Požymis
Long slender fingers
Klinikinis pavadinimas: Arachnodactyly
Abnormally long and slender fingers (spider fingers).
Santrauka
- Taip pat vadinama
- Spider fingers, Long, slender fingers
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test137 genų susiję su Long slender fingers
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Long slender fingers. 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 |
|---|---|---|
| BMP1bone morphogenetic protein 1 | Visada | 1 ligoje |
| BRD4bromodomain containing 4 | Visada | 1 ligoje |
| DSEdermatan sulfate epimerase | Visada | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Visada | 1 ligoje |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Visada | 2 ligose |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Visada | 1 ligoje |
| FBN1fibrillin 1 | Visada | 7 ligose |
| FGFR3fibroblast growth factor receptor 3 | Visada | 1 ligoