Trait
Moon face
Clinical name: Moon facies
A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.
Summary
- Also called
- Puffy face, Puffy facies
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test15 genes linked to Moon face
Changes in these genes cause rare conditions in which Moon face 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 |
|---|---|---|
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Always | In 2 conditions |
| ARMC5armadillo repeat containing 5 | Very often (80–99%) | In 1 condition |
| GNASGNAS complex locus | Very often (80–99%) | In 1 condition |
| KDM1Alysine demethylase 1A | Very often (80–99%) | In 1 condition |
| ATRXATRX chromatin remodeler | Often (30–79%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| CDH23cadherin related 23 | Often (30–79%) | In 1 condition |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Often (30–79%) | In 1 condition |
| TP53tumor protein p53 | Often (30–79%) | In 1 condition |
| USP48ubiquitin specific peptidase 48 | Often (30–79%) | In 1 condition |
| USP8ubiquitin specific peptidase 8 | Often (30–79%) | In 1 condition |
| XYLT1xylosyltransferase 1 | Often (30–79%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| PDE11Aphosphodiesterase 11A | Sometimes (5–29%) | In 1 condition |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | 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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