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Požymis

Paleness

Klinikinis pavadinimas: Pallor

Abnormally pale skin.

HPO HP:0000980

Santrauka

Taip pat vadinama
Skin paleness
Kūno sistema
Abnormality of the integument

Atskaitos genomasGRCh38

Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.

145 genų susiję su Paleness

Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Paleness. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.

GenasKaip dažnai pasireiškiaLigos
ABCB7ATP binding cassette subfamily B member 7Visada1 ligoje
CALRcalreticulinVisada2 ligose
CDH3cadherin 3Visada1 ligoje
JAK2Janus kinase 2Visada2 ligose
MPLMPL proto-oncogene, thrombopoietin receptorVisada2 ligose
PIGAphosphatidylinositol glycan anchor biosynthesis class AVisada1 ligoje
PKLRpyruvate kinase L/RVisada1 ligoje
SH2B3SH2B adaptor protein 3Visada1 ligoje
ALAS25'-aminolevulinate synthase 2Labai dažnai (80–99%)1 ligoje
CLCN7Cl-/H+ antiporter 7Labai dažnai (80–99%)1 ligoje
HBA1hemoglobin subunit alpha 1Labai dažnai (80–99%)1 ligoje
HBA2hemoglobin subunit alpha 2Labai dažnai (80–99%)1 ligoje
HBBhemoglobin subunit betaLabai dažnai (80–99%)5 ligose
HBG1hemoglobin subunit gamma 1Labai dažnai (80–99%)1 ligoje
HBG2hemoglobin subunit gamma 2Labai dažnai (80–99%)1 ligoje
HNF4Ahepatocyte nuclear factor 4 alphaLabai dažnai (80–99%)1 ligoje
KLF1KLF transcription factor 1Labai dažnai (80–99%)1 ligoje
MMADHCmetabolism of cobalamin associated DLabai dažnai (80–99%)1 ligoje
OSTM1osteoclastogenesis associated transmembrane protein 1Labai dažnai (80–99%)1 ligoje
SLC19A2solute carrier family 19 member 2Labai dažnai (80–99%)1 ligoje
SLC46A1solute carrier family 46 member 1Labai dažnai (80–99%)1 ligoje
SNX10sorting nexin 10Labai dažnai (80–99%)1 ligoje
TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3Labai dažnai (80–99%)1 ligoje
TNFSF11TNF superfamily member 11Labai dažnai (80–99%)1 ligoje
ABCC8ATP binding cassette subfamily C member 8Dažnai (30–79%)1 ligoje
ADA2adenosine deaminase 2Dažnai (30–79%)1 ligoje
AIPAHR interacting HSP90 co-chaperoneDažnai (30–79%)1 ligoje
AMNamnion associated transmembrane proteinDažnai (30–79%)1 ligoje
ANK1ankyrin 1Dažnai (30–79%)1 ligoje
ASXL1ASXL transcriptional regulator 1Dažnai (30–79%)1 ligoje
ATP1A2ATPase Na+/K+ transporting subunit alpha 2Dažnai (30–79%)1 ligoje
ATP1A3ATPase Na+/K+ transporting subunit alpha 3Dažnai (30–79%)1 ligoje
CACNA1Acalcium voltage-gated channel subunit alpha1 ADažnai (30–79%)2 ligose
CACNA1Hcalcium voltage-gated channel subunit alpha1 HDažnai (30–79%)1 ligoje
CCND1cyclin D1Dažnai (30–79%)2 ligose
CDH23cadherin related 23Dažnai (30–79%)2 ligose
CUBNcubilinDažnai (30–79%)1 ligoje
EPB42erythrocyte membrane protein band 4.2Dažnai (30–79%)1 ligoje
GABRA1gamma-aminobutyric acid type A receptor subunit alpha1Dažnai (30–79%)2 ligose
GABRB3gamma-aminobutyric acid type A receptor subunit beta3Dažnai (30–79%)1 ligoje
Rodyti dar 105 genų
GenasKaip dažnai pasireiškiaLigos
GABRG2gamma-aminobutyric acid type A receptor subunit gamma2Dažnai (30–79%)2 ligose
GATA1GATA binding protein 1Dažnai (30–79%)1 ligoje
GATA2GATA binding protein 2Dažnai (30–79%)1 ligoje
HEATR3HEAT repeat containing 3Dažnai (30–79%)1 ligoje
HNF1AHNF1 homeobox ADažnai (30–79%)1 ligoje
JRKJrk helix-turn-helix proteinDažnai (30–79%)1 ligoje
KCNJ11potassium inwardly rectifying channel subfamily J member 11Dažnai (30–79%)1 ligoje
KCNQ2potassium voltage-gated channel subfamily Q member 2Dažnai (30–79%)1 ligoje
KITKIT proto-oncogene, receptor tyrosine kinaseDažnai (30–79%)1 ligoje
MEN1menin 1Dažnai (30–79%)1 ligoje
MMACHCmetabolism of cobalamin associated CDažnai (30–79%)1 ligoje
MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2Dažnai (30–79%)1 ligoje
MYD88MYD88 innate immune signal transduction adaptorDažnai (30–79%)1 ligoje
PRDX1peroxiredoxin 1Dažnai (30–79%)1 ligoje
RHOBTB2Rho related BTB domain containing 2Dažnai (30–79%)1 ligoje
RPL11ribosomal protein L11Dažnai (30–79%)1 ligoje
RPL15ribosomal protein L15Dažnai (30–79%)1 ligoje
RPL18ribosomal protein L18Dažnai (30–79%)1 ligoje
RPL26ribosomal protein L26Dažnai (30–79%)1 ligoje
RPL27ribosomal protein L27Dažnai (30–79%)1 ligoje
RPL31ribosomal protein L31Dažnai (30–79%)1 ligoje
RPL35ribosomal protein L35Dažnai (30–79%)1 ligoje
RPL35Aribosomal protein L35aDažnai (30–79%)1 ligoje
RPL5ribosomal protein L5Dažnai (30–79%)1 ligoje
RPL8ribosomal protein L8Dažnai (30–79%)1 ligoje
RPL9ribosomal protein L9Dažnai (30–79%)1 ligoje
RPS10ribosomal protein S10Dažnai (30–79%)1 ligoje
RPS15Aribosomal protein S15aDažnai (30–79%)1 ligoje
RPS17ribosomal protein S17Dažnai (30–79%)1 ligoje
RPS19ribosomal protein S19Dažnai (30–79%)2 ligose
RPS20ribosomal protein S20Dažnai (30–79%)1 ligoje
RPS24ribosomal protein S24Dažnai (30–79%)1 ligoje
RPS26ribosomal protein S26Dažnai (30–79%)1 ligoje
RPS27ribosomal protein S27Dažnai (30–79%)1 ligoje
RPS28ribosomal protein S28Dažnai (30–79%)1 ligoje
RPS29ribosomal protein S29Dažnai (30–79%)1 ligoje
RPS7ribosomal protein S7Dažnai (30–79%)1 ligoje
SCN2Asodium voltage-gated channel alpha subunit 2Dažnai (30–79%)2 ligose
SF3B1splicing factor 3b subunit 1Dažnai (30–79%)1 ligoje
SLC1A3solute carrier family 1 member 3Dažnai (30–79%)1 ligoje
SLC2A1solute carrier family 2 member 1Dažnai (30–79%)1 ligoje
SLC4A1solute carrier family 4 member 1 (Diego blood group)Dažnai (30–79%)2 ligose
SPTA1spectrin alpha, erythrocytic 1Dažnai (30–79%)1 ligoje
SPTBspectrin beta, erythrocyticDažnai (30–79%)1 ligoje
SRSF2serine and arginine rich splicing factor 2Dažnai (30–79%)1 ligoje
STEAP3STEAP3 metalloreductaseDažnai (30–79%)2 ligose
TET2tet methylcytosine dioxygenase 2Dažnai (30–79%)3 ligose
TSR2TSR2 ribosome maturation factorDažnai (30–79%)1 ligoje
UCP2uncoupling protein 2Dažnai (30–79%)1 ligoje
YARS2tyrosyl-tRNA synthetase 2Dažnai (30–79%)1 ligoje
ACAT1acetyl-CoA acetyltransferase 1Kartais (5–29%)1 ligoje
COL12A1collagen type XII alpha 1 chainKartais (5–29%)1 ligoje
DEPDC5DEP domain containing 5, GATOR1 subcomplex subunitKartais (5–29%)1 ligoje
DLSTdihydrolipoamide S-succinyltransferaseKartais (5–29%)1 ligoje
DNMT3ADNA methyltransferase 3 alphaKartais (5–29%)1 ligoje
EPAS1endothelial PAS domain protein 1Kartais (5–29%)1 ligoje
FBP1fructose-bisphosphatase 1Kartais (5–29%)1 ligoje
FHfumarate hydrataseKartais (5–29%)2 ligose
HMGCL3-hydroxy-3-methylglutaryl-CoA lyaseKartais (5–29%)2 ligose
KIF1Bkinesin family member 1BKartais (5–29%)1 ligoje
KIF23kinesin family member 23Kartais (5–29%)1 ligoje
MAXMYC associated transcriptional regulator XKartais (5–29%)1 ligoje
MDH2malate dehydrogenase 2Kartais (5–29%)1 ligoje
MT-CYBmitochondrially encoded cytochrome bKartais (5–29%)1 ligoje
NF1neurofibromin 1Kartais (5–29%)1 ligoje
NPRL2NPR2 like, GATOR1 complex subunitKartais (5–29%)1 ligoje
NPRL3NPR3 like, GATOR1 complex subunitKartais (5–29%)1 ligoje
PCDH19protocadherin 19Kartais (5–29%)1 ligoje
PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group)Kartais (5–29%)1 ligoje
PTS6-pyruvoyltetrahydropterin synthaseKartais (5–29%)1 ligoje
RACGAP1Rac GTPase activating protein 1Kartais (5–29%)1 ligoje
RAG1recombination activating 1Kartais (5–29%)1 ligoje
RAG2recombination activating 2Kartais (5–29%)1 ligoje
RETret proto-oncogeneKartais (5–29%)2 ligose
SCN1Asodium voltage-gated channel alpha subunit 1Kartais (5–29%)1 ligoje
SCN1Bsodium voltage-gated channel beta subunit 1Kartais (5–29%)1 ligoje
SCN3Asodium voltage-gated channel alpha subunit 3Kartais (5–29%)1 ligoje
SCN9Asodium voltage-gated channel alpha subunit 9Kartais (5–29%)1 ligoje
SDHAsuccinate dehydrogenase complex flavoprotein subunit AKartais (5–29%)1 ligoje
SDHAF2succinate dehydrogenase complex assembly factor 2Kartais (5–29%)1 ligoje
SDHBsuccinate dehydrogenase complex iron sulfur subunit BKartais (5–29%)2 ligose
SDHCsuccinate dehydrogenase complex subunit CKartais (5–29%)1 ligoje
SDHDsuccinate dehydrogenase complex subunit DKartais (5–29%)2 ligose
SLC25A11solute carrier family 25 member 11Kartais (5–29%)1 ligoje
TMEM127transmembrane protein 127Kartais (5–29%)1 ligoje
VHLvon Hippel-Lindau tumor suppressorKartais (5–29%)3 ligose
ZNF699zinc finger protein 699Kartais (5–29%)1 ligoje
AGBL5AGBL carboxypeptidase 5Neužfiksuota1 ligoje
ALS2alsin Rho guanine nucleotide exchange factor ALS2Neužfiksuota1 ligoje
CASKcalcium/calmodulin dependent serine protein kinaseNeužfiksuota1 ligoje
CDIN1CDAN1 interacting nuclease 1Neužfiksuota1 ligoje
DHFRdihydrofolate reductaseNeužfiksuota1 ligoje
EPB41erythrocyte membrane protein band 4.1Neužfiksuota1 ligoje
G6PDglucose-6-phosphate dehydrogenaseNeužfiksuota1 ligoje
HEXAhexosaminidase subunit alphaNeužfiksuota1 ligoje
IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gammaNeužfiksuota1 ligoje
LRATlecithin retinol acyltransferaseNeužfiksuota1 ligoje
MSTO1misato mitochondrial distribution and morphology regulator 1Neužfiksuota1 ligoje
OPA1OPA1 mitochondrial dynamin like GTPaseNeužfiksuota1 ligoje
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)Neužfiksuota1 ligoje
PUS1pseudouridine synthase 1Neužfiksuota1 ligoje
RAX2retina and anterior neural fold homeobox 2Neužfiksuota1 ligoje
TMEM126Atransmembrane protein 126ANeužfiksuota1 ligoje
TTC8tetratricopeptide repeat domain 8Neužfiksuota1 ligoje
WDR19WD repeat domain 19Neužfiksuota1 ligoje

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.

Siauresni požymiai

Platesni požymiai

Abnormal skin structure

Iš kur tai žinoma

  • 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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