Požymis
Ichthyosis
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Santrauka
- Taip pat vadinama
- Ichthyosiform abnormality of the skin, Ichthyotic skin
- 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 Test142 genų susiję su Ichthyosis
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Ichthyosis. 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 |
|---|---|---|
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Visada | 1 ligoje |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Visada | 4 ligose |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Visada | 2 ligose |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Visada | 2 ligose |
| CLDN1claudin 1 | Visada | 2 ligose |
| DSG1desmoglein 1 | Visada | 1 ligoje |
| ELOVL1ELOVL fatty acid elongase 1 | Visada | 1 ligoje |
| ELOVL4ELOVL fatty acid elongase 4 | Visada | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Visada | 2 ligose |
| FITM2fat storage inducing transmembrane protein 2 | Visada | 1 ligoje |
| GJB2gap junction protein beta 2 | Visada | 3 ligose |
| GTF2E2general transcription factor IIE subunit 2 | Visada | 2 ligose |
| KRT1keratin 1 | Visada | 3 ligose |
| KRT10keratin 10 | Visada | 3 ligose |
| LIPNlipase family member N | Visada | 2 ligose |
| MARS1methionyl-tRNA synthetase 1 | Visada | 1 ligoje |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Visada | 1 ligoje |
| MSMO1methylsterol monooxygenase 1 | Visada | 1 ligoje |
| OSBPL2oxysterol binding protein like 2 | Visada | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Visada | 2 ligose |
| PSAT1phosphoserine aminotransferase 1 | Visada | 2 ligose |
| RNU6ATACRNA, U6atac small nuclear | Visada | 1 ligoje |
| SNAP29synaptosome associated protein 29 | Visada | 2 ligose |
| SPINK5serine peptidase inhibitor Kazal type 5 | Visada | 1 ligoje |
| STSsteroid sulfatase | Visada | 3 ligose |
| TGM1transglutaminase 1 | Visada | 5 ligose |
| VPS33BVPS33B late endosome and lysosome associated | Visada | 3 ligose |
| ABCA12ATP binding cassette subfamily A member 12 | Labai dažnai (80–99%) | 3 ligose |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Labai dažnai (80–99%) | 3 ligose |
| ASPRV1aspartic peptidase retroviral like 1 | Labai dažnai (80–99%) | 1 ligoje |
| CERS3ceramide synthase 3 | 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%) | 2 ligose |
| GBA1glucosylceramidase beta 1 | Labai dažnai (80–99%) | 3 ligose |
| KRT2keratin 2 | Labai dažnai (80–99%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Labai dažnai (80–99%) | 2 ligose |
| NIPAL4NIPA like domain containing 4 | Labai dažnai (80–99%) | 2 ligose |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Labai dažnai (80–99%) | 4 ligose |
| PHYHphytanoyl-CoA 2-hydroxylase | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 102 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PNPLA1patatin like domain 1, omega-hydroxyceramide transacylase | Labai dažnai (80–99%) | 1 ligoje |
| POMPproteasome maturation protein | Labai dažnai (80–99%) | 2 ligose |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Labai dažnai (80–99%) | 3 ligose |
| SGPL1sphingosine-1-phosphate lyase 1 | Labai dažnai (80–99%) | 1 ligoje |
| SLC27A4solute carrier family 27 member 4 | Labai dažnai (80–99%) | 1 ligoje |
| ST14ST14 transmembrane serine protease matriptase | Labai dažnai (80–99%) | 1 ligoje |
| STIM1stromal interaction molecule 1 | Labai dažnai (80–99%) | 2 ligose |
| SULT2B1sulfotransferase family 2B member 1 | Labai dažnai (80–99%) | 2 ligose |
| SUMF1sulfatase modifying factor 1 | Labai dažnai (80–99%) | 2 ligose |
| AHSGalpha 2-HS glycoprotein | Dažnai (30–79%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 2 ligose |
| CSTAcystatin A | Dažnai (30–79%) | 2 ligose |
| DOLKdolichol kinase | Dažnai (30–79%) | 2 ligose |
| EBPEBP cholestenol delta-isomerase | Dažnai (30–79%) | 3 ligose |
| GTF2H5general transcription factor IIH subunit 5 | Dažnai (30–79%) | 2 ligose |
| ITGB6integrin subunit beta 6 | Dažnai (30–79%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 3 ligose |
| LSSlanosterol synthase | Dažnai (30–79%) | 2 ligose |
| MAP2K1mitogen-activated protein kinase kinase 1 | Dažnai (30–79%) | 2 ligose |
| MAP2K2mitogen-activated protein kinase kinase 2 | Dažnai (30–79%) | 2 ligose |
| PHGDHphosphoglycerate dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Dažnai (30–79%) | 2 ligose |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Dažnai (30–79%) | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Dažnai (30–79%) | 2 ligose |
| TARS1threonyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| TGM5transglutaminase 5 | Dažnai (30–79%) | 1 ligoje |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Dažnai (30–79%) | 2 ligose |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ANOS1anosmin 1 | Kartais (5–29%) | 1 ligoje |
| CARD14caspase recruitment domain family member 14 | Kartais (5–29%) | 1 ligoje |
| CARMIL2capping protein regulator and myosin 1 linker 2 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CCDC141coiled-coil domain containing 141 | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Kartais (5–29%) | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Kartais (5–29%) | 2 ligose |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DCCDCC netrin 1 receptor | Kartais (5–29%) | 1 ligoje |
| DHRSXdehydrogenase/reductase X-linked | Kartais (5–29%) | 1 ligoje |
| DSPdesmoplakin | Kartais (5–29%) | 1 ligoje |
| DUSP6dual specificity phosphatase 6 | Kartais (5–29%) | 1 ligoje |
| EMDemerin | Kartais (5–29%) | 1 ligoje |
| EMX2empty spiracles homeobox 2 | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| FEZF1FEZ family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| FGF17fibroblast growth factor 17 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 1 ligoje |
| FHL1four and a half LIM domains 1 | Kartais (5–29%) | 1 ligoje |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Kartais (5–29%) | 1 ligoje |
| GINS1GINS complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| HESX1HESX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| IL17RDinterleukin 17 receptor D | Kartais (5–29%) | 1 ligoje |
| LMNAlamin A/C | Kartais (5–29%) | 2 ligose |
| MPDU1mannose-P-dolichol utilization defect 1 | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| NDNFneuron derived neurotrophic factor | Kartais (5–29%) | 1 ligoje |
| NEK9NIMA related kinase 9 | Kartais (5–29%) | 1 ligoje |
| NLRP3NLR family pyrin domain containing 3 | Kartais (5–29%) | 1 ligoje |
| NOD2nucleotide binding oligomerization domain containing 2 | Kartais (5–29%) | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Kartais (5–29%) | 2 ligose |
| PEX10peroxisomal biogenesis factor 10 | Kartais (5–29%) | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Kartais (5–29%) | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Kartais (5–29%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Kartais (5–29%) | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Kartais (5–29%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Kartais (5–29%) | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Kartais (5–29%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Kartais (5–29%) | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Kartais (5–29%) | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Kartais (5–29%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Kartais (5–29%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Kartais (5–29%) | 2 ligose |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Kartais (5–29%) | 1 ligoje |
| PROK2prokineticin 2 | Kartais (5–29%) | 1 ligoje |
| PROKR2prokineticin receptor 2 | Kartais (5–29%) | 1 ligoje |
| RIN2Ras and Rab interactor 2 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| SEMA3Asemaphorin 3A | Kartais (5–29%) | 1 ligoje |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Kartais (5–29%) | 1 ligoje |
| SLC29A3solute carrier family 29 member 3 | Kartais (5–29%) | 1 ligoje |
| SLURP1secreted LY6/PLAUR domain containing 1 | Kartais (5–29%) | 2 ligose |
| SOX10SRY-box transcription factor 10 | Kartais (5–29%) | 1 ligoje |
| SPRY4sprouty RTK signaling antagonist 4 | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 1 ligoje |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Kartais (5–29%) | 1 ligoje |
| TACR3tachykinin receptor 3 | Kartais (5–29%) | 1 ligoje |
| TMEM43transmembrane protein 43 | Kartais (5–29%) | 1 ligoje |
| WDR11WD repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Retai (1–4 %) | 1 ligoje |
| EFL1elongation factor like GTPase 1 | Retai (1–4 %) | 1 ligoje |
| SBDSSBDS ribosome maturation factor | Retai (1–4 %) | 1 ligoje |
| ARSLarylsulfatase L | Neužfiksuota | 1 ligoje |
| CHKBcholine kinase beta | Neužfiksuota | 1 ligoje |
| COL4A3collagen type IV alpha 3 chain | Neužfiksuota | 1 ligoje |
| COL4A4collagen type IV alpha 4 chain | Neužfiksuota | 1 ligoje |
| COL4A5collagen type IV alpha 5 chain | Neužfiksuota | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| IL2RBinterleukin 2 receptor subunit beta | Neužfiksuota | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Neužfiksuota | 2 ligose |
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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