Trait
Abnormality of the chest
Clinical name: Abnormal thorax morphology
Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
Summary
- Also called
- Abnormality of the thorax, Structural abnormality of the chest wall
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test49 genes linked to Abnormality of the chest
Changes in these genes cause rare conditions in which Abnormality of the chest 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 |
|---|---|---|
| LMNAlamin A/C | Very often (80–99%) | In 2 conditions |
| WRNWRN RecQ like helicase | Very often (80–99%) | In 1 condition |
| ABCA3ATP binding cassette subfamily A member 3 | Often (30–79%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Often (30–79%) | In 2 conditions |
| ANTXR1ANTXR cell adhesion molecule 1 | Often (30–79%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 1 condition |
| CTBP1C-terminal binding protein 1 | Often (30–79%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Often (30–79%) | In 1 condition |
| KLHL40kelch like family member 40 | Often (30–79%) | In 1 condition |
| KLHL41kelch like family member 41 | Often (30–79%) | In 2 conditions |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 1 condition |
| LMOD3leiomodin 3 | Often (30–79%) | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Often (30–79%) | In 1 condition |
| NEBnebulin | Often (30–79%) | In 2 conditions |
| NELFAnegative elongation factor complex member A | Often (30–79%) | In 1 condition |
| NF1neurofibromin 1 | Often (30–79%) | In 1 condition |
| NOTCH3notch receptor 3 | Often (30–79%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Often (30–79%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Often (30–79%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | In 1 condition |
| SFTPBsurfactant protein B | Often (30–79%) | In 1 condition |
| SFTPCsurfactant protein C | Often (30–79%) | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Often (30–79%) | In 1 condition |
| TPM3tropomyosin 3 | Often (30–79%) | In 1 condition |
| VDRvitamin D receptor | Often (30–79%) | In 1 condition |
| ABCC6ATP binding cassette subfamily C member 6 | Sometimes (5–29%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Sometimes (5–29%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Sometimes (5–29%) | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Sometimes (5–29%) | In 1 condition |
| GDAP1ganglioside induced differentiation associated protein 1 | Sometimes (5–29%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Sometimes (5–29%) | In 1 condition |
| HIRAhistone cell cycle regulator | Sometimes (5–29%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Sometimes (5–29%) | In 1 condition |
| MAFMAF bZIP transcription factor | Sometimes (5–29%) | In 1 condition |
| MYSM1Myb like, SWIRM and MPN domains 1 | Sometimes (5–29%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Sometimes (5–29%) | In 1 condition |
| SETBP1SET binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SIM1SIM bHLH transcription factor 1 | Sometimes (5–29%) | In 1 condition |
Show 9 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sometimes (5–29%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Sometimes (5–29%) | In 1 condition |
| CYP21A2cytochrome P450 family 21 subfamily A member 2 | Not recorded | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Not recorded | In 1 condition |
| GJA1gap junction protein alpha 1 | Not recorded | In 1 condition |
| GLE1GLE1 RNA export mediator | Not recorded | In 1 condition |
| SFRP4secreted frizzled related protein 4 | Not recorded | In 1 condition |
| SLC17A5solute carrier family 17 member 5 | 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.
Narrower traits
- Abnormality of the sternum57 genes
- Shorter than typical length between neck and abdomen51 genes
- Small chest47 genes
- Abnormal collarbone32 genes
- Abnormality of the shoulder17 genes
- Abnormality of the rib cage11 genes
- Abnormal thoracic spine morphology2 genes
- Abnormality of the shoulder blade2 genes
- Absent/small outermost thorax bone2 genes
- Thoracoabdominal wall defect1 gene
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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