Trait
Short toe
A toe that appears disproportionately short compared to the foot.
Summary
- Also called
- Short toes, Stubby toes, Brachydactyly of the foot, Hypoplasia of the toe, Hypoplastic toes, Short foot phalanges
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test78 genes linked to Short toe
Changes in these genes cause rare conditions in which Short toe 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 | Always | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Always | In 2 conditions |
| GRIP1glutamate receptor interacting protein 1 | Always | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 2 conditions |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| NPR2natriuretic peptide receptor 2 | Always | In 1 condition |
| PRKG2protein kinase cGMP-dependent 2 | Always | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Always | In 2 conditions |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Very often (80–99%) | In 2 conditions |
| FGFR3fibroblast growth factor receptor 3 | Very often (80–99%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Very often (80–99%) | In 2 conditions |
| GDF5growth differentiation factor 5 | Very often (80–99%) | In 1 condition |
| GPC3glypican 3 | Very often (80–99%) | In 1 condition |
| GPC4glypican 4 | Very often (80–99%) | In 1 condition |
| NOGnoggin | Very often (80–99%) | In 1 condition |
| NOTCH2notch receptor 2 | Very often (80–99%) | In 1 condition |
| PDE4Dphosphodiesterase 4D | Very often (80–99%) | In 2 conditions |
| PHF6PHD finger protein 6 | Very often (80–99%) | In 2 conditions |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Very often (80–99%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Often (30–79%) | In 1 condition |
| GHRgrowth hormone receptor | Often (30–79%) | In 1 condition |
| HBA1hemoglobin subunit alpha 1 | Often (30–79%) | In 1 condition |
| HBA2hemoglobin subunit alpha 2 | Often (30–79%) | In 1 condition |
| HEATR3HEAT repeat containing 3 | Often (30–79%) | In 1 condition |
| MIA3MIA SH3 domain ER export factor 3 | Often (30–79%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Often (30–79%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Often (30–79%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Often (30–79%) | In 2 conditions |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Often (30–79%) | In 1 condition |
| TNXBtenascin XB | Often (30–79%) | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Often (30–79%) | In 1 condition |
| VAC14VAC14 component of PIKFYVE complex | Often (30–79%) | In 1 condition |
| ADAadenosine deaminase | Sometimes (5–29%) | In 1 condition |
| ALMS1ALMS1 centrosome and basal body associated protein | Sometimes (5–29%) | In 1 condition |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Sometimes (5–29%) | In 1 condition |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Sometimes (5–29%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 1 condition |
Show 38 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| DCLRE1CDNA cross-link repair 1C | Sometimes (5–29%) | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Sometimes (5–29%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sometimes (5–29%) | In 1 condition |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Sometimes (5–29%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Sometimes (5–29%) | In 1 condition |
| IL2RGinterleukin 2 receptor subunit gamma | Sometimes (5–29%) | In 1 condition |
| IL7Rinterleukin 7 receptor | Sometimes (5–29%) | In 1 condition |
| LEF1lymphoid enhancer binding factor 1 | Sometimes (5–29%) | In 1 condition |
| NUDCD3NudC domain containing 3 | Sometimes (5–29%) | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Sometimes (5–29%) | In 1 condition |
| PSMB10proteasome 20S subunit beta 10 | Sometimes (5–29%) | In 1 condition |
| RAG1recombination activating 1 | Sometimes (5–29%) | In 1 condition |
| RAG2recombination activating 2 | Sometimes (5–29%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Sometimes (5–29%) | In 2 conditions |
| SLC26A2solute carrier family 26 member 2 | Sometimes (5–29%) | In 1 condition |
| TBX22T-box transcription factor 22 | Sometimes (5–29%) | In 1 condition |
| TGDSTDP-glucose 4,6-dehydratase | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ASAH1N-acylsphingosine amidohydrolase 1 | Rarely (1–4%) | In 1 condition |
| CTCFCCCTC-binding factor | Rarely (1–4%) | In 1 condition |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Not recorded | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Not recorded | In 1 condition |
| BMP2bone morphogenetic protein 2 | Not recorded | In 1 condition |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Not recorded | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| GNASGNAS complex locus | Not recorded | In 1 condition |
| GPX4glutathione peroxidase 4 | Not recorded | In 1 condition |
| HDAC4histone deacetylase 4 | Not recorded | In 1 condition |
| IFT122intraflagellar transport 122 | Not recorded | In 1 condition |
| KMT2Alysine methyltransferase 2A | Not recorded | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Not recorded | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Not recorded | In 1 condition |
| SF3B4splicing factor 3b subunit 4 | Not recorded | In 1 condition |
| SHOXSHOX homeobox | Not recorded | In 1 condition |
| SMAD4SMAD family member 4 | Not recorded | In 1 condition |
| TNNT3troponin T3, fast skeletal type | Not recorded | In 1 condition |
| ZMIZ1zinc finger MIZ-type containing 1 | 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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