Tunnus
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.
Kokkuvõte
- Teised nimetused
- Ichthyosiform abnormality of the skin, Ichthyotic skin
- Kehasüsteem
- Abnormality of the integument
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Ichthyosis, and the rest of your genome, with one test.
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Telli oma Genome Test142 geeni on seotud tunnusega Ichthyosis
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Ichthyosis. 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 |
|---|---|---|
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Alati | Esineb 1 haiguses |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Alati | Esineb 4 haiguses |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Alati | Esineb 2 haiguses |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Alati | Esineb 2 haiguses |
| CLDN1claudin 1 | Alati | Esineb 2 haiguses |
| DSG1desmoglein 1 | Alati | Esineb 1 haiguses |
| ELOVL1ELOVL fatty acid elongase 1 | Alati | Esineb 1 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Alati | Esineb 1 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Alati | Esineb 2 haiguses |
| FITM2fat storage inducing transmembrane protein 2 | Alati | Esineb 1 haiguses |
| GJB2gap junction protein beta 2 | Alati | Esineb 3 haiguses |
| GTF2E2general transcription factor IIE subunit 2 | Alati | Esineb 2 haiguses |
| KRT1keratin 1 | Alati | Esineb 3 haiguses |
| KRT10keratin 10 | Alati | Esineb 3 haiguses |
| LIPNlipase family member N | Alati | Esineb 2 haiguses |
| MARS1methionyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alati | Esineb 1 haiguses |
| MSMO1methylsterol monooxygenase 1 | Alati | Esineb 1 haiguses |
| OSBPL2oxysterol binding protein like 2 | Alati | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Alati | Esineb 2 haiguses |
| PSAT1phosphoserine aminotransferase 1 | Alati | Esineb 2 haiguses |
| RNU6ATACRNA, U6atac small nuclear | Alati | Esineb 1 haiguses |
| SNAP29synaptosome associated protein 29 | Alati | Esineb 2 haiguses |
| SPINK5serine peptidase inhibitor Kazal type 5 | Alati | Esineb 1 haiguses |
| STSsteroid sulfatase | Alati | Esineb 3 haiguses |
| TGM1transglutaminase 1 | Alati | Esineb 5 haiguses |
| VPS33BVPS33B late endosome and lysosome associated | Alati | Esineb 3 haiguses |
| ABCA12ATP binding cassette subfamily A member 12 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Väga sageli (80–99%) | Esineb 3 haiguses |
| ASPRV1aspartic peptidase retroviral like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CERS3ceramide synthase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FLGfilaggrin | Väga sageli (80–99%) | Esineb 2 haiguses |
| GBA1glucosylceramidase beta 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| KRT2keratin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NIPAL4NIPA like domain containing 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Väga sageli (80–99%) | Esineb 4 haiguses |
| PHYHphytanoyl-CoA 2-hydroxylase | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 102 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PNPLA1patatin like domain 1, omega-hydroxyceramide transacylase | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMPproteasome maturation protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SGPL1sphingosine-1-phosphate lyase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC27A4solute carrier family 27 member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ST14ST14 transmembrane serine protease matriptase | Väga sageli (80–99%) | Esineb 1 haiguses |
| STIM1stromal interaction molecule 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SULT2B1sulfotransferase family 2B member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SUMF1sulfatase modifying factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| AHSGalpha 2-HS glycoprotein | Sageli (30–79%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 2 haiguses |
| CSTAcystatin A | Sageli (30–79%) | Esineb 2 haiguses |
| DOLKdolichol kinase | Sageli (30–79%) | Esineb 2 haiguses |
| EBPEBP cholestenol delta-isomerase | Sageli (30–79%) | Esineb 3 haiguses |
| GTF2H5general transcription factor IIH subunit 5 | Sageli (30–79%) | Esineb 2 haiguses |
| ITGB6integrin subunit beta 6 | Sageli (30–79%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 3 haiguses |
| LSSlanosterol synthase | Sageli (30–79%) | Esineb 2 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sageli (30–79%) | Esineb 2 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SRD5A3steroid 5 alpha-reductase 3 | Sageli (30–79%) | Esineb 2 haiguses |
| TARS1threonyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TGM5transglutaminase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Sageli (30–79%) | Esineb 2 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANOS1anosmin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARD14caspase recruitment domain family member 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARMIL2capping protein regulator and myosin 1 linker 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCDC141coiled-coil domain containing 141 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CWC27CWC27 spliceosome associated cyclophilin | Mõnikord (5–29%) | Esineb 2 haiguses |
| DBR1debranching RNA lariats 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DCCDCC netrin 1 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHRSXdehydrogenase/reductase X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| DSPdesmoplakin | Mõnikord (5–29%) | Esineb 1 haiguses |
| DUSP6dual specificity phosphatase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EMDemerin | Mõnikord (5–29%) | Esineb 1 haiguses |
| EMX2empty spiracles homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| FEZF1FEZ family zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF17fibroblast growth factor 17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF8fibroblast growth factor 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FHL1four and a half LIM domains 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GINS1GINS complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HESX1HESX homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL17RDinterleukin 17 receptor D | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNAlamin A/C | Mõnikord (5–29%) | Esineb 2 haiguses |
| MPDU1mannose-P-dolichol utilization defect 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPLKIPM-phase specific PLK1 interacting protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDNFneuron derived neurotrophic factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEK9NIMA related kinase 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NLRP3NLR family pyrin domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOD2nucleotide binding oligomerization domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Mõnikord (5–29%) | Esineb 1 haiguses |
| PROK2prokineticin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PROKR2prokineticin receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RIN2Ras and Rab interactor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF113Aring finger protein 113A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA3Asemaphorin 3A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC29A3solute carrier family 29 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLURP1secreted LY6/PLAUR domain containing 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SOX10SRY-box transcription factor 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPRY4sprouty RTK signaling antagonist 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TACR3tachykinin receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM43transmembrane protein 43 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR11WD repeat domain 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Harva (1–4%) | Esineb 1 haiguses |
| EFL1elongation factor like GTPase 1 | Harva (1–4%) | Esineb 1 haiguses |
| SBDSSBDS ribosome maturation factor | Harva (1–4%) | Esineb 1 haiguses |
| ARSLarylsulfatase L | Pole registreeritud | Esineb 1 haiguses |
| CHKBcholine kinase beta | Pole registreeritud | Esineb 1 haiguses |
| COL4A3collagen type IV alpha 3 chain | Pole registreeritud | Esineb 1 haiguses |
| COL4A4collagen type IV alpha 4 chain | Pole registreeritud | Esineb 1 haiguses |
| COL4A5collagen type IV alpha 5 chain | Pole registreeritud | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| IL2RBinterleukin 2 receptor subunit beta | Pole registreeritud | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Pole registreeritud | Esineb 2 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