Trait
Flared wide portion of long bone
Clinical name: Flared metaphysis
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Summary
- Also called
- Flared, widened metaphyses, marked metaphyseal flaring of long bones, Metaphyseal flaring, Metaphyseal flaring of long bones, Metaphyseal splaying, Metaphyses flared, Splayed metaphyses
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test51 genes linked to Flared wide portion of long bone
Changes in these genes cause rare conditions in which Flared wide portion of long bone 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 |
|---|---|---|
| ANKHANKH inorganic pyrophosphate transport regulator | Always | In 1 condition |
| AXIN1axin 1 | Always | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Always | In 2 conditions |
| COG4component of oligomeric golgi complex 4 | Always | In 1 condition |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Always | In 1 condition |
| DNA2DNA replication helicase/nuclease 2 | Always | In 1 condition |
| EEDembryonic ectoderm development | Always | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Always | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Always | In 4 conditions |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| LBRlamin B receptor | Always | In 2 conditions |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Always | In 2 conditions |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Always | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Always | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Very often (80–99%) | In 2 conditions |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Very often (80–99%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Very often (80–99%) | In 2 conditions |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Often (30–79%) | In 1 condition |
| B4GALT7beta-1,4-galactosyltransferase 7 | Often (30–79%) | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Often (30–79%) | In 1 condition |
| COL10A1collagen type X alpha 1 chain | Often (30–79%) | In 1 condition |
| DDRGK1DDRGK domain containing 1 | Often (30–79%) | In 2 conditions |
| GSCgoosecoid homeobox | Often (30–79%) | In 1 condition |
| MMP13matrix metallopeptidase 13 | Often (30–79%) | In 2 conditions |
| NEK1NIMA related kinase 1 | Often (30–79%) | In 1 condition |
| PRKG2protein kinase cGMP-dependent 2 | Often (30–79%) | In 1 condition |
| SLC39A13solute carrier family 39 member 13 | Often (30–79%) | In 1 condition |
| XYLT1xylosyltransferase 1 | Often (30–79%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| COMPcartilage oligomeric matrix protein | Sometimes (5–29%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sometimes (5–29%) | In 1 condition |
| TONSLtonsoku like, DNA repair protein | Sometimes (5–29%) | In 1 condition |
| VAC14VAC14 component of PIKFYVE complex | Sometimes (5–29%) | In 1 condition |
| CCN2cellular communication network factor 2 | Not recorded | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Not recorded | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | Not recorded | In 1 condition |
| FAM111AFAM111 trypsin like peptidase A | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| GJA1gap junction protein alpha 1 | Not recorded | In 1 condition |
| KIF22kinesin family member 22 | Not recorded | In 1 condition |
Show 11 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| LIFRLIF receptor subunit alpha | Not recorded | In 1 condition |
| NANSN-acetylneuraminate synthase | Not recorded | In 1 condition |
| NPR2natriuretic peptide receptor 2 | Not recorded | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Not recorded | In 1 condition |
| PCNTpericentrin | Not recorded | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Not recorded | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Not recorded | In 1 condition |
| RUNX2RUNX family transcription factor 2 | Not recorded | In 1 condition |
| SH3PXD2BSH3 and PX domains 2B | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 1 | Not recorded | In 1 condition |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | 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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