Trait
Paleness
Clinical name: Pallor
Abnormally pale skin.
Summary
- Also called
- Skin paleness
- 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 Test145 genes linked to Paleness
Changes in these genes cause rare conditions in which Paleness 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Always | In 1 condition |
| CALRcalreticulin | Always | In 2 conditions |
| CDH3cadherin 3 | Always | In 1 condition |
| JAK2Janus kinase 2 | Always | In 2 conditions |
| MPLMPL proto-oncogene, thrombopoietin receptor | Always | In 2 conditions |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| PKLRpyruvate kinase L/R | Always | In 1 condition |
| SH2B3SH2B adaptor protein 3 | Always | In 1 condition |
| ALAS25'-aminolevulinate synthase 2 | Very often (80–99%) | In 1 condition |
| CLCN7Cl-/H+ antiporter 7 | Very often (80–99%) | In 1 condition |
| HBA1hemoglobin subunit alpha 1 | Very often (80–99%) | In 1 condition |
| HBA2hemoglobin subunit alpha 2 | Very often (80–99%) | In 1 condition |
| HBBhemoglobin subunit beta | Very often (80–99%) | In 5 conditions |
| HBG1hemoglobin subunit gamma 1 | Very often (80–99%) | In 1 condition |
| HBG2hemoglobin subunit gamma 2 | Very often (80–99%) | In 1 condition |
| HNF4Ahepatocyte nuclear factor 4 alpha | Very often (80–99%) | In 1 condition |
| KLF1KLF transcription factor 1 | Very often (80–99%) | In 1 condition |
| MMADHCmetabolism of cobalamin associated D | Very often (80–99%) | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Very often (80–99%) | In 1 condition |
| SLC19A2solute carrier family 19 member 2 | Very often (80–99%) | In 1 condition |
| SLC46A1solute carrier family 46 member 1 | Very often (80–99%) | In 1 condition |
| SNX10sorting nexin 10 | Very often (80–99%) | In 1 condition |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Very often (80–99%) | In 1 condition |
| TNFSF11TNF superfamily member 11 | Very often (80–99%) | In 1 condition |
| ABCC8ATP binding cassette subfamily C member 8 | Often (30–79%) | In 1 condition |
| ADA2adenosine deaminase 2 | Often (30–79%) | In 1 condition |
| AIPAHR interacting HSP90 co-chaperone | Often (30–79%) | In 1 condition |
| AMNamnion associated transmembrane protein | Often (30–79%) | In 1 condition |
| ANK1ankyrin 1 | Often (30–79%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Often (30–79%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Often (30–79%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Often (30–79%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Often (30–79%) | In 2 conditions |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Often (30–79%) | In 1 condition |
| CCND1cyclin D1 | Often (30–79%) | In 2 conditions |
| CDH23cadherin related 23 | Often (30–79%) | In 2 conditions |
| CUBNcubilin | Often (30–79%) | In 1 condition |
| EPB42erythrocyte membrane protein band 4.2 | Often (30–79%) | In 1 condition |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Often (30–79%) | In 2 conditions |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Often (30–79%) | In 1 condition |
Show 105 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Often (30–79%) | In 2 conditions |
| GATA1GATA binding protein 1 | Often (30–79%) | In 1 condition |
| GATA2GATA binding protein 2 | Often (30–79%) | In 1 condition |
| HEATR3HEAT repeat containing 3 | Often (30–79%) | In 1 condition |
| HNF1AHNF1 homeobox A | Often (30–79%) | In 1 condition |
| JRKJrk helix-turn-helix protein | Often (30–79%) | In 1 condition |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Often (30–79%) | In 1 condition |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Often (30–79%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| MEN1menin 1 | Often (30–79%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Often (30–79%) | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Often (30–79%) | In 1 condition |
| MYD88MYD88 innate immune signal transduction adaptor | Often (30–79%) | In 1 condition |
| PRDX1peroxiredoxin 1 | Often (30–79%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Often (30–79%) | In 1 condition |
| RPL11ribosomal protein L11 | Often (30–79%) | In 1 condition |
| RPL15ribosomal protein L15 | Often (30–79%) | In 1 condition |
| RPL18ribosomal protein L18 | Often (30–79%) | In 1 condition |
| RPL26ribosomal protein L26 | Often (30–79%) | In 1 condition |
| RPL27ribosomal protein L27 | Often (30–79%) | In 1 condition |
| RPL31ribosomal protein L31 | Often (30–79%) | In 1 condition |
| RPL35ribosomal protein L35 | Often (30–79%) | In 1 condition |
| RPL35Aribosomal protein L35a | Often (30–79%) | In 1 condition |
| RPL5ribosomal protein L5 | Often (30–79%) | In 1 condition |
| RPL8ribosomal protein L8 | Often (30–79%) | In 1 condition |
| RPL9ribosomal protein L9 | Often (30–79%) | In 1 condition |
| RPS10ribosomal protein S10 | Often (30–79%) | In 1 condition |
| RPS15Aribosomal protein S15a | Often (30–79%) | In 1 condition |
| RPS17ribosomal protein S17 | Often (30–79%) | In 1 condition |
| RPS19ribosomal protein S19 | Often (30–79%) | In 2 conditions |
| RPS20ribosomal protein S20 | Often (30–79%) | In 1 condition |
| RPS24ribosomal protein S24 | Often (30–79%) | In 1 condition |
| RPS26ribosomal protein S26 | Often (30–79%) | In 1 condition |
