Požymis
Thickening of palms and soles
Klinikinis pavadinimas: Palmoplantar keratoderma
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Santrauka
- Taip pat vadinama
- Keratoderma, Palmar and plantar keratoderma
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Thickening of palms and soles, and the rest of your genome, with one test.
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Įsigyti savo Genome Test107 genų susiję su Thickening of palms and soles
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Thickening of palms and soles. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| DSG1desmoglein 1 | Visada | 3 ligose |
| DSPdesmoplakin | Visada | 4 ligose |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Visada | 1 ligoje |
| GJA1gap junction protein alpha 1 | Visada | 4 ligose |
| GJB2gap junction protein beta 2 | Visada | 5 ligose |
| GRHL2grainyhead like transcription factor 2 | Visada | 1 ligoje |
| JUPjunction plakoglobin | Visada | 2 ligose |
| KANK2KN motif and ankyrin repeat domains 2 | Visada | 1 ligoje |
| KRT1keratin 1 | Visada | 5 ligose |
| KRT16keratin 16 | Visada | 2 ligose |
| NIPAL4NIPA like domain containing 4 | Visada | 3 ligose |
| NLRP1NLR family pyrin domain containing 1 | Visada | 1 ligoje |
| PERPp53 apoptosis effector related to PMP22 | Visada | 2 ligose |
| PNPLA1patatin like domain 1, omega-hydroxyceramide transacylase | Visada | 2 ligose |
| SNAP29synaptosome associated protein 29 | Visada | 1 ligoje |
| TP63tumor protein p63 | Visada | 2 ligose |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Visada | 2 ligose |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Visada | 2 ligose |
| WNT10AWnt family member 10A | Visada | 2 ligose |
| AAGABalpha and gamma adaptin binding protein | Labai dažnai (80–99%) | 1 ligoje |
| ABCA12ATP binding cassette subfamily A member 12 | Labai dažnai (80–99%) | 3 ligose |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Labai dažnai (80–99%) | 3 ligose |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Labai dažnai (80–99%) | 4 ligose |
| ASPRV1aspartic peptidase retroviral like 1 | Labai dažnai (80–99%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| CARD14caspase recruitment domain family member 14 | Labai dažnai (80–99%) | 2 ligose |
| CFTRCF transmembrane conductance regulator | Labai dažnai (80–99%) | 1 ligoje |
| COL14A1collagen type XIV alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| CTSCcathepsin C | Labai dažnai (80–99%) | 2 ligose |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Labai dažnai (80–99%) | 2 ligose |
| FERMT1FERM domain containing kindlin 1 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 1 ligoje |
| KDSR3-ketodihydrosphingosine reductase | Labai dažnai (80–99%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| KRT14keratin 14 | Labai dažnai (80–99%) | 2 ligose |
| KRT17keratin 17 | Labai dažnai (80–99%) | 1 ligoje |
| KRT2keratin 2 | Labai dažnai (80–99%) | 1 ligoje |
| KRT5keratin 5 | Labai dažnai (80–99%) | 1 ligoje |
| KRT6Akeratin 6A | Labai dažnai (80–99%) | 2 ligose |
| KRT6Bkeratin 6B | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 67 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| KRT83keratin 83 | Labai dažnai (80–99%) | 1 ligoje |
| LIPNlipase family member N | Labai dažnai (80–99%) | 1 ligoje |
| LORICRINloricrin cornified envelope precursor protein | Labai dažnai (80–99%) | 2 ligose |
| LSSlanosterol synthase | Labai dažnai (80–99%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Labai dažnai (80–99%) | 4 ligose |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Labai dažnai (80–99%) | 1 ligoje |
| PEPDpeptidase D | Labai dažnai (80–99%) | 1 ligoje |
| PKP1plakophilin 1 | Labai dažnai (80–99%) | 1 ligoje |
| POMPproteasome maturation protein | Labai dažnai (80–99%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Labai dažnai (80–99%) | 1 ligoje |
| RHBDF2rhomboid 5 homolog 2 | Labai dažnai (80–99%) | 1 ligoje |
| RSPO1R-spondin 1 | Labai dažnai (80–99%) | 2 ligose |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Labai dažnai (80–99%) | 2 ligose |
| SERPINB7serpin family B member 7 | Labai dažnai (80–99%) | 1 ligoje |
| SLURP1secreted LY6/PLAUR domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| SMARCAD1SNF2 related chromatin remodeling ATPase with DExD box 1 | Labai dažnai (80–99%) | 2 ligose |
| SULT2B1sulfotransferase family 2B member 1 | Labai dažnai (80–99%) | 2 ligose |
| TATtyrosine aminotransferase | Labai dažnai (80–99%) | 1 ligoje |
| TGM1transglutaminase 1 | Labai dažnai (80–99%) | 2 ligose |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Labai dažnai (80–99%) | 1 ligoje |
| AAASaladin WD repeat nucleoporin | Dažnai (30–79%) | 1 ligoje |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Dažnai (30–79%) | 1 ligoje |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Dažnai (30–79%) | 1 ligoje |
| CD28CD28 molecule | Dažnai (30–79%) | 1 ligoje |
| CERS3ceramide synthase 3 | Dažnai (30–79%) | 1 ligoje |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Dažnai (30–79%) | 1 ligoje |
| GJB6gap junction protein beta 6 | Dažnai (30–79%) | 2 ligose |
| GMPPAGDP-mannose pyrophosphorylase A | Dažnai (30–79%) | 1 ligoje |
| KRT10keratin 10 | Dažnai (30–79%) | 2 ligose |
| PLECplectin | Dažnai (30–79%) | 1 ligoje |
| PORCNporcupine O-acyltransferase | Dažnai (30–79%) | 1 ligoje |
| SASH1SAM and SH3 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| TNFRSF1BTNF receptor superfamily member 1B | Dažnai (30–79%) | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Dažnai (30–79%) | 1 ligoje |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Kartais (5–29%) | 1 ligoje |
| COL17A1collagen type XVII alpha 1 chain | Kartais (5–29%) | 2 ligose |
| CTC1CST telomere replication complex component 1 | Kartais (5–29%) | 1 ligoje |
| DKC1dyskerin pseudouridine synthase 1 | Kartais (5–29%) | 1 ligoje |
| HPGD15-hydroxyprostaglandin dehydrogenase | Kartais (5–29%) | 1 ligoje |
| ITGB4integrin subunit beta 4 | Kartais (5–29%) | 1 ligoje |
| LAMA3laminin subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| LAMB3laminin subunit beta 3 | Kartais (5–29%) | 1 ligoje |
| LAMC2laminin subunit gamma 2 | Kartais (5–29%) | 1 ligoje |
| LRP1LDL receptor related protein 1 | Kartais (5–29%) | 1 ligoje |
| MCOLN1mucolipin TRP cation channel 1 | Kartais (5–29%) | 1 ligoje |
| NHP2NHP2 ribonucleoprotein | Kartais (5–29%) | 1 ligoje |
| NOP10NOP10 ribonucleoprotein | Kartais (5–29%) | 1 ligoje |
| NPM1nucleophosmin 1 | Kartais (5–29%) | 1 ligoje |
| PARNpoly(A)-specific ribonuclease | Kartais (5–29%) | 1 ligoje |
| RTEL1regulator of telomere elongation helicase 1 | Kartais (5–29%) | 1 ligoje |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Kartais (5–29%) | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Kartais (5–29%) | 1 ligoje |
| STSsteroid sulfatase | Kartais (5–29%) | 1 ligoje |
| TERCtelomerase RNA component | Kartais (5–29%) | 1 ligoje |
| TERTtelomerase reverse transcriptase | Kartais (5–29%) | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Kartais (5–29%) | 1 ligoje |
| TYMSthymidylate synthetase | Kartais (5–29%) | 1 ligoje |
| WRAP53WD repeat containing antisense to TP53 | Kartais (5–29%) | 1 ligoje |
| COL7A1collagen type VII alpha 1 chain | Neužfiksuota | 4 ligose |
| CSTAcystatin A | Neužfiksuota | 1 ligoje |
| DSC2desmocollin 2 | Neužfiksuota | 1 ligoje |
| KLK11kallikrein related peptidase 11 | Neužfiksuota | 1 ligoje |
| KRT6Ckeratin 6C | Neužfiksuota | 1 ligoje |
| MMP1matrix metallopeptidase 1 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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