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Trait
Abnormality of the wide portion of a long bone
Clinical name: Abnormal metaphysis morphology
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Summary
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Read the genes linked to Abnormality of the wide portion of a long bone, and the rest of your genome, with one test.
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Get my Genome Test95 genes linked to Abnormality of the wide portion of a long bone
Changes in these genes cause rare conditions in which Abnormality of the 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 |
|---|---|---|
| ABCC9ATP binding cassette subfamily C member 9 | Very often (80–99%) | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Very often (80–99%) | In 1 condition |
| ANKHANKH inorganic pyrophosphate transport regulator | Very often (80–99%) | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Very often (80–99%) | In 1 condition |
| CASRcalcium sensing receptor | Very often (80–99%) | In 1 condition |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Very often (80–99%) | In 1 condition |
| CLCN7Cl-/H+ antiporter 7 | Very often (80–99%) | In 2 conditions |
| COL11A1collagen type XI alpha 1 chain | 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 1 condition |
| CRTAPcartilage associated protein | Very often (80–99%) | In 1 condition |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Very often (80–99%) | In 1 condition |
| CTNNB1catenin beta 1 | Very often (80–99%) | In 1 condition |
| CUL7cullin 7 | Very often (80–99%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Very often (80–99%) | In 2 conditions |
| DYNC2I1dynein 2 intermediate chain 1 | Very often (80–99%) | In 2 conditions |
| DYNC2I2dynein 2 intermediate chain 2 | Very often (80–99%) | In 2 conditions |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Very often (80–99%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Very often (80–99%) | In 3 conditions |
| FLNAfilamin A | Very often (80–99%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Very often (80–99%) | In 2 conditions |
| GPC6glypican 6 | Very often (80–99%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Very often (80–99%) | In 1 condition |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Very often (80–99%) | In 1 condition |
| IFT122intraflagellar transport 122 | Very often (80–99%) | In 1 condition |
| IFT43intraflagellar transport 43 | Very often (80–99%) | In 1 condition |
| IFT52intraflagellar transport 52 | Very often (80–99%) | In 1 condition |
| IFT80intraflagellar transport 80 | Very often (80–99%) | In 2 conditions |
| INPPL1inositol polyphosphate phosphatase like 1 | Very often (80–99%) | In 2 conditions |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Very often (80–99%) | In 1 condition |
| LIFRLIF receptor subunit alpha | Very often (80–99%) | In 1 condition |
| LMBR1limb development membrane protein 1 | Very often (80–99%) | In 1 condition |
| MMP13matrix metallopeptidase 13 | Very often (80–99%) | In 2 conditions |
| MMP9matrix metallopeptidase 9 | Very often (80–99%) | In 1 condition |
| NOTCH3notch receptor 3 | Very often (80–99%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Very often (80–99%) | In 1 condition |
| OBSL1obscurin like cytoskeletal adaptor 1 | Very often (80–99%) | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Very often (80–99%) | In 1 condition |
| P4HBprolyl 4-hydroxylase subunit beta | Very often (80–99%) | In 1 condition |
Show 55 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PCNTpericentrin | Very often (80–99%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Very often (80–99%) | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Very often (80–99%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Very often (80–99%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Very often (80–99%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Very often (80–99%) | In 2 conditions |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 1 condition |
| SEC24DSEC24 homolog D, COPII component | Very often (80–99%) | In 1 condition |
| SHOXSHOX homeobox | Very often (80–99%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Very often (80–99%) | In 1 condition |
| SLC29A3solute carrier family 29 member 3 | Very often (80–99%) | In 1 condition |
| SLC35D1solute carrier family 35 member D1 | Very often (80–99%) | In 1 condition |
| SNX10sorting nexin 10 | Very often (80–99%) | In 1 condition |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Very often (80–99%) | In 1 condition |
| TBXAS1thromboxane A synthase 1 | Very often (80–99%) | In 1 condition |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Very often (80–99%) | In 2 conditions |
| TNFRSF11ATNF receptor superfamily member 11a | Very often (80–99%) | In 1 condition |
| TNFSF11TNF superfamily member 11 | Very often (80–99%) | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Very often (80–99%) | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Very often (80–99%) | In 2 conditions |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Very often (80–99%) | In 1 condition |
| WDR19WD repeat domain 19 | Very often (80–99%) | In 2 conditions |
| WDR35WD repeat domain 35 | Very often (80–99%) | In 2 conditions |
| XYLT1xylosyltransferase 1 | Very often (80–99%) | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Often (30–79%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Often (30–79%) | In 1 condition |
| CEP120centrosomal protein 120 | Often (30–79%) | In 1 condition |
| CHEK2checkpoint kinase 2 | Often (30–79%) | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Often (30–79%) | In 1 condition |
| IFT140intraflagellar transport 140 | Often (30–79%) | In 1 condition |
| IFT172intraflagellar transport 172 | Often (30–79%) | In 1 condition |
| KIAA0753KIAA0753 | Often (30–79%) | In 1 condition |
| PDE4Dphosphodiesterase 4D | Often (30–79%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Often (30–79%) | In 1 condition |
| RB1RB transcriptional corepressor 1 | Often (30–79%) | In 1 condition |
| SLC39A13solute carrier family 39 member 13 | Often (30–79%) | In 1 condition |
| SMAD4SMAD family member 4 | Often (30–79%) | In 1 condition |
| TP53tumor protein p53 | Often (30–79%) | In 1 condition |
| TTC21Btetratricopeptide repeat domain 21B | Often (30–79%) | In 1 condition |
| VDRvitamin D receptor | Often (30–79%) | In 1 condition |
| ACSL4acyl-CoA synthetase long chain family member 4 | Sometimes (5–29%) | In 1 condition |
| ADAadenosine deaminase | Sometimes (5–29%) | In 1 condition |
| AMMECR1AMMECR nuclear protein 1 | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 1 condition |
| DCLRE1CDNA cross-link repair 1C | Sometimes (5–29%) | In 1 condition |
| FBN1fibrillin 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 |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Sometimes (5–29%) | In 1 condition |
| NUDCD3NudC domain containing 3 | Sometimes (5–29%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | 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 |
| SKISKI proto-oncogene | Sometimes (5–29%) | 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
- Broad wide portion of long bone62 genes
- Irregular wide portion of a long bone47 genes
- Metaphyseal dysplasia26 genes
- Metaphyseal cupping20 genes
- Increased bone density in wide portion of long bone10 genes
- Metaphyseal striations9 genes
- Enlarged wide portion of a long bone8 genes
- Metaphyseal spurs8 genes
- Corner fracture of metaphysis2 genes
- Dense metaphyseal bands2 genes
- Metaphyseal enchondromatosis2 genes
- Abnormal metaphyseal trabeculation1 gene
- Abnormal metaphyseal vascular invasion1 gene
- Abnormality of the wide portion of the lower-limb bone1 gene
- Dumbbell shaped wide portion of long bone1 gene
- Metaphyseal chevron deformity1 gene
- Metaphyseal rarefaction1 gene
- Metaphyseal undermodelling1 gene
- Abnormality of the wide portion of upper limb bone
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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