Trait
Irregular wide portion of a long bone
Clinical name: Metaphyseal irregularity
Irregularity of the normally smooth surface of the metaphyses.
Summary
- Also called
- Frayed, irregular metaphyses, Frayed, irregular, metaphyses, Irregular metaphyses, Metaphyseal fraying, Metaphyseal irregularities
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test47 genes linked to Irregular wide portion of a long bone
Changes in these genes cause rare conditions in which Irregular wide portion of a 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 |
|---|---|---|
| COL10A1collagen type X alpha 1 chain | Always | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Always | In 4 conditions |
| DYMdymeclin | Always | In 1 condition |
| EFL1elongation factor like GTPase 1 | Always | In 2 conditions |
| FN1fibronectin 1 | Always | In 2 conditions |
| GINS3GINS complex subunit 3 | Always | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| LBRlamin B receptor | Always | In 1 condition |
| MMP9matrix metallopeptidase 9 | Always | In 1 condition |
| NKX3-2NK3 homeobox 2 | Always | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Always | In 2 conditions |
| QRICH1glutamine rich 1 | Always | In 1 condition |
| RAB33BRAB33B, member RAS oncogene family | Always | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Always | In 1 condition |
| SIK3SIK family kinase 3 | Always | In 1 condition |
| COMPcartilage oligomeric matrix protein | Very often (80–99%) | In 2 conditions |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Very often (80–99%) | In 1 condition |
| LPIN2lipin 2 | Very often (80–99%) | In 1 condition |
| TONSLtonsoku like, DNA repair protein | Very often (80–99%) | In 2 conditions |
| KIF22kinesin family member 22 | Often (30–79%) | In 2 conditions |
| MMP13matrix metallopeptidase 13 | Often (30–79%) | In 1 condition |
| NEK1NIMA related kinase 1 | Often (30–79%) | In 1 condition |
| PRKG2protein kinase cGMP-dependent 2 | Often (30–79%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Often (30–79%) | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Often (30–79%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| DDRGK1DDRGK domain containing 1 | Sometimes (5–29%) | In 2 conditions |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Sometimes (5–29%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Sometimes (5–29%) | In 1 condition |
| SBDSSBDS ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| ACP5acid phosphatase 5, tartrate resistant | Not recorded | In 1 condition |
| ARSBarylsulfatase B | Not recorded | In 1 condition |
| BGNbiglycan | Not recorded | In 1 condition |
| CASRcalcium sensing receptor | Not recorded | In 1 condition |
| CLCN5Cl-/H+ antiporter 5 | Not recorded | In 2 conditions |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Not recorded | In 1 condition |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Not recorded | In 1 condition |
| EXOC6Bexocyst complex component 6B | Not recorded | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Not recorded | In 2 conditions |
| GPX4glutathione peroxidase 4 | Not recorded | In 1 condition |
Show 7 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| MATN3matrilin 3 | Not recorded | In 1 condition |
| NANSN-acetylneuraminate synthase | Not recorded | In 1 condition |
| PHEXphosphate regulating endopeptidase X-linked | Not recorded | In 1 condition |
| SLC17A5solute carrier family 17 member 5 | Not recorded | In 1 condition |
| SLC34A3solute carrier family 34 member 3 | Not recorded | In 1 condition |
| SLC35D1solute carrier family 35 member D1 | Not recorded | In 1 condition |
| VDRvitamin D receptor | 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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