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Trait
Abnormal vertebral morphology
An abnormality of one or more of the vertebrae.
Summary
- Also called
- Abnormal vertebrae, Abnormality of the vertebrae, Vertebral anomalies
- Body system
- Abnormality of the musculoskeletal system
Abnormal vertebral morphologyHP:0003468
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Read the genes linked to Abnormal vertebral morphology, and the rest of your genome, with one test.
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Get my Genome Test59 genes linked to Abnormal vertebral morphology
Changes in these genes cause rare conditions in which Abnormal vertebral morphology 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 |
|---|---|---|
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| TBXTT-box transcription factor T | Always | In 1 condition |
| ACVR1activin A receptor type 1 | Very often (80–99%) | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Very often (80–99%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Very often (80–99%) | In 2 conditions |
| CTSAcathepsin A | Very often (80–99%) | In 1 condition |
| FN1fibronectin 1 | Very often (80–99%) | In 1 condition |
| IDUAalpha-L-iduronidase | Very often (80–99%) | In 2 conditions |
| AFF4ALF transcription elongation factor 4 | Often (30–79%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 1 condition |
| CRIPTOcripto, EGF-CFC family member | Often (30–79%) | In 1 condition |
| CTBP1C-terminal binding protein 1 | Often (30–79%) | In 1 condition |
| DDRGK1DDRGK domain containing 1 | Often (30–79%) | In 1 condition |
| DISP1dispatched RND transporter family member 1 | Often (30–79%) | In 1 condition |
| DLL1delta like canonical Notch ligand 1 | Often (30–79%) | In 2 conditions |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Often (30–79%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Often (30–79%) | In 1 condition |
| FOXH1forkhead box H1 | Often (30–79%) | In 1 condition |
| GAS1growth arrest specific 1 | Often (30–79%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Often (30–79%) | In 1 condition |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Often (30–79%) | In 2 conditions |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 1 condition |
| NELFAnegative elongation factor complex member A | Often (30–79%) | In 1 condition |
| NODALnodal growth differentiation factor | Often (30–79%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Often (30–79%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | In 1 condition |
| PTCH1patched 1 | Often (30–79%) | In 2 conditions |
| SHHsonic hedgehog signaling molecule | Often (30–79%) | In 1 condition |
| SIX3SIX homeobox 3 | Often (30–79%) | In 1 condition |
| STILSTIL centriolar assembly protein | Often (30–79%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Often (30–79%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Often (30–79%) | In 1 condition |
| AGAaspartylglucosaminidase | Sometimes (5–29%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Sometimes (5–29%) | In 1 condition |
| CEP120centrosomal protein 120 | Sometimes (5–29%) | In 1 condition |
| CEP41centrosomal protein 41 | Sometimes (5–29%) | In 1 condition |
| COL10A1collagen type X alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| DACT1dishevelled binding antagonist of beta catenin 1 | Sometimes (5–29%) | In 1 condition |
| FOXF1forkhead box F1 | Sometimes (5–29%) | In 1 condition |
Show 19 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| INPP5Einositol polyphosphate-5-phosphatase E | Sometimes (5–29%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sometimes (5–29%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| NEK9NIMA related kinase 9 | Sometimes (5–29%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Sometimes (5–29%) | In 1 condition |
| PTCH2patched 2 | Sometimes (5–29%) | In 1 condition |
| SALL1spalt like transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Sometimes (5–29%) | In 1 condition |
| SOX2SRY-box transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Sometimes (5–29%) | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Rarely (1–4%) | In 1 condition |
| KIF7kinesin family member 7 | Rarely (1–4%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Rarely (1–4%) | In 1 condition |
| COLEC11collectin subfamily member 11 | Not recorded | In 1 condition |
| FANCBFA complementation group B | Not recorded | In 1 condition |
| KDM1Alysine demethylase 1A | Not recorded | In 1 condition |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Not recorded | In 1 condition |
| RECQL4RecQ like helicase 4 | Not recorded | In 1 condition |
| ZIC3Zic family zinc finger 3 | 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.
Narrower traits
- Abnormal vertebral body morphology122 genes
- Vertebral segmentation defect56 genes
- Compression fracture of a vertebral body40 genes
- Osteoporosis of vertebrae21 genes
- Abnormal bone maturation of vertebra14 genes
- Multiple small vertebral fractures3 genes
- Punctate vertebral calcifications3 genes
- Schmorl's node3 genes
- Abnormal shape of the end part of the vertebra bone2 genes
- Sclerotic vertebral body2 genes
- Vertebral hyperostosis2 genes
- Fractured vertebra1 gene
- Morbus Scheuermann1 gene
- Abnormal number of vertebrae
- Absent/small vertebrae
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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