformation 10.2
39 horner's syndrome 10.2
40 pica disease 10.2
41 quadriplegia 10.2
42 osteopetrosis 10.2
43 obstructive hydrocephalus 10.2
44 normal pressure hydrocephalus 10.2
45 sleep disorder 10.2
46 fibromyalgia 10.2
47 chronic fatigue syndrome 10.2
48 encephalocele 10.2
49 growth hormone deficiency 10.2
50 aneurysm 10.2

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:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arnold-chiari type i malformation 58 31 obligate (100%) Obligate (100%) HP:0007099
2 neck pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0030833
3 recurrent paroxysmal headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002331
4 small posterior fossa 58 31 hallmark (90%) Very frequent (99-80%) HP:0040010
5 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
6 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
7 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
8 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
9 cranial nerve paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0006824
10 vocal cord paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0001605
11 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
12 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
13 sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0003474
14 syringomyelia 58 31 frequent (33%) Frequent (79-30%) HP:0003396
15 tinnitus 58 31 frequent (33%) Frequent (79-30%) HP:0000360
16 cervical c2/c3 vertebral fusion 58 31 frequent (33%) Frequent (79-30%) HP:0004602
17 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
18 dysesthesia 58 31 frequent (33%) Frequent (79-30%) HP:0012534
19 myelopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002196
20 abnormality of the twelfth cranial nerve 58 31 frequent (33%) Frequent (79-30%) HP:0010826
21 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
22 cranial nerve compression 58 31 frequent (33%) Frequent (79-30%) HP:0001293
23 anteriorly placed odontoid process 58 31 frequent (33%) Frequent (79-30%) HP:0004608
24 distal peripheral sensory neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007067
25 abnormality of the vestibulocochlear nerve 58 31 frequent (33%) Frequent (79-30%) HP:0009591
26 abnormality of the clivus 58 31 frequent (33%) Frequent (79-30%) HP:0010558
27 abnormality of the eleventh cranial nerve 58 31 frequent (33%) Frequent (79-30%) HP:0010825
28 areflexia of upper limbs 58 31 frequent (33%) Frequent (79-30%) HP:0012046
29 stiff neck 58 31 frequent (33%) Frequent (79-30%) HP:0025258
30 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
31 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
32 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
33 basilar invagination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012366
34 brain stem compression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002512
35 fatigable weakness of swallowing muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030195
36 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
37 adult onset sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008615
38 basilar impression 58 31 occasional (7.5%) Occasional (29-5%) HP:0005758
39 central sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010536
40 abnormality of the musculature of the lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0001437
41 headache 58 31 Very frequent (99-80%) HP:0002315
42 dysarthria 31 HP:0001260
43 muscle weakness 58 Occasional (29-5%)
44 hearing impairment 31 HP:0000365
45 paresthesia 31 HP:0003401
46 hyperacusis 31 HP:0010780
47 limb muscle weakness 31 HP:0003690
48 fused cervical vertebrae 58 Frequent (79-30%)
49 unsteady gait 31 HP:0002317
50 lower limb spasticity 31 HP:0002061

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
dysarthria
unsteady gait
neck pain
arm pain
paresthesias
more
Muscle Soft Tissue:
muscle weakness
muscle atrophy in the limbs

Genitourinary Bladder:
urinary incontinence

Head And Neck Face:
facial pain
facial numbness

Head And Neck Eyes:
nystagmus
diplopia
photophobia
saccadic eye movements
ocular disturbances, nonspecific
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 (Updated 20-May-2021)

UMLS symptoms related to Chiari Malformation Type I:


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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Completed NCT02669836
2 Investigation of the Effects of Different Exercise Programs on Patients With Chiari Malformation Type 1 Completed NCT04220541
3 The Genetics of Chiari Type I Malformation (CMI) With or Without Syringomyelia Completed NCT01060800
4 Investigation of the Effects of Exercise Program Applied on Postoperative Period in Patients With Chiari Type 1 Malformation Recruiting NCT04073667
5 Arnold Chiari Malformation: the Otological Assessment as an Objective Criteria for Surgical Treatment Active, not recruiting NCT03295864

Search NIH Clinical Center for Chiari Malformation Type I

Genetic Tests for Chiari Malformation Type I

Anatomical Context for Chiari Malformation Type I

MalaCards organs/tissues related to Chiari Malformation Type I:

40
Spinal Cord, Cerebellum, Heart, Bone, Brain, Eye, Tonsil

Publications for Chiari Malformation Type I

Articles related to Chiari Malformation Type I:

(show top 50) (show all 616)
# Title Authors PMID Year
1
Chiari in the family: inheritance of the Chiari I malformation. 61 57
16765829 2006
2
Familial communicating syringomyelia. 61 57
650252 1978
3
Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15. 57
17103432 2006
4
Evidence of familial syringomyelia in discordant association with Chiari type I malformation. 57
16834711 2006
5
Familial Arnold-Chiari Type I malformation. 57
15846383 2006
6
Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature. 57
15821947 2005
7
Chiari type I malformations in adults: a morphometric analysis of the posterior cranial fossa. 57
16099255 2005
8
A critical analysis of the Chiari 1.5 malformation. 57
15835105 2004
9
Inheritance of occipital bone hypoplasia (Chiari type I malformation) in Cavalier King Charles Spaniels. 57
15515584 2004
10
Syringomyelia in twin brothers discordant for Chiari I malformation: case report. 57
15449382 2004
11
The pathogenesis of syringomyelia associated with lesions at the foramen magnum: a critical review of existing theories and proposal of a new hypothesis. 57
15140600 2004
12
Familial syringomyelia: the first Japanese case and review of the literature. 57
12445928 2002
13
Chiari type I malformation in two monozygotic twins. 57
11478071 2001
14
Analysis of the posterior fossa in children with the Chiari 0 malformation. 57
11334271 2001
15
Asymptomatic Chiari Type I malformations identified on magnetic resonance imaging. 57
10839250 2000
16
A genetic hypothesis for Chiari I malformation with or without syringomyelia. 57
16676924 2000
17
Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. 57
10232534 1999
18
The resolution of syringohydromyelia without hindbrain herniation after posterior fossa decompression. 57
9688115 1998
19
Evidence of posterior fossa hypoplasia in the familial variant of adult Chiari I malformation: case report. 57
9482195 1998
20
Pathogenesis of Chiari malformation: a morphometric study of the posterior cranial fossa. 57
8988080 1997
21
Familial syringomyelia: case report and review of the literature. 57
7482254 1995
22
Tonsillar ectopia and Chiari malformations: monozygotic triplets. Case report. 57
7861232 1995
23
Segmental hyperhidrosis in two siblings with Chiari type I malformation. 57
7628494 1995
24
Headache and Chiari type I malformation: occurrence in female monozygotic twins and first-degree relatives. 57
1423562 1992
25
The Chiari type I malformation in two monozygotic twins and first-degree relatives. 57
1575461 1992
26
Two siblings with the Chiari I malformation. 57
2134013 1990
27
Occipital dysplasia and Chiari type I deformity in a family. Clinical and radiological study of three generations. 57
6668471 1983
28
Familial syringomyelia. 57
1141921 1975
29
HYDRODYNAMIC MECHANISM OF SYRINGOMYELIA: ITS RELATIONSHIP TO MYELOCELE. 57
14345682 1965
30
Developmental abnormalities in the region of the foramen magnum. 57
13412993 1957
31
Contribution to the Study of Spina Bifida, Encephalocele, and Anencephalus. 57
17231474 1883
32
Sinus pericranii-unusual anatomic obstacle to posterior decompression on an amniotic band sequence. 61
32705328 2021
33
Distal Adding-on Phenomenon in Scoliosis Secondary to Chiari Malformation Type I: Incidence and Risk Factors. 61
33186271 2021
34
Long-term outcomes for children with an incidentally discovered Chiari malformation type 1: what is the clinical significance? 61
33230572 2021
35
Coexisting Retrocerebellar Arachnoid Cyst and Chiari Type 1 Malformation: 3 Pediatric Cases of Surgical Management Tailored to the Pathogenic Mechanism and Systematic Review of the Literature. 61
33385608 2021
36
MRI T2-Hyperintense Signal Structures in the Cervical Spinal Cord: Anterior Median Fissure versus Central Canal in Chiari and Control-An Exploratory Pilot Analysis. 61
33707286 2021
37
Therapeutic cannabis for pain management in a patient with chiari malformation type i during concomitant SARS-COV-2 infection. 61
33709669 2021
38
Impact of Surgical Status, Loneliness, and Disability on Interleukin 6, C-Reactive Protein, Cortisol, and Estrogen in Females with Symptomatic Type I Chiari Malformation. 61
33677786 2021
39
Interlayer dural split technique for Chiari I malformation treatment in adult-Technical note. 61
33709500 2021
40
Management of Chiari malformation type I and syringomyelia during pregnancy and delivery. 61
33157323 2021
41
The 270° Circumferential Microsurgical Decompression of the Foramen Magnum in Adult Chiari Malformation Type I: Single Surgeon Series of 130 Patients with Syringomyelia, Neurologic, and Headache Outcomes. 61
33249219 2021
42
The executive functions, intellectual capacity, and psychiatric disorders in adolescents with Chiari malformation type 1. 61
33608747 2021
43
A titanium implant for Chiari malformation Type 1 surgery. 61
33767876 2021
44
Posterior fossa decompression with duraplasty in Chiari malformation type 1: a systematic review and meta-analysis. 61
32577895 2021
45
Chiari Malformation Type 1 and Syringomyelia in a Patient With Prior Surgically-Treated Sagittal Synostosis Effectively Treated With Posterior Cranial Vault Distraction Osteogenesis. 61
33405455 2021
46
Cough syncope and hyperventilation-induced convulsion in Chiari 1.5 malformation. 61
33389244 2021
47
Association Between Resistance to Cerebrospinal Fluid Flow Near the Foramen Magnum and Cough-Associated Headache in Adult Chiari Malformation Type I. 61
33454731 2021
48
Regional Brain Tissue Displacement and Strain is Elevated in Subjects with Chiari Malformation Type I Compared to Healthy Controls: A Study Using DENSE MRI. 61
33398617 2021
49
The impact of neurosurgical technique on the short- and long-term outcomes of adult patients with Chiari I malformation. 61
33387726 2021
50
Feasibility of occipital condyle screw placement in patients with Chiari malformation type I: a computed tomography-based morphometric study. 61
33462712 2021

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 LRP4 BMP1
2 10.35 DKK1 BMP1

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 9.33 LRP4 DKK1 BMP1
2 Wnt signaling pathway GO:0016055 9.32 LRP4 DKK1
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.26 LRP4 DKK1
4 limb development GO:0060173 8.96 LRP4 DKK1
5 negative regulation of ossification GO:0030279 8.62 LRP4 DKK1

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 DKK1 BMP1

Sources for Chiari Malformation Type I

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