| RPS27ribosomal protein S27 | Often (30–79%) | In 1 condition |
| RPS28ribosomal protein S28 | Often (30–79%) | In 1 condition |
| RPS29ribosomal protein S29 | Often (30–79%) | In 1 condition |
| RPS7ribosomal protein S7 | Often (30–79%) | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Often (30–79%) | In 2 conditions |
| SF3B1splicing factor 3b subunit 1 | Often (30–79%) | In 1 condition |
| SLC1A3solute carrier family 1 member 3 | Often (30–79%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Often (30–79%) | In 1 condition |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Often (30–79%) | In 2 conditions |
| SPTA1spectrin alpha, erythrocytic 1 | Often (30–79%) | In 1 condition |
| SPTBspectrin beta, erythrocytic | Often (30–79%) | In 1 condition |
| SRSF2serine and arginine rich splicing factor 2 | Often (30–79%) | In 1 condition |
| STEAP3STEAP3 metalloreductase | Often (30–79%) | In 2 conditions |
| TET2tet methylcytosine dioxygenase 2 | Often (30–79%) | In 3 conditions |
| TSR2TSR2 ribosome maturation factor | Often (30–79%) | In 1 condition |
| UCP2uncoupling protein 2 | Often (30–79%) | In 1 condition |
| YARS2tyrosyl-tRNA synthetase 2 | Often (30–79%) | In 1 condition |
| ACAT1acetyl-CoA acetyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sometimes (5–29%) | In 1 condition |
| DLSTdihydrolipoamide S-succinyltransferase | Sometimes (5–29%) | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Sometimes (5–29%) | In 1 condition |
| EPAS1endothelial PAS domain protein 1 | Sometimes (5–29%) | In 1 condition |
| FBP1fructose-bisphosphatase 1 | Sometimes (5–29%) | In 1 condition |
| FHfumarate hydratase | Sometimes (5–29%) | In 2 conditions |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sometimes (5–29%) | In 2 conditions |
| KIF1Bkinesin family member 1B | Sometimes (5–29%) | In 1 condition |
| KIF23kinesin family member 23 | Sometimes (5–29%) | In 1 condition |
| MAXMYC associated transcriptional regulator X | Sometimes (5–29%) | In 1 condition |
| MDH2malate dehydrogenase 2 | Sometimes (5–29%) | In 1 condition |
| MT-CYBmitochondrially encoded cytochrome b | Sometimes (5–29%) | In 1 condition |
| NF1neurofibromin 1 | Sometimes (5–29%) | In 1 condition |
| NPRL2NPR2 like, GATOR1 complex subunit | Sometimes (5–29%) | In 1 condition |
| NPRL3NPR3 like, GATOR1 complex subunit | Sometimes (5–29%) | In 1 condition |
| PCDH19protocadherin 19 | Sometimes (5–29%) | In 1 condition |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Sometimes (5–29%) | In 1 condition |
| PTS6-pyruvoyltetrahydropterin synthase | Sometimes (5–29%) | In 1 condition |
| RACGAP1Rac GTPase activating protein 1 | Sometimes (5–29%) | In 1 condition |
| RAG1recombination activating 1 | Sometimes (5–29%) | In 1 condition |
| RAG2recombination activating 2 | Sometimes (5–29%) | In 1 condition |
| RETret proto-oncogene | Sometimes (5–29%) | In 2 conditions |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sometimes (5–29%) | In 1 condition |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sometimes (5–29%) | In 1 condition |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sometimes (5–29%) | In 1 condition |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Sometimes (5–29%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sometimes (5–29%) | In 1 condition |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Sometimes (5–29%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sometimes (5–29%) | In 2 conditions |
| SDHCsuccinate dehydrogenase complex subunit C | Sometimes (5–29%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Sometimes (5–29%) | In 2 conditions |
| SLC25A11solute carrier family 25 member 11 | Sometimes (5–29%) | In 1 condition |
| TMEM127transmembrane protein 127 | Sometimes (5–29%) | In 1 condition |
| VHLvon Hippel-Lindau tumor suppressor | Sometimes (5–29%) | In 3 conditions |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| AGBL5AGBL carboxypeptidase 5 | Not recorded | In 1 condition |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Not recorded | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Not recorded | In 1 condition |
| CDIN1CDAN1 interacting nuclease 1 | Not recorded | In 1 condition |
| DHFRdihydrofolate reductase | Not recorded | In 1 condition |
| EPB41erythrocyte membrane protein band 4.1 | Not recorded | In 1 condition |
| G6PDglucose-6-phosphate dehydrogenase | Not recorded | In 1 condition |
| HEXAhexosaminidase subunit alpha | Not recorded | In 1 condition |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Not recorded | In 1 condition |
| LRATlecithin retinol acyltransferase | Not recorded | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Not recorded | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Not recorded | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Not recorded | In 1 condition |
| PUS1pseudouridine synthase 1 | Not recorded | In 1 condition |
| RAX2retina and anterior neural fold homeobox 2 | Not recorded | In 1 condition |
| TMEM126Atransmembrane protein 126A | Not recorded | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Not recorded | In 1 condition |
| WDR19WD repeat domain 19 | Not recorded | In 1 condition |
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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