Trait
Blue discoloration of the skin
Clinical name: Cyanosis
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
Summary
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Blue discoloration of the skin, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test65 genes linked to Blue discoloration of the skin
Changes in these genes cause rare conditions in which Blue discoloration of the skin 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 |
|---|---|---|
| CAPNS1calpain small subunit 1 | Always | In 1 condition |
| CIROZciliated left-right organizer protein containing ZP-N domains | Always | In 1 condition |
| CYB5R3cytochrome b5 reductase 3 | Always | In 2 conditions |
| DNM1Ldynamin 1L | Always | In 1 condition |
| GCSHglycine cleavage system protein H | Always | In 1 condition |
| HBG2hemoglobin subunit gamma 2 | Always | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Always | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Always | In 1 condition |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Always | In 1 condition |
| SFTPCsurfactant protein C | Always | In 2 conditions |
| SOX17SRY-box transcription factor 17 | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| CYB5Acytochrome b5 type A | Very often (80–99%) | In 2 conditions |
| PLXND1plexin D1 | Very often (80–99%) | In 1 condition |
| ABCA3ATP binding cassette subfamily A member 3 | Often (30–79%) | In 2 conditions |
| ABCC6ATP binding cassette subfamily C member 6 | Often (30–79%) | In 1 condition |
| EIF2AK4eukaryotic translation initiation factor 2 alpha kinase 4 | Often (30–79%) | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Often (30–79%) | In 1 condition |
| LMNAlamin A/C | Often (30–79%) | In 2 conditions |
| MYH7myosin heavy chain 7 | Often (30–79%) | In 1 condition |
| NUP214nucleoporin 214 | Often (30–79%) | In 1 condition |
| PLD1phospholipase D1 | Often (30–79%) | In 1 condition |
| RBM10RNA binding motif protein 10 | Often (30–79%) | In 1 condition |
| SFTPBsurfactant protein B | Often (30–79%) | In 2 conditions |
| SLC18A3solute carrier family 18 member A3 | Often (30–79%) | In 1 condition |
| SLC25A3solute carrier family 25 member 3 | Often (30–79%) | In 2 conditions |
| SLC2A1solute carrier family 2 member 1 | Often (30–79%) | In 1 condition |
| TMEM260transmembrane protein 260 | Often (30–79%) | In 1 condition |
| FBXO22F-box protein 22 | Sometimes (5–29%) | In 1 condition |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTPBP3GTP binding protein 3, mitochondrial | Sometimes (5–29%) | In 1 condition |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Sometimes (5–29%) | In 1 condition |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sometimes (5–29%) | In 1 condition |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Sometimes (5–29%) | In 1 condition |
| KLHL7kelch like family member 7 | Sometimes (5–29%) | In 1 condition |
| MT-CYBmitochondrially encoded cytochrome b | Sometimes (5–29%) | In 1 condition |
| PRRT2proline rich transmembrane protein 2 | Sometimes (5–29%) | In 1 condition |
Show 25 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PUS3pseudouridine synthase 3 | Sometimes (5–29%) | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sometimes (5–29%) | In 2 conditions |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sometimes (5–29%) | In 1 condition |
| SLC25A20solute carrier family 25 member 20 | Sometimes (5–29%) | In 1 condition |
| SLC34A2solute carrier family 34 member 2 | Sometimes (5–29%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Sometimes (5–29%) | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| TLL1tolloid like 1 | Sometimes (5–29%) | In 2 conditions |
| TXNDC15thioredoxin domain containing 15 | Sometimes (5–29%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Sometimes (5–29%) | In 1 condition |
| ACTC1actin alpha cardiac muscle 1 | Rarely (1–4%) | In 1 condition |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Rarely (1–4%) | In 1 condition |
| GATA4GATA binding protein 4 | Rarely (1–4%) | In 1 condition |
| GATA6GATA binding protein 6 | Rarely (1–4%) | In 1 condition |
| MYH6myosin heavy chain 6 | Rarely (1–4%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Rarely (1–4%) | In 1 condition |
| TBX20T-box transcription factor 20 | Rarely (1–4%) | In 1 condition |
| ACVRL1activin A receptor like type 1 | Not recorded | In 1 condition |
| ENGendoglin | Not recorded | In 1 condition |
| HBA1hemoglobin subunit alpha 1 | Not recorded | In 1 condition |
| HBBhemoglobin subunit beta | Not recorded | In 1 condition |
| MMP21matrix metallopeptidase 21 | Not recorded | In 1 condition |
| PCK1phosphoenolpyruvate carboxykinase 1 | Not recorded | In 1 condition |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Not recorded | In 1 condition |
| ZIC3Zic family zinc finger 3 | 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
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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks