Træk
Paleness
Klinisk navn: Pallor
Abnormally pale skin.
Resumé
- Også kaldet
- Skin paleness
- Kropssystem
- Abnormality of the integument
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test145 gener knyttet til Paleness
Ændringer i disse gener forårsager sjældne tilstande, hvor Paleness ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altid | I 1 tilstand |
| CALRcalreticulin | Altid | I 2 tilstande |
| CDH3cadherin 3 | Altid | I 1 tilstand |
| JAK2Janus kinase 2 | Altid | I 2 tilstande |
| MPLMPL proto-oncogene, thrombopoietin receptor | Altid | I 2 tilstande |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 1 tilstand |
| PKLRpyruvate kinase L/R | Altid | I 1 tilstand |
| SH2B3SH2B adaptor protein 3 | Altid | I 1 tilstand |
| ALAS25'-aminolevulinate synthase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Meget ofte (80–99 %) | I 1 tilstand |
| HBA1hemoglobin subunit alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HBBhemoglobin subunit beta | Meget ofte (80–99 %) | I 5 tilstande |
| HBG1hemoglobin subunit gamma 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HBG2hemoglobin subunit gamma 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HNF4Ahepatocyte nuclear factor 4 alpha | Meget ofte (80–99 %) | I 1 tilstand |
| KLF1KLF transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MMADHCmetabolism of cobalamin associated D | Meget ofte (80–99 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC19A2solute carrier family 19 member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC46A1solute carrier family 46 member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SNX10sorting nexin 10 | Meget ofte (80–99 %) | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Meget ofte (80–99 %) | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Ofte (30–79 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Ofte (30–79 %) | I 1 tilstand |
| AMNamnion associated transmembrane protein | Ofte (30–79 %) | I 1 tilstand |
| ANK1ankyrin 1 | Ofte (30–79 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Ofte (30–79 %) | I 1 tilstand |
| CCND1cyclin D1 | Ofte (30–79 %) | I 2 tilstande |
| CDH23cadherin related 23 | Ofte (30–79 %) | I 2 tilstande |
| CUBNcubilin | Ofte (30–79 %) | I 1 tilstand |
| EPB42erythrocyte membrane protein band 4.2 | Ofte (30–79 %) | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Ofte (30–79 %) | I 2 tilstande |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Ofte (30–79 %) | I 1 tilstand |
Vis 105 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ofte (30–79 %) | I 2 tilstande |
| GATA1GATA binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| GATA2GATA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Ofte (30–79 %) | I 1 tilstand |
| HNF1AHNF1 homeobox A | Ofte (30–79 %) | I 1 tilstand |
| JRKJrk helix-turn-helix protein | Ofte (30–79 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Ofte (30–79 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Ofte (30–79 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| MEN1menin 1 | Ofte (30–79 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Ofte (30–79 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofte (30–79 %) | I 1 tilstand |
| MYD88MYD88 innate immune signal transduction adaptor | Ofte (30–79 %) | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| RPL11ribosomal protein L11 | Ofte (30–79 %) | I 1 tilstand |
| RPL15ribosomal protein L15 | Ofte (30–79 %) | I 1 tilstand |
| RPL18ribosomal protein L18 | Ofte (30–79 %) | I 1 tilstand |
| RPL26ribosomal protein L26 | Ofte (30–79 %) | I 1 tilstand |
| RPL27ribosomal protein L27 | Ofte (30–79 %) | I 1 tilstand |
| RPL31ribosomal protein L31 | Ofte (30–79 %) | I 1 tilstand |
| RPL35ribosomal protein L35 | Ofte (30–79 %) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Ofte (30–79 %) | I 1 tilstand |
| RPL5ribosomal protein L5 | Ofte (30–79 %) | I 1 tilstand |
| RPL8ribosomal protein L8 | Ofte (30–79 %) | I 1 tilstand |
| RPL9ribosomal protein L9 | Ofte (30–79 %) | I 1 tilstand |
| RPS10ribosomal protein S10 | Ofte (30–79 %) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Ofte (30–79 %) | I 1 tilstand |
| RPS17ribosomal protein S17 | Ofte (30–79 %) | I 1 tilstand |
| RPS19ribosomal protein S19 | Ofte (30–79 %) | I 2 tilstande |
| RPS20ribosomal protein S20 | Ofte (30–79 %) | I 1 tilstand |
| RPS24ribosomal protein S24 | Ofte (30–79 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Ofte (30–79 %) | I 1 tilstand |
| RPS27ribosomal protein S27 | Ofte (30–79 %) | I 1 tilstand |
| RPS28ribosomal protein S28 | Ofte (30–79 %) | I 1 tilstand |
| RPS29ribosomal protein S29 | Ofte (30–79 %) | I 1 tilstand |
| RPS7ribosomal protein S7 | Ofte (30–79 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| SF3B1splicing factor 3b subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Ofte (30–79 %) | I 2 tilstande |
| SPTA1spectrin alpha, erythrocytic 1 | Ofte (30–79 %) | I 1 tilstand |
| SPTBspectrin beta, erythrocytic | Ofte (30–79 %) | I 1 tilstand |
| SRSF2serine and arginine rich splicing factor 2 | Ofte (30–79 %) | I 1 tilstand |
| STEAP3STEAP3 metalloreductase | Ofte (30–79 %) | I 2 tilstande |
| TET2tet methylcytosine dioxygenase 2 | Ofte (30–79 %) | I 3 tilstande |
| TSR2TSR2 ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| UCP2uncoupling protein 2 | Ofte (30–79 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Ofte (30–79 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DLSTdihydrolipoamide S-succinyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| EPAS1endothelial PAS domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBP1fructose-bisphosphatase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Nogle gange (5–29 %) | I 2 tilstande |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Nogle gange (5–29 %) | I 2 tilstande |
| KIF1Bkinesin family member 1B | Nogle gange (5–29 %) | I 1 tilstand |
| KIF23kinesin family member 23 | Nogle gange (5–29 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Nogle gange (5–29 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NPRL2NPR2 like, GATOR1 complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NPRL3NPR3 like, GATOR1 complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PCDH19protocadherin 19 | Nogle gange (5–29 %) | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Nogle gange (5–29 %) | I 1 tilstand |
| RACGAP1Rac GTPase activating protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAG1recombination activating 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAG2recombination activating 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RETret proto-oncogene | Nogle gange (5–29 %) | I 2 tilstande |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Nogle gange (5–29 %) | I 2 tilstande |
| SDHCsuccinate dehydrogenase complex subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Nogle gange (5–29 %) | I 2 tilstande |
| SLC25A11solute carrier family 25 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM127transmembrane protein 127 | Nogle gange (5–29 %) | I 1 tilstand |
| VHLvon Hippel-Lindau tumor suppressor | Nogle gange (5–29 %) | I 3 tilstande |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Ikke registreret | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ikke registreret | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ikke registreret | I 1 tilstand |
| CDIN1CDAN1 interacting nuclease 1 | Ikke registreret | I 1 tilstand |
| DHFRdihydrofolate reductase | Ikke registreret | I 1 tilstand |
| EPB41erythrocyte membrane protein band 4.1 | Ikke registreret | I 1 tilstand |
| G6PDglucose-6-phosphate dehydrogenase | Ikke registreret | I 1 tilstand |
| HEXAhexosaminidase subunit alpha | Ikke registreret | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Ikke registreret | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Ikke registreret | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ikke registreret | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ikke registreret | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ikke registreret | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Ikke registreret | I 1 tilstand |
| RAX2retina and anterior neural fold homeobox 2 | Ikke registreret | I 1 tilstand |
| TMEM126Atransmembrane protein 126A | Ikke registreret | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ikke registreret | I 1 tilstand |
| WDR19WD repeat domain 19 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger