Tunnus
Blue discoloration of the skin
Kliiniline nimetus: Cyanosis
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
Kokkuvõte
- Kehasüsteem
- Abnormality of the integument
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Blue discoloration of the skin, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test65 geeni on seotud tunnusega Blue discoloration of the skin
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Blue discoloration of the skin. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CAPNS1calpain small subunit 1 | Alati | Esineb 1 haiguses |
| CIROZciliated left-right organizer protein containing ZP-N domains | Alati | Esineb 1 haiguses |
| CYB5R3cytochrome b5 reductase 3 | Alati | Esineb 2 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| GCSHglycine cleavage system protein H | Alati | Esineb 1 haiguses |
| HBG2hemoglobin subunit gamma 2 | Alati | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Alati | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Alati | Esineb 1 haiguses |
| RFC4replication factor C subunit 4 | Alati | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 1 haiguses |
| SFTPCsurfactant protein C | Alati | Esineb 2 haiguses |
| SOX17SRY-box transcription factor 17 | Alati | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alati | Esineb 1 haiguses |
| CYB5Acytochrome b5 type A | Väga sageli (80–99%) | Esineb 2 haiguses |
| PLXND1plexin D1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCA3ATP binding cassette subfamily A member 3 | Sageli (30–79%) | Esineb 2 haiguses |
| ABCC6ATP binding cassette subfamily C member 6 | Sageli (30–79%) | Esineb 1 haiguses |
| EIF2AK4eukaryotic translation initiation factor 2 alpha kinase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LMNAlamin A/C | Sageli (30–79%) | Esineb 2 haiguses |
| MYH7myosin heavy chain 7 | Sageli (30–79%) | Esineb 1 haiguses |
| NUP214nucleoporin 214 | Sageli (30–79%) | Esineb 1 haiguses |
| PLD1phospholipase D1 | Sageli (30–79%) | Esineb 1 haiguses |
| RBM10RNA binding motif protein 10 | Sageli (30–79%) | Esineb 1 haiguses |
| SFTPBsurfactant protein B | Sageli (30–79%) | Esineb 2 haiguses |
| SLC18A3solute carrier family 18 member A3 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC25A3solute carrier family 25 member 3 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC2A1solute carrier family 2 member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM260transmembrane protein 260 | Sageli (30–79%) | Esineb 1 haiguses |
| FBXO22F-box protein 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTPBP3GTP binding protein 3, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL7kelch like family member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CYBmitochondrially encoded cytochrome b | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRRT2proline rich transmembrane protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 25 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PUS3pseudouridine synthase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A20solute carrier family 25 member 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC34A2solute carrier family 34 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX9SRY-box transcription factor 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TLL1tolloid like 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TXNDC15thioredoxin domain containing 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZMPSTE24zinc metallopeptidase STE24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACTC1actin alpha cardiac muscle 1 | Harva (1–4%) | Esineb 1 haiguses |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Harva (1–4%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Harva (1–4%) | Esineb 1 haiguses |
| GATA6GATA binding protein 6 | Harva (1–4%) | Esineb 1 haiguses |
| MYH6myosin heavy chain 6 | Harva (1–4%) | Esineb 1 haiguses |
| NKX2-5NK2 homeobox 5 | Harva (1–4%) | Esineb 1 haiguses |
| TBX20T-box transcription factor 20 | Harva (1–4%) | Esineb 1 haiguses |
| ACVRL1activin A receptor like type 1 | Pole registreeritud | Esineb 1 haiguses |
| ENGendoglin | Pole registreeritud | Esineb 1 haiguses |
| HBA1hemoglobin subunit alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| HBBhemoglobin subunit beta | Pole registreeritud | Esineb 1 haiguses |
| MMP21matrix metallopeptidase 21 | Pole registreeritud | Esineb 1 haiguses |
| PCK1phosphoenolpyruvate carboxykinase 1 | Pole registreeritud | Esineb 1 haiguses |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Pole registreeritud | Esineb 1 haiguses |
| ZIC3Zic family zinc finger 3 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast