Trait
Ecchymosis
A purpuric lesion that is larger than 1 cm in diameter.
Summary
- Also called
- Ecchymoses
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test60 genes linked to Ecchymosis
Changes in these genes cause rare conditions in which Ecchymosis 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 |
|---|---|---|
| F13A1coagulation factor XIII A chain | Always | In 2 conditions |
| GP6glycoprotein VI platelet | Always | In 1 condition |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Always | In 1 condition |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Always | In 1 condition |
| ITGA2Bintegrin subunit alpha 2b | Always | In 3 conditions |
| PLCG1phospholipase C gamma 1 | Always | In 1 condition |
| RUNX1RUNX family transcription factor 1 | Always | In 1 condition |
| TBXA2Rthromboxane A2 receptor | Always | In 1 condition |
| WASWASP actin nucleation promoting factor | Always | In 1 condition |
| BCORBCL6 corepressor | Often (30–79%) | In 1 condition |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Often (30–79%) | In 1 condition |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Often (30–79%) | In 1 condition |
| NABP1nucleic acid binding protein 1 | Often (30–79%) | In 1 condition |
| NPM1nucleophosmin 1 | Often (30–79%) | In 1 condition |
| NUMA1nuclear mitotic apparatus protein 1 | Often (30–79%) | In 1 condition |
| PMLPML nuclear body scaffold | Often (30–79%) | In 1 condition |
| PRF1perforin 1 | Often (30–79%) | In 2 conditions |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Often (30–79%) | In 1 condition |
| RARAretinoic acid receptor alpha | Often (30–79%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Often (30–79%) | In 1 condition |
| STAT5Bsignal transducer and activator of transcription 5B | Often (30–79%) | In 1 condition |
| STX11syntaxin 11 | Often (30–79%) | In 1 condition |
| STXBP2syntaxin binding protein 2 | Often (30–79%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Often (30–79%) | In 1 condition |
| UNC13Dunc-13 homolog D | Often (30–79%) | In 1 condition |
| ZBTB16zinc finger and BTB domain containing 16 | Often (30–79%) | In 1 condition |
| ATRXATRX chromatin remodeler | Sometimes (5–29%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| CALRcalreticulin | Sometimes (5–29%) | In 1 condition |
| CD109CD109 molecule | Sometimes (5–29%) | In 1 condition |
| CDH23cadherin related 23 | Sometimes (5–29%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL5A1collagen type V alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL5A2collagen type V alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| F13Bcoagulation factor XIII B chain | Sometimes (5–29%) | In 2 conditions |
| GGCXgamma-glutamyl carboxylase | Sometimes (5–29%) | In 2 conditions |
| GIMAP5GTPase, IMAP family member 5 | Sometimes (5–29%) | In 1 condition |
| GP1BAglycoprotein Ib platelet subunit alpha | Sometimes (5–29%) | In 2 conditions |
| GP1BBglycoprotein Ib platelet subunit beta | Sometimes (5–29%) | In 1 condition |
| IFNGinterferon gamma | Sometimes (5–29%) | In 1 condition |
Show 20 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ITGA2integrin subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| ITGB3integrin subunit beta 3 | Sometimes (5–29%) | In 2 conditions |
| JAK2Janus kinase 2 | Sometimes (5–29%) | In 1 condition |
| MPLMPL proto-oncogene, thrombopoietin receptor | Sometimes (5–29%) | In 1 condition |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Sometimes (5–29%) | In 1 condition |
| SBDSSBDS ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| TERCtelomerase RNA component | Sometimes (5–29%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Sometimes (5–29%) | In 1 condition |
| TET2tet methylcytosine dioxygenase 2 | Sometimes (5–29%) | In 1 condition |
| TP53tumor protein p53 | Sometimes (5–29%) | In 1 condition |
| USP48ubiquitin specific peptidase 48 | Sometimes (5–29%) | In 1 condition |
| USP8ubiquitin specific peptidase 8 | Sometimes (5–29%) | In 2 conditions |
| VKORC1vitamin K epoxide reductase complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Rarely (1–4%) | In 1 condition |
| AIPAHR interacting HSP90 co-chaperone | Not recorded | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Not recorded | In 1 condition |
| COL3A1collagen type III alpha 1 chain | Not recorded | In 1 condition |
| F2coagulation factor II, thrombin | Not recorded | In 1 condition |
| GFI1Bgrowth factor independent 1B transcriptional repressor | Not recorded | In 1 condition |
| P2RY12purinergic receptor P2Y12 | 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.
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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