Trait
Facial puffiness
Clinical name: Facial edema
Summary
- Also called
- Facial swelling, Facial oedema, Swelling of the face
Reference genomeGRCh38hg38
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Get my Genome Test35 genes linked to Facial puffiness
Changes in these genes cause rare conditions in which Facial puffiness 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 |
|---|---|---|
| MYOFmyoferlin | Always | In 1 condition |
| SPINK5serine peptidase inhibitor Kazal type 5 | Always | In 1 condition |
| KNG1kininogen 1 | Very often (80–99%) | In 1 condition |
| SERPING1serpin family G member 1 | Very often (80–99%) | In 1 condition |
| XPNPEP2X-prolyl aminopeptidase 2 | Very often (80–99%) | In 1 condition |
| FOXE1forkhead box E1 | Often (30–79%) | In 1 condition |
| HESX1HESX homeobox 1 | Often (30–79%) | In 1 condition |
| LHX3LIM homeobox 3 | Often (30–79%) | In 1 condition |
| LHX4LIM homeobox 4 | Often (30–79%) | In 1 condition |
| NKX2-1NK2 homeobox 1 | Often (30–79%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Often (30–79%) | In 1 condition |
| PAX8paired box 8 | Often (30–79%) | In 1 condition |
| POU1F1POU class 1 homeobox 1 | Often (30–79%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Often (30–79%) | In 1 condition |
| SLC26A4solute carrier family 26 member 4 | Often (30–79%) | In 1 condition |
| TSHBthyroid stimulating hormone subunit beta | Often (30–79%) | In 1 condition |
| TSHRthyroid stimulating hormone receptor | Often (30–79%) | In 1 condition |
| ALBalbumin | Sometimes (5–29%) | In 1 condition |
| ANAPC1anaphase promoting complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| DUOX2dual oxidase 2 | Sometimes (5–29%) | In 1 condition |
| DUOXA2dual oxidase maturation factor 2 | Sometimes (5–29%) | In 1 condition |
| EPHB4EPH receptor B4 | Sometimes (5–29%) | In 2 conditions |
| GJC2gap junction protein gamma 2 | Sometimes (5–29%) | In 1 condition |
| IYDiodotyrosine deiodinase | Sometimes (5–29%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Sometimes (5–29%) | In 1 condition |
| SLC5A5solute carrier family 5 member 5 | Sometimes (5–29%) | In 1 condition |
| TGthyroglobulin | Sometimes (5–29%) | In 1 condition |
| TPOthyroid peroxidase | Sometimes (5–29%) | In 1 condition |
| HAVCR2hepatitis A virus cellular receptor 2 | Rarely (1–4%) | In 1 condition |
| ANGPT1angiopoietin 1 | Not recorded | In 1 condition |
| F12coagulation factor XII | Not recorded | In 1 condition |
| HS3ST6heparan sulfate-glucosamine 3-sulfotransferase 6 | Not recorded | In 1 condition |
| NEU1neuraminidase 1 | Not recorded | In 1 condition |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Not recorded | In 1 condition |
| PLGplasminogen | 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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