Trait
Fluid-filled cyst in spinal cord
Clinical name: Syringomyelia
Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.
Summary
- Also called
- Syrinx
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test39 genes linked to Fluid-filled cyst in spinal cord
Changes in these genes cause rare conditions in which Fluid-filled cyst in spinal cord 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 |
| ARHGAP19Rho GTPase activating protein 19 | Always | In 1 condition |
| KDM1Alysine demethylase 1A | Always | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Always | In 1 condition |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| TM2D3TM2 domain containing 3 | Always | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Often (30–79%) | In 1 condition |
| DDHD2DDHD domain containing 2 | Often (30–79%) | In 1 condition |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Often (30–79%) | In 1 condition |
| FBLN1fibulin 1 | Often (30–79%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Often (30–79%) | In 1 condition |
| IL11RAinterleukin 11 receptor subunit alpha | Often (30–79%) | In 1 condition |
| NOTCH3notch receptor 3 | Often (30–79%) | In 2 conditions |
| SPARCsecreted protein acidic and cysteine rich | Often (30–79%) | In 1 condition |
| ABCA1ATP binding cassette subfamily A member 1 | Sometimes (5–29%) | In 1 condition |
| ACY1aminoacylase 1 | Sometimes (5–29%) | In 1 condition |
| CCNQcyclin Q | Sometimes (5–29%) | In 1 condition |
| COG4component of oligomeric golgi complex 4 | Sometimes (5–29%) | In 1 condition |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| FEM1Bfem-1 homolog B | Sometimes (5–29%) | In 1 condition |
| FOXF1forkhead box F1 | 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 |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| NOTCH2notch receptor 2 | Sometimes (5–29%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| RAI1retinoic acid induced 1 | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Rarely (1–4%) | In 2 conditions |
| EP300EP300 lysine acetyltransferase | Rarely (1–4%) | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Rarely (1–4%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Rarely (1–4%) | In 1 condition |
| RBM8ARNA binding motif protein 8A | Rarely (1–4%) | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Rarely (1–4%) | In 1 condition |
| TBX6T-box transcription factor 6 | Rarely (1–4%) | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | Not recorded | In 1 condition |
| NFIAnuclear factor I A | Not recorded | In 1 condition |
| RUNX2RUNX family transcription factor 2 | Not recorded | In 1 condition |
| SETD2SET domain containing 2, histone lysine methyltransferase | 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.
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