Požymis
Poor nail formation
Klinikinis pavadinimas: Nail dystrophy
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Santrauka
- Taip pat vadinama
- Dystrophic nails, Onychodystrophy
- Kūno sistema
- Abnormality of the integument
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test130 genų susiję su Poor nail formation
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Poor nail formation. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Visada | 1 ligoje |
| COL17A1collagen type XVII alpha 1 chain | Visada | 5 ligose |
| COL7A1collagen type VII alpha 1 chain | Visada | 13 ligose |
| DKC1dyskerin pseudouridine synthase 1 | Visada | 3 ligose |
| DSG1desmoglein 1 | Visada | 1 ligoje |
| GRHL2grainyhead like transcription factor 2 | Visada | 1 ligoje |
| HOXC13homeobox C13 | Visada | 1 ligoje |
| ITGA3integrin subunit alpha 3 | Visada | 1 ligoje |
| ITGB4integrin subunit beta 4 | Visada | 6 ligose |
| KRT14keratin 14 | Visada | 7 ligose |
| KRT16keratin 16 | Visada | 2 ligose |
| KRT17keratin 17 | Visada | 2 ligose |
| KRT5keratin 5 | Visada | 7 ligose |
| KRT6Akeratin 6A | Visada | 3 ligose |
| KRT6Bkeratin 6B | Visada | 3 ligose |
| KRT85keratin 85 | Visada | 1 ligoje |
| LAMA3laminin subunit alpha 3 | Visada | 5 ligose |
| LAMB3laminin subunit beta 3 | Visada | 4 ligose |
| MARS1methionyl-tRNA synthetase 1 | Visada | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Visada | 1 ligoje |
| NHEJ1non-homologous end joining factor 1 | Visada | 1 ligoje |
| NHP2NHP2 ribonucleoprotein | Visada | 3 ligose |
| NLRP1NLR family pyrin domain containing 1 | Visada | 1 ligoje |
| NOP10NOP10 ribonucleoprotein | Visada | 2 ligose |
| PKP1plakophilin 1 | Visada | 2 ligose |
| PLECplectin | Visada | 4 ligose |
| RNU6ATACRNA, U6atac small nuclear | Visada | 1 ligoje |
| SASH1SAM and SH3 domain containing 1 | Visada | 1 ligoje |
| STING1stimulator of interferon response cGAMP interactor 1 | Visada | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Visada | 6 ligose |
| TP63tumor protein p63 | Visada | 4 ligose |
| TYMSthymidylate synthetase | Visada | 2 ligose |
| WNT10AWnt family member 10A | Visada | 1 ligoje |
| WRAP53WD repeat containing antisense to TP53 | Visada | 2 ligose |
| WRNWRN RecQ like helicase | Visada | 1 ligoje |
| ABCA12ATP binding cassette subfamily A member 12 | Labai dažnai (80–99%) | 1 ligoje |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Labai dažnai (80–99%) | 3 ligose |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Labai dažnai (80–99%) | 1 ligoje |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Labai dažnai (80–99%) | 1 ligoje |
| ASPRV1aspartic peptidase retroviral like 1 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 90 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Labai dažnai (80–99%) | 1 ligoje |
| CTC1CST telomere replication complex component 1 | Labai dažnai (80–99%) | 2 ligose |
| CTNNB1catenin beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Labai dažnai (80–99%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| EVCEvC ciliary complex subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| EVC2EvC ciliary complex subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Labai dažnai (80–99%) | 1 ligoje |
| KDF1keratinocyte differentiation factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| LIPNlipase family member N | Labai dažnai (80–99%) | 1 ligoje |
| LSSlanosterol synthase | Labai dažnai (80–99%) | 1 ligoje |
| NIPAL4NIPA like domain containing 4 | Labai dažnai (80–99%) | 1 ligoje |
| NPM1nucleophosmin 1 | Labai dažnai (80–99%) | 1 ligoje |
| PARNpoly(A)-specific ribonuclease | Labai dažnai (80–99%) | 3 ligose |
| PORCNporcupine O-acyltransferase | Labai dažnai (80–99%) | 2 ligose |
| RTEL1regulator of telomere elongation helicase 1 | Labai dažnai (80–99%) | 3 ligose |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Labai dažnai (80–99%) | 1 ligoje |
| SULT2B1sulfotransferase family 2B member 1 | Labai dažnai (80–99%) | 1 ligoje |
| TERCtelomerase RNA component | Labai dažnai (80–99%) | 3 ligose |
| TERTtelomerase reverse transcriptase | Labai dažnai (80–99%) | 4 ligose |
| TGM1transglutaminase 1 | Labai dažnai (80–99%) | 3 ligose |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Labai dažnai (80–99%) | 2 ligose |
| ABCA1ATP binding cassette subfamily A member 1 | Dažnai (30–79%) | 2 ligose |
| AIREautoimmune regulator | Dažnai (30–79%) | 2 ligose |
| BANF1barrier to autointegration nuclear assembly factor 1 | Dažnai (30–79%) | 1 ligoje |
| CD28CD28 molecule | Dažnai (30–79%) | 1 ligoje |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Dažnai (30–79%) | 1 ligoje |
| CTSCcathepsin C | Dažnai (30–79%) | 1 ligoje |
| DCLRE1BDNA cross-link repair 1B | Dažnai (30–79%) | 1 ligoje |
| DSPdesmoplakin | Dažnai (30–79%) | 2 ligose |
| FOXN1forkhead box N1 | Dažnai (30–79%) | 2 ligose |
| GJB2gap junction protein beta 2 | Dažnai (30–79%) | 2 ligose |
| GJB6gap junction protein beta 6 | Dažnai (30–79%) | 3 ligose |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Dažnai (30–79%) | 3 ligose |
| KRT1keratin 1 | Dažnai (30–79%) | 1 ligoje |
| LAMC2laminin subunit gamma 2 | Dažnai (30–79%) | 3 ligose |
| MMP1matrix metallopeptidase 1 | Dažnai (30–79%) | 1 ligoje |
| NECTIN1nectin cell adhesion molecule 1 | Dažnai (30–79%) | 1 ligoje |
| NFKB2nuclear factor kappa B subunit 2 | Dažnai (30–79%) | 1 ligoje |
| POLD3DNA polymerase delta 3, accessory subunit | Dažnai (30–79%) | 1 ligoje |
| PQBP1polyglutamine binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Dažnai (30–79%) | 1 ligoje |
| RECQL4RecQ like helicase 4 | Dažnai (30–79%) | 1 ligoje |
| TNFRSF1BTNF receptor superfamily member 1B | Dažnai (30–79%) | 1 ligoje |
| UBE2Aubiquitin conjugating enzyme E2 A | Dažnai (30–79%) | 2 ligose |
| ZMPSTE24zinc metallopeptidase STE24 | Dažnai (30–79%) | 1 ligoje |
| ANAPC1anaphase promoting complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| ATRATR checkpoint kinase | Kartais (5–29%) | 1 ligoje |
| CDSNcorneodesmosin | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CSTAcystatin A | Kartais (5–29%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Kartais (5–29%) | 1 ligoje |
| FOCADfocadhesin | Kartais (5–29%) | 1 ligoje |
| FOXP3forkhead box P3 | Kartais (5–29%) | 1 ligoje |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Kartais (5–29%) | 1 ligoje |
| IL36RNinterleukin 36 receptor antagonist | Kartais (5–29%) | 1 ligoje |
| ITGA6integrin subunit alpha 6 | Kartais (5–29%) | 2 ligose |
| KIF15kinesin family member 15 | Kartais (5–29%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Kartais (5–29%) | 1 ligoje |
| LORICRINloricrin cornified envelope precursor protein | Kartais (5–29%) | 1 ligoje |
| LRP1LDL receptor related protein 1 | Kartais (5–29%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Kartais (5–29%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Kartais (5–29%) | 3 ligose |
| MTX2metaxin 2 | Kartais (5–29%) | 1 ligoje |
| MVKmevalonate kinase | Kartais (5–29%) | 1 ligoje |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Kartais (5–29%) | 1 ligoje |
| NFKBIANFKB inhibitor alpha | Kartais (5–29%) | 1 ligoje |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Kartais (5–29%) | 1 ligoje |
| RPA1replication protein A1 | Kartais (5–29%) | 1 ligoje |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Kartais (5–29%) | 1 ligoje |
| SMARCAD1SNF2 related chromatin remodeling ATPase with DExD box 1 | Kartais (5–29%) | 2 ligose |
| SREBF1sterol regulatory element binding transcription factor 1 | Kartais (5–29%) | 2 ligose |
| AAGABalpha and gamma adaptin binding protein | Retai (1–4 %) | 1 ligoje |
| COL14A1collagen type XIV alpha 1 chain | Retai (1–4 %) | 1 ligoje |
| GSNgelsolin | Retai (1–4 %) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Retai (1–4 %) | 1 ligoje |
| TTC7Atetratricopeptide repeat domain 7A | Retai (1–4 %) | 1 ligoje |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Neužfiksuota | 1 ligoje |
| ATL1atlastin GTPase 1 | Neužfiksuota | 1 ligoje |
| CD151CD151 molecule (Raph blood group) | Neužfiksuota | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Neužfiksuota | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| JUPjunction plakoglobin | Neužfiksuota | 1 ligoje |
| KRT86keratin 86 | Neužfiksuota | 1 ligoje |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Neužfiksuota | 1 ligoje |
| POMPproteasome maturation protein | Neužfiksuota | 1 ligoje |
| RSPO1R-spondin 1 | Neužfiksuota | 1 ligoje |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Neužfiksuota | 1 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.
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- 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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