Tunnus
Thin skin
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Kokkuvõte
- Kehasüsteem
- Abnormality of the integument
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Thin skin, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test93 geeni on seotud tunnusega Thin skin
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Thin 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 |
|---|---|---|
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Alati | Esineb 2 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Alati | Esineb 2 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alati | Esineb 3 haiguses |
| UBE3Bubiquitin protein ligase E3B | Alati | Esineb 1 haiguses |
| ZMPSTE24zinc metallopeptidase STE24 | Alati | Esineb 2 haiguses |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B4GALT7beta-1,4-galactosyltransferase 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL1A1collagen type I alpha 1 chain | Väga sageli (80–99%) | Esineb 3 haiguses |
| COL1A2collagen type I alpha 2 chain | Väga sageli (80–99%) | Esineb 4 haiguses |
| COL3A1collagen type III alpha 1 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| DDB2damage specific DNA binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EDARectodysplasin A receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| EDARADDEDAR associated via death domain | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Väga sageli (80–99%) | Esineb 1 haiguses |
| FLNAfilamin A | Väga sageli (80–99%) | Esineb 2 haiguses |
| GORABgolgin, RAB6 interacting | Väga sageli (80–99%) | Esineb 1 haiguses |
| KDF1keratinocyte differentiation factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRT2keratin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LMNAlamin A/C | Väga sageli (80–99%) | Esineb 4 haiguses |
| LRP6LDL receptor related protein 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEPDpeptidase D | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC39A13solute carrier family 39 member 13 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SMARCAD1SNF2 related chromatin remodeling ATPase with DExD box 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TP63tumor protein p63 | Väga sageli (80–99%) | Esineb 3 haiguses |
| TRAF6TNF receptor associated factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| XPAXPA, DNA damage recognition and repair factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARF1ARF GTPase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Sageli (30–79%) | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Sageli (30–79%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| C1Rcomplement C1r | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 53 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| C1Scomplement C1s | Sageli (30–79%) | Esineb 1 haiguses |
| CAV1caveolin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CDH23cadherin related 23 | Sageli (30–79%) | Esineb 1 haiguses |
| COL7A1collagen type VII alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EMILIN1elastin microfibril interfacer 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ERMARDER membrane associated RNA degradation | Sageli (30–79%) | Esineb 1 haiguses |
| MAP1Bmicrotubule associated protein 1B | Sageli (30–79%) | Esineb 1 haiguses |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Sageli (30–79%) | Esineb 1 haiguses |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Sageli (30–79%) | Esineb 2 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| PPARGperoxisome proliferator activated receptor gamma | Sageli (30–79%) | Esineb 1 haiguses |
| PRKD1protein kinase D1 | Sageli (30–79%) | Esineb 1 haiguses |
| PROCprotein C, inactivator of coagulation factors Va and VIIIa | Sageli (30–79%) | Esineb 1 haiguses |
| PROS1protein S | Sageli (30–79%) | Esineb 1 haiguses |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RECQLRecQ like helicase | Sageli (30–79%) | Esineb 1 haiguses |
| SLC2A10solute carrier family 2 member 10 | Sageli (30–79%) | Esineb 2 haiguses |
| SOX18SRY-box transcription factor 18 | Sageli (30–79%) | Esineb 1 haiguses |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TNXBtenascin XB | Sageli (30–79%) | Esineb 1 haiguses |
| TP53tumor protein p53 | Sageli (30–79%) | Esineb 1 haiguses |
| TSHZ3teashirt zinc finger homeobox 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TWIST2twist family bHLH transcription factor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| USP48ubiquitin specific peptidase 48 | Sageli (30–79%) | Esineb 1 haiguses |
| USP8ubiquitin specific peptidase 8 | Sageli (30–79%) | Esineb 2 haiguses |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHX30DExH-box helicase 30 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IPO8importin 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTAPmethylthioadenosine phosphorylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD3SMAD family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFB2transforming growth factor beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFB3transforming growth factor beta 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFBR1transforming growth factor beta receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WNT10AWnt family member 10A | Mõnikord (5–29%) | Esineb 1 haiguses |
| AIPAHR interacting HSP90 co-chaperone | Pole registreeritud | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Pole registreeritud | Esineb 1 haiguses |
| CTC1CST telomere replication complex component 1 | Pole registreeritud | Esineb 1 haiguses |
| EDAectodysplasin A | Pole registreeritud | Esineb 1 haiguses |
| GNASGNAS complex locus | Pole registreeritud | Esineb 1 haiguses |
| LIFRLIF receptor subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| ORC1origin recognition complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| PDE11Aphosphodiesterase 11A | Pole registreeritud | Esineb 1 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Pole registreeritud | Esineb 1 haiguses |
| PTDSS1phosphatidylserine synthase 1 | Pole registreeritud | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | 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.
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