Trait
Chiari type I malformation
Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)
Summary
- Also called
- Arnold Chiari type I malformation, Arnold-Chiari type I malformation, Chiari I malformation
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Chiari type I malformation, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test48 genes linked to Chiari type I malformation
Changes in these genes cause rare conditions in which Chiari type I malformation is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Always | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Always | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Always | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Always | In 1 condition |
| RAD51RAD51 recombinase | Always | In 1 condition |
| SLC13A1solute carrier family 13 member 1 | Always | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| MAFMAF bZIP transcription factor | Often (30–79%) | In 2 conditions |
| NFIAnuclear factor I A | Often (30–79%) | In 1 condition |
| NFKB2nuclear factor kappa B subunit 2 | Often (30–79%) | In 1 condition |
| SLC30A7solute carrier family 30 member 7 | Often (30–79%) | In 1 condition |
| SMOsmoothened, frizzled class receptor | Often (30–79%) | In 2 conditions |
| CDC45cell division cycle 45 | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Sometimes (5–29%) | In 1 condition |
| CSF1Rcolony stimulating factor 1 receptor | Sometimes (5–29%) | In 1 condition |
| CWC27CWC27 spliceosome associated cyclophilin | Sometimes (5–29%) | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Sometimes (5–29%) | In 1 condition |
| DPF2double PHD fingers 2 | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Sometimes (5–29%) | In 1 condition |
| ERFETS2 repressor factor | Sometimes (5–29%) | In 1 condition |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Sometimes (5–29%) | In 1 condition |
| MLXIPLMLX interacting protein like | Sometimes (5–29%) | In 1 condition |
| NONOnon-POU domain containing octamer binding | Sometimes (5–29%) | In 1 condition |
| NOTCH3notch receptor 3 | Sometimes (5–29%) | In 1 condition |
| NOVA2NOVA alternative splicing regulator 2 | Sometimes (5–29%) | In 1 condition |
| PHEXphosphate regulating endopeptidase X-linked | Sometimes (5–29%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sometimes (5–29%) | In 1 condition |
| PLAAT3phospholipase A and acyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Sometimes (5–29%) | In 1 condition |
| POLR3BRNA polymerase III subunit B | Sometimes (5–29%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| SETBP1SET binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Sometimes (5–29%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Sometimes (5–29%) | In 1 condition |
| STAG1STAG1 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Sometimes (5–29%) | In 1 condition |
| TAOK1TAO kinase 1 | Sometimes (5–29%) | In 1 condition |
| TMEM94transmembrane protein 94 | Sometimes (5–29%) | In 1 condition |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Sometimes (5–29%) | In 1 condition |
Show 8 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| DHCR77-dehydrocholesterol reductase | Rarely (1–4%) | In 1 condition |
| H3-3AH3.3 histone A | Rarely (1–4%) | In 1 condition |
| SPRED1sprouty related EVH1 domain containing 1 | Rarely (1–4%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Rarely (1–4%) | In 2 conditions |
| FGFR2fibroblast growth factor receptor 2 | Not recorded | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| PAX2paired box 2 | Not recorded | In 1 condition |
| SKISKI proto-oncogene | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks