Trait
Abnormality of the shankbone
Clinical name: Abnormal tibia morphology
Abnormality of the tibia (shinbone).
Summary
- Also called
- Abnormality of the shinbone, Abnormality of tibia morphology
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Abnormality of the shankbone, and the rest of your genome, with one test.
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Get my Genome Test16 genes linked to Abnormality of the shankbone
Changes in these genes cause rare conditions in which Abnormality of the shankbone 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 |
|---|---|---|
| BMPR1Bbone morphogenetic protein receptor type 1B | Very often (80–99%) | In 1 condition |
| FLNBfilamin B | Very often (80–99%) | In 1 condition |
| GDF5growth differentiation factor 5 | Very often (80–99%) | In 1 condition |
| SHOXSHOX homeobox | Very often (80–99%) | In 1 condition |
| TBXAS1thromboxane A synthase 1 | Very often (80–99%) | In 1 condition |
| WNT7AWnt family member 7A | Very often (80–99%) | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Often (30–79%) | In 1 condition |
| HPGD15-hydroxyprostaglandin dehydrogenase | Often (30–79%) | In 1 condition |
| TGFB1transforming growth factor beta 1 | Often (30–79%) | In 1 condition |
| ACTBactin beta | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| LMX1BLIM homeobox transcription factor 1 beta | Sometimes (5–29%) | In 1 condition |
| SEMA3Esemaphorin 3E | Sometimes (5–29%) | In 1 condition |
| NF1neurofibromin 1 | Rarely (1–4%) | 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
- Bowed shankbone42 genes
- Tibial torsion23 genes
- Absent/small shankbone5 genes
- Abnormality of the wide portion of shankbone3 genes
- Abnormality of the tibial plateaux1 gene
- Thickened tibial cortex1 gene
- Tibial pseudarthrosis1 gene
- Triangular tibia1 gene
- Abnormality of end part of shinbone
- Bone fusion involving the shinbone
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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