Trait
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.
Summary
- Also called
- Ichthyosiform abnormality of the skin, Ichthyotic skin
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test142 genes linked to Ichthyosis
Changes in these genes cause rare conditions in which Ichthyosis is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Always | In 1 condition |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Always | In 4 conditions |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Always | In 2 conditions |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Always | In 2 conditions |
| CLDN1claudin 1 | Always | In 2 conditions |
| DSG1desmoglein 1 | Always | In 1 condition |
| ELOVL1ELOVL fatty acid elongase 1 | Always | In 1 condition |
| ELOVL4ELOVL fatty acid elongase 4 | Always | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Always | In 2 conditions |
| FITM2fat storage inducing transmembrane protein 2 | Always | In 1 condition |
| GJB2gap junction protein beta 2 | Always | In 3 conditions |
| GTF2E2general transcription factor IIE subunit 2 | Always | In 2 conditions |
| KRT1keratin 1 | Always | In 3 conditions |
| KRT10keratin 10 | Always | In 3 conditions |
| LIPNlipase family member N | Always | In 2 conditions |
| MARS1methionyl-tRNA synthetase 1 | Always | In 1 condition |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Always | In 1 condition |
| MSMO1methylsterol monooxygenase 1 | Always | In 1 condition |
| OSBPL2oxysterol binding protein like 2 | Always | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Always | In 2 conditions |
| PSAT1phosphoserine aminotransferase 1 | Always | In 2 conditions |
| RNU6ATACRNA, U6atac small nuclear | Always | In 1 condition |
| SNAP29synaptosome associated protein 29 | Always | In 2 conditions |
| SPINK5serine peptidase inhibitor Kazal type 5 | Always | In 1 condition |
| STSsteroid sulfatase | Always | In 3 conditions |
| TGM1transglutaminase 1 | Always | In 5 conditions |
| VPS33BVPS33B late endosome and lysosome associated | Always | In 3 conditions |
| ABCA12ATP binding cassette subfamily A member 12 | Very often (80–99%) | In 3 conditions |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Very often (80–99%) | In 3 conditions |
| ASPRV1aspartic peptidase retroviral like 1 | Very often (80–99%) | In 1 condition |
| CERS3ceramide synthase 3 | Very often (80–99%) | In 1 condition |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Very often (80–99%) | In 1 condition |
| FLGfilaggrin | Very often (80–99%) | In 2 conditions |
| GBA1glucosylceramidase beta 1 | Very often (80–99%) | In 3 conditions |
| KRT2keratin 2 | Very often (80–99%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Very often (80–99%) | In 2 conditions |
| NIPAL4NIPA like domain containing 4 | Very often (80–99%) | In 2 conditions |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Very often (80–99%) | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Very often (80–99%) | In 4 conditions |
| PHYHphytanoyl-CoA 2-hydroxylase | Very often (80–99%) | In 2 conditions |
Show 102 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PNPLA1patatin like domain 1, omega-hydroxyceramide transacylase | Very often (80–99%) | In 1 condition |
| POMPproteasome maturation protein | Very often (80–99%) | In 2 conditions |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Very often (80–99%) | In 3 conditions |
| SGPL1sphingosine-1-phosphate lyase 1 | Very often (80–99%) | In 1 condition |
| SLC27A4solute carrier family 27 member 4 | Very often (80–99%) | In 1 condition |
| ST14ST14 transmembrane serine protease matriptase | Very often (80–99%) | In 1 condition |
| STIM1stromal interaction molecule 1 | Very often (80–99%) | In 2 conditions |
| SULT2B1sulfotransferase family 2B member 1 | Very often (80–99%) | In 2 conditions |
| SUMF1sulfatase modifying factor 1 | Very often (80–99%) | In 2 conditions |
| AHSGalpha 2-HS glycoprotein | Often (30–79%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 2 conditions |
| CSTAcystatin A | Often (30–79%) | In 2 conditions |
| DOLKdolichol kinase | Often (30–79%) | In 2 conditions |
| EBPEBP cholestenol delta-isomerase | Often (30–79%) | In 3 conditions |
| GTF2H5general transcription factor IIH subunit 5 | Often (30–79%) | In 2 conditions |
| ITGB6integrin subunit beta 6 | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 3 conditions |
| LSSlanosterol synthase | Often (30–79%) | In 2 conditions |
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 2 conditions |
| MAP2K2mitogen-activated protein kinase kinase 2 | Often (30–79%) | In 2 conditions |
| PHGDHphosphoglycerate dehydrogenase | Often (30–79%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Often (30–79%) | In 2 conditions |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 1 condition |
| SRD5A3steroid 5 alpha-reductase 3 | Often (30–79%) | In 2 conditions |
| TARS1threonyl-tRNA synthetase 1 | Often (30–79%) | In 2 conditions |
| TGM5transglutaminase 5 | Often (30–79%) | In 1 condition |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Often (30–79%) | In 2 conditions |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| ANOS1anosmin 1 | Sometimes (5–29%) | In 1 condition |
| CARD14caspase recruitment domain family member 14 | Sometimes (5–29%) | In 1 condition |
| CARMIL2capping protein regulator and myosin 1 linker 2 | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CCDC141coiled-coil domain containing 141 | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 1 condition |
| CWC27CWC27 spliceosome associated cyclophilin | Sometimes (5–29%) | In 2 conditions |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| DCCDCC netrin 1 receptor | Sometimes (5–29%) | In 1 condition |
| DHRSXdehydrogenase/reductase X-linked | Sometimes (5–29%) | In 1 condition |
| DSPdesmoplakin | Sometimes (5–29%) | In 1 condition |
| DUSP6dual specificity phosphatase 6 | Sometimes (5–29%) | In 1 condition |
| EMDemerin | Sometimes (5–29%) | In 1 condition |
| EMX2empty spiracles homeobox 2 | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| FEZF1FEZ family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| FGF17fibroblast growth factor 17 | Sometimes (5–29%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Sometimes (5–29%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 1 condition |
| FHL1four and a half LIM domains 1 | Sometimes (5–29%) | In 1 condition |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Sometimes (5–29%) | In 1 condition |
| GINS1GINS complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| GNB2G protein subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| HESX1HESX homeobox 1 | Sometimes (5–29%) | In 1 condition |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Sometimes (5–29%) | In 1 condition |
| IL17RDinterleukin 17 receptor D | Sometimes (5–29%) | In 1 condition |
| LMNAlamin A/C | Sometimes (5–29%) | In 2 conditions |
| MPDU1mannose-P-dolichol utilization defect 1 | Sometimes (5–29%) | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 1 condition |
| NDNFneuron derived neurotrophic factor | Sometimes (5–29%) | In 1 condition |
| NEK9NIMA related kinase 9 | Sometimes (5–29%) | In 1 condition |
| NLRP3NLR family pyrin domain containing 3 | Sometimes (5–29%) | In 1 condition |
| NOD2nucleotide binding oligomerization domain containing 2 | Sometimes (5–29%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Sometimes (5–29%) | In 2 conditions |
| PEX10peroxisomal biogenesis factor 10 | Sometimes (5–29%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Sometimes (5–29%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Sometimes (5–29%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Sometimes (5–29%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Sometimes (5–29%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Sometimes (5–29%) | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Sometimes (5–29%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Sometimes (5–29%) | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Sometimes (5–29%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Sometimes (5–29%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Sometimes (5–29%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Sometimes (5–29%) | In 2 conditions |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Sometimes (5–29%) | In 1 condition |
| PROK2prokineticin 2 | Sometimes (5–29%) | In 1 condition |
| PROKR2prokineticin receptor 2 | Sometimes (5–29%) | In 1 condition |
| RIN2Ras and Rab interactor 2 | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| SEMA3Asemaphorin 3A | Sometimes (5–29%) | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Sometimes (5–29%) | In 1 condition |
| SLC29A3solute carrier family 29 member 3 | Sometimes (5–29%) | In 1 condition |
| SLURP1secreted LY6/PLAUR domain containing 1 | Sometimes (5–29%) | In 2 conditions |
| SOX10SRY-box transcription factor 10 | Sometimes (5–29%) | In 1 condition |
| SPRY4sprouty RTK signaling antagonist 4 | Sometimes (5–29%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sometimes (5–29%) | In 1 condition |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Sometimes (5–29%) | In 1 condition |
| TACR3tachykinin receptor 3 | Sometimes (5–29%) | In 1 condition |
| TMEM43transmembrane protein 43 | Sometimes (5–29%) | In 1 condition |
| WDR11WD repeat domain 11 | Sometimes (5–29%) | In 1 condition |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Rarely (1–4%) | In 1 condition |
| EFL1elongation factor like GTPase 1 | Rarely (1–4%) | In 1 condition |
| SBDSSBDS ribosome maturation factor | Rarely (1–4%) | In 1 condition |
| ARSLarylsulfatase L | Not recorded | In 1 condition |
| CHKBcholine kinase beta | Not recorded | In 1 condition |
| COL4A3collagen type IV alpha 3 chain | Not recorded | In 1 condition |
| COL4A4collagen type IV alpha 4 chain | Not recorded | In 1 condition |
| COL4A5collagen type IV alpha 5 chain | Not recorded | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| IL2RBinterleukin 2 receptor subunit beta | Not recorded | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Not recorded | In 1 condition |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Not recorded | In 2 conditions |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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