Trait
Chiari malformation
Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.
Summary
- Also called
- Arnold-Chiari malformation, Cerebellar tonsillar ectopia
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test71 genes linked to Chiari malformation
Changes in these genes cause rare conditions in which Chiari 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Always | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Always | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Always | In 6 conditions |
| OTX2orthodenticle homeobox 2 | Always | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Always | In 1 condition |
| RFWD3ring finger and WD repeat domain 3 | Always | In 1 condition |
| SIK3SIK family kinase 3 | Always | In 1 condition |
| FANCIFA complementation group I | Often (30–79%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Often (30–79%) | In 1 condition |
| IL11RAinterleukin 11 receptor subunit alpha | Often (30–79%) | In 1 condition |
| NOTCH2notch receptor 2 | Often (30–79%) | In 1 condition |
| PTCH1patched 1 | Often (30–79%) | In 1 condition |
| SC5Dsterol-C5-desaturase | Often (30–79%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Often (30–79%) | In 2 conditions |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sometimes (5–29%) | In 1 condition |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Sometimes (5–29%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| CHD4chromodomain helicase DNA binding protein 4 | Sometimes (5–29%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Sometimes (5–29%) | In 2 conditions |
| CWC27CWC27 spliceosome associated cyclophilin | Sometimes (5–29%) | In 1 condition |
| DACT1dishevelled binding antagonist of beta catenin 1 | Sometimes (5–29%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Sometimes (5–29%) | In 1 condition |
| FBN1fibrillin 1 | Sometimes (5–29%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
| FLNAfilamin A | Sometimes (5–29%) | In 1 condition |
| FOXF1forkhead box F1 | Sometimes (5–29%) | In 1 condition |
| FUZfuzzy planar cell polarity protein | Sometimes (5–29%) | In 1 condition |
| GNAQG protein subunit alpha q | Sometimes (5–29%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Sometimes (5–29%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Sometimes (5–29%) | In 1 condition |
| HMGA2high mobility group AT-hook 2 | Sometimes (5–29%) | In 1 condition |
| LEMD3LEM domain containing 3 | Sometimes (5–29%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Sometimes (5–29%) | In 1 condition |
Show 31 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sometimes (5–29%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sometimes (5–29%) | In 1 condition |
| METTL27methyltransferase like 27 | Sometimes (5–29%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| NOTCH3notch receptor 3 | Sometimes (5–29%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Sometimes (5–29%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| RRAS2RAS related 2 | Sometimes (5–29%) | In 1 condition |
| SALL1spalt like transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| SKISKI proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Sometimes (5–29%) | In 1 condition |
| SONSON DNA and RNA binding protein | Sometimes (5–29%) | In 1 condition |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| TBL2transducin beta like 2 | Sometimes (5–29%) | In 1 condition |
| TGFBR1transforming growth factor beta receptor 1 | Sometimes (5–29%) | In 1 condition |
| TGFBR2transforming growth factor beta receptor 2 | Sometimes (5–29%) | In 1 condition |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| TONSLtonsoku like, DNA repair protein | Sometimes (5–29%) | In 2 conditions |
| VANGL1VANGL planar cell polarity protein 1 | Sometimes (5–29%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| CTSKcathepsin K | Rarely (1–4%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Rarely (1–4%) | In 2 conditions |
| RNU4-2RNA, U4 small nuclear 2 | Rarely (1–4%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Not recorded | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Not recorded | In 1 condition |
| POLR3ARNA polymerase III subunit A | Not recorded | In 1 condition |
| PORCNporcupine O-acyltransferase | Not recorded | In 1 condition |
| SETD2SET domain containing 2, histone lysine methyltransferase | Not recorded | In 1 condition |
| SF3B2splicing factor 3b subunit 2 | 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.
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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.
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