Chiari malformation type I
diseaseOn this page
Also known as Arnold-Chiari malformation type 1Arnold-Chiari malformation type IChiari malformation type 1
Summary
Chiari malformation type I (MONDO:0007316) is a disease and 4 clinical trials. A subtype of Chiari malformation — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide)
- Phenotypes (HPO): 44
- Clinical trials: 4
Clinical features
Signs & symptoms
Clinical features (HPO)
44 HPO clinical features (Orphanet curated; top 44 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0007099 | Chiari type I malformation | Obligate (100%) |
| HP:0002315 | Headache | Very frequent (80-99%) |
| HP:0002331 | Recurrent paroxysmal headache | Very frequent (80-99%) |
| HP:0030833 | Neck pain | Very frequent (80-99%) |
| HP:0040010 | Small posterior fossa | Very frequent (80-99%) |
| HP:0000360 | Tinnitus | Frequent (30-79%) |
| HP:0000639 | Nystagmus | Frequent (30-79%) |
| HP:0001293 | Cranial nerve compression | Frequent (30-79%) |
| HP:0001605 | Vocal cord paralysis | Frequent (30-79%) |
| HP:0002015 | Dysphagia | Frequent (30-79%) |
| HP:0002066 | Gait ataxia | Frequent (30-79%) |
| HP:0002073 | Progressive cerebellar ataxia | Frequent (30-79%) |
| HP:0002196 | Myelopathy | Frequent (30-79%) |
| HP:0002321 | Vertigo | Frequent (30-79%) |
| HP:0002395 | Lower limb hyperreflexia | Frequent (30-79%) |
| HP:0002516 | Increased intracranial pressure | Frequent (30-79%) |
| HP:0002650 | Scoliosis | Frequent (30-79%) |
| HP:0002949 | Fused cervical vertebrae | Frequent (30-79%) |
| HP:0003396 | Syringomyelia | Frequent (30-79%) |
| HP:0003474 | Somatic sensory dysfunction | Frequent (30-79%) |
| HP:0004602 | Cervical C2/C3 vertebral fusion | Frequent (30-79%) |
| HP:0004608 | Anteriorly placed odontoid process | Frequent (30-79%) |
| HP:0006824 | Cranial nerve paralysis | Frequent (30-79%) |
| HP:0007067 | Distal peripheral sensory neuropathy | Frequent (30-79%) |
| HP:0009591 | Abnormality of the vestibulocochlear nerve | Frequent (30-79%) |
| HP:0010558 | Abnormality of the clivus | Frequent (30-79%) |
| HP:0010825 | Abnormality of the eleventh cranial nerve | Frequent (30-79%) |
| HP:0010826 | Abnormality of the twelfth cranial nerve | Frequent (30-79%) |
| HP:0011389 | Functional abnormality of the inner ear | Frequent (30-79%) |
| HP:0012046 | Areflexia of upper limbs | Frequent (30-79%) |
| HP:0012534 | Dysesthesia | Frequent (30-79%) |
| HP:0025258 | Stiff neck | Frequent (30-79%) |
| HP:0000020 | Urinary incontinence | Occasional (5-29%) |
| HP:0000613 | Photophobia | Occasional (5-29%) |
| HP:0000651 | Diplopia | Occasional (5-29%) |
| HP:0001324 | Muscle weakness | Occasional (5-29%) |
| HP:0001437 | Abnormality of the musculature of the lower limbs | Occasional (5-29%) |
| HP:0002512 | Brain stem compression | Occasional (5-29%) |
| HP:0003487 | Babinski sign | Occasional (5-29%) |
| HP:0005758 | Basilar impression | Occasional (5-29%) |
| HP:0008615 | Adult onset sensorineural hearing impairment | Occasional (5-29%) |
| HP:0010536 | Central sleep apnea | Occasional (5-29%) |
| HP:0012366 | Basilar invagination | Occasional (5-29%) |
| HP:0030195 | Fatigable weakness of swallowing muscles | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Chiari malformation type I |
| Mondo ID | MONDO:0007316 |
| OMIM | 118420 |
| Orphanet | 268882 |
| ICD-11 | 1383121646 |
| SNOMED CT | 253185002 |
| UMLS | C0750929 |
| MedGen | 196689 |
| GARD | 0009233 |
| MedDRA | 10056944 |
| Is cancer (heuristic) | no |
Also known as: Arnold-Chiari malformation type 1 · Arnold-Chiari malformation type I · Chiari malformation type 1 · Chiari malformation type I
Disease family
This is a subtype of Chiari malformation. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › Chiari malformation › Chiari malformation type I
Related subtypes (3): Chiari malformation type II, Chiari malformation type 3, Chiari malformation type 4
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 4.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 4 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06724029 | Not specified | RECRUITING | Neurosurgical Outcome Network |
| NCT02669836 | Not specified | COMPLETED | Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia |
| NCT04220541 | Not specified | COMPLETED | Investigation of the Effects of Exercise on Patients With Chiari Malformation |
| NCT06079125 | Not specified | COMPLETED | PFDD Versus PFDRT in Chiari Decompression Surgery |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.