Požymis
Hyperkeratosis
Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.
Santrauka
- Taip pat vadinama
- Epidermal hyperkeratosis
- Kūno sistema
- Abnormality of the integument
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test148 genų susiję su Hyperkeratosis
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Hyperkeratosis. 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 |
|---|---|---|
| ADAM10ADAM metallopeptidase domain 10 | Visada | 1 ligoje |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Visada | 2 ligose |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Visada | 3 ligose |
| CASTcalpastatin | Visada | 1 ligoje |
| CERS3ceramide synthase 3 | Visada | 1 ligoje |
| DCLRE1CDNA cross-link repair 1C | Visada | 1 ligoje |
| DSPdesmoplakin | Visada | 1 ligoje |
| ELOVL1ELOVL fatty acid elongase 1 | Visada | 1 ligoje |
| EXPH5exophilin 5 | Visada | 1 ligoje |
| GJA1gap junction protein alpha 1 | Visada | 3 ligose |
| GJB2gap junction protein beta 2 | Visada | 4 ligose |
| GLSglutaminase | Visada | 1 ligoje |
| IL1RNinterleukin 1 receptor antagonist | Visada | 1 ligoje |
| JUPjunction plakoglobin | Visada | 1 ligoje |
| KDSR3-ketodihydrosphingosine reductase | Visada | 2 ligose |
| KRT10keratin 10 | Visada | 3 ligose |
| KRT83keratin 83 | Visada | 1 ligoje |
| LIPNlipase family member N | Visada | 2 ligose |
| LORICRINloricrin cornified envelope precursor protein | Visada | 2 ligose |
| MAD1L1mitotic arrest deficient 1 like 1 | Visada | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Visada | 3 ligose |
| NDC1NDC1 transmembrane nucleoporin | Visada | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Visada | 2 ligose |
| OSBPL2oxysterol binding protein like 2 | Visada | 1 ligoje |
| PERPp53 apoptosis effector related to PMP22 | Visada | 1 ligoje |
| PPOXprotoporphyrinogen oxidase | Visada | 1 ligoje |
| RAG1recombination activating 1 | Visada | 1 ligoje |
| RAG2recombination activating 2 | Visada | 1 ligoje |
| RIGIRNA sensor RIG-I | Visada | 1 ligoje |
| SPINK5serine peptidase inhibitor Kazal type 5 | Visada | 2 ligose |
| SULT2B1sulfotransferase family 2B member 1 | Visada | 2 ligose |
| TRPS1transcriptional repressor GATA binding 1 | Visada | 1 ligoje |
| VEGFCvascular endothelial growth factor C | Visada | 1 ligoje |
| WNT10AWnt family member 10A | Visada | 1 ligoje |
| ABCA12ATP binding cassette subfamily A member 12 | Labai dažnai (80–99%) | 2 ligose |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Labai dažnai (80–99%) | 1 ligoje |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Labai dažnai (80–99%) | 2 ligose |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Labai dažnai (80–99%) | 3 ligose |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 108 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ASPRV1aspartic peptidase retroviral like 1 | Labai dažnai (80–99%) | 2 ligose |
| ATP2C1ATPase secretory pathway Ca2+ transporting 1 | Labai dažnai (80–99%) | 1 ligoje |
| CLEC7AC-type lectin domain containing 7A | Labai dažnai (80–99%) | 1 ligoje |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Labai dažnai (80–99%) | 1 ligoje |
| FLGfilaggrin | Labai dažnai (80–99%) | 1 ligoje |
| GJB3gap junction protein beta 3 | Labai dažnai (80–99%) | 1 ligoje |
| GJB4gap junction protein beta 4 | Labai dažnai (80–99%) | 1 ligoje |
| GLAgalactosidase alpha | Labai dažnai (80–99%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Labai dažnai (80–99%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| IL17Finterleukin 17F | Labai dažnai (80–99%) | 1 ligoje |
| IL17RAinterleukin 17 receptor A | Labai dažnai (80–99%) | 1 ligoje |
| IL17RCinterleukin 17 receptor C | Labai dažnai (80–99%) | 1 ligoje |
| INSRinsulin receptor | Labai dažnai (80–99%) | 3 ligose |
| KRT1keratin 1 | Labai dažnai (80–99%) | 3 ligose |
| KRT14keratin 14 | Labai dažnai (80–99%) | 2 ligose |
| KRT16keratin 16 | Labai dažnai (80–99%) | 1 ligoje |
| KRT5keratin 5 | Labai dažnai (80–99%) | 3 ligose |
| KRT9keratin 9 | Labai dažnai (80–99%) | 1 ligoje |
| LMNAlamin A/C | Labai dažnai (80–99%) | 2 ligose |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Labai dažnai (80–99%) | 1 ligoje |
| MVKmevalonate kinase | Labai dažnai (80–99%) | 1 ligoje |
| NAGAalpha-N-acetylgalactosaminidase | Labai dažnai (80–99%) | 3 ligose |
| NEU1neuraminidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| NIPAL4NIPA like domain containing 4 | Labai dažnai (80–99%) | 2 ligose |
| PEPDpeptidase D | Labai dažnai (80–99%) | 1 ligoje |
| PMVKphosphomevalonate kinase | Labai dažnai (80–99%) | 1 ligoje |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Labai dažnai (80–99%) | 2 ligose |
| STSsteroid sulfatase | Labai dažnai (80–99%) | 2 ligose |
| TATtyrosine aminotransferase | Labai dažnai (80–99%) | 1 ligoje |
| TGM1transglutaminase 1 | Labai dažnai (80–99%) | 1 ligoje |
| TP63tumor protein p63 | Labai dažnai (80–99%) | 2 ligose |
| TRAF3IP2TRAF3 interacting protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| ZMPSTE24zinc metallopeptidase STE24 | Labai dažnai (80–99%) | 2 ligose |
| ANAPC1anaphase promoting complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| ATL1atlastin GTPase 1 | Dažnai (30–79%) | 1 ligoje |
| ATL3atlastin GTPase 3 | Dažnai (30–79%) | 2 ligose |
| CDSNcorneodesmosin | Dažnai (30–79%) | 1 ligoje |
| COG6component of oligomeric golgi complex 6 | Dažnai (30–79%) | 1 ligoje |
| DDB2damage specific DNA binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| ECM1extracellular matrix protein 1 | Dažnai (30–79%) | 2 ligose |
| ELOVL4ELOVL fatty acid elongase 4 | Dažnai (30–79%) | 2 ligose |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Dažnai (30–79%) | 2 ligose |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Dažnai (30–79%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| ERCC5ERCC excision repair 5, endonuclease | Dažnai (30–79%) | 1 ligoje |
| FLT4fms related receptor tyrosine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 2 ligose |
| KRT74keratin 74 | Dažnai (30–79%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Dažnai (30–79%) | 2 ligose |
| MAP2K2mitogen-activated protein kinase kinase 2 | Dažnai (30–79%) | 2 ligose |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Dažnai (30–79%) | 3 ligose |
| POFUT1protein O-fucosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| POGLUT1protein O-glucosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| PSENENpresenilin enhancer, gamma-secretase subunit | Dažnai (30–79%) | 1 ligoje |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Dažnai (30–79%) | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Dažnai (30–79%) | 1 ligoje |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Dažnai (30–79%) | 1 ligoje |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Dažnai (30–79%) | 1 ligoje |
| VPS33BVPS33B late endosome and lysosome associated | Dažnai (30–79%) | 1 ligoje |
| WRNWRN RecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| XPAXPA, DNA damage recognition and repair factor | Dažnai (30–79%) | 1 ligoje |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Dažnai (30–79%) | 1 ligoje |
| AHSGalpha 2-HS glycoprotein | Kartais (5–29%) | 1 ligoje |
| CD28CD28 molecule | Kartais (5–29%) | 1 ligoje |
| CDH3cadherin 3 | Kartais (5–29%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL6A2collagen type VI alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| COL6A3collagen type VI alpha 3 chain | Kartais (5–29%) | 1 ligoje |
| COL7A1collagen type VII alpha 1 chain | Kartais (5–29%) | 2 ligose |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Kartais (5–29%) | 1 ligoje |
| DIP2BDIP2 acetate--CoA ligase B (putative) | Kartais (5–29%) | 1 ligoje |
| DKC1dyskerin pseudouridine synthase 1 | Kartais (5–29%) | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Kartais (5–29%) | 1 ligoje |
| DOLKdolichol kinase | Kartais (5–29%) | 1 ligoje |
| ELMO2engulfment and cell motility 2 | Kartais (5–29%) | 1 ligoje |
| ERMARDER membrane associated RNA degradation | Kartais (5–29%) | 1 ligoje |
| FERMT1FERM domain containing kindlin 1 | Kartais (5–29%) | 1 ligoje |
| GMPPAGDP-mannose pyrophosphorylase A | Kartais (5–29%) | 1 ligoje |
| HDAC6histone deacetylase 6 | Kartais (5–29%) | 1 ligoje |
| ITGB6integrin subunit beta 6 | Kartais (5–29%) | 1 ligoje |
| LSSlanosterol synthase | Kartais (5–29%) | 1 ligoje |
| MDFICMyoD family inhibitor domain containing | Kartais (5–29%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Kartais (5–29%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Kartais (5–29%) | 1 ligoje |
| TNFRSF1BTNF receptor superfamily member 1B | Kartais (5–29%) | 1 ligoje |
| TYRtyrosinase | Kartais (5–29%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Neužfiksuota | 1 ligoje |
| CARD14caspase recruitment domain family member 14 | Neužfiksuota | 1 ligoje |
| CSTAcystatin A | Neužfiksuota | 1 ligoje |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Neužfiksuota | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Neužfiksuota | 1 ligoje |
| GRHL2grainyhead like transcription factor 2 | Neužfiksuota | 1 ligoje |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Neužfiksuota | 1 ligoje |
| KITLGKIT ligand | Neužfiksuota | 1 ligoje |
| KLK11kallikrein related peptidase 11 | Neužfiksuota | 1 ligoje |
| MPDU1mannose-P-dolichol utilization defect 1 | Neužfiksuota | 1 ligoje |
| PNPLA1patatin like domain 1, omega-hydroxyceramide transacylase | Neužfiksuota | 1 ligoje |
| POLA1DNA polymerase alpha 1, catalytic subunit | Neužfiksuota | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Neužfiksuota | 1 ligoje |
| SERPINB8serpin family B member 8 | Neužfiksuota | 1 ligoje |
| SOX18SRY-box transcription factor 18 | Neužfiksuota | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Neužfiksuota | 1 ligoje |
| ST14ST14 transmembrane serine protease matriptase | Neužfiksuota | 1 ligoje |
| ZNF750zinc finger protein 750 | 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.
Siauresni požymiai
- Follicular hyperkeratosis32 genų
- Hyperkeratotic papule17 genų
- Plantar hyperkeratosis17 genų
- Palmar hyperkeratosis12 genų
- Thickened, discolored skin under nail8 genų
- Generalized hyperkeratosis7 genų
- Orthokeratotic hyperkeratosis7 genų
- Cobblestone-like hyperkeratosis5 genų
- Linear arrays of macular hyperkeratoses in flexural areas5 genų
- Hyperparakeratosis4 genų
- Perifollicular hyperkeratosis2 genų
- Gingival hyperkeratosis1 genas
- Hyperkeratosis over edematous areas1 genas
- Hyperkeratosis with erythema1 genas
- Periorificial hyperkeratosis1 genas
- Streaks of hyperkeratosis along each finger onto the palm1 genas
- Subungual hyperkeratotic fragments1 genas
Platesni požymiai
Iš kur tai žinoma
- 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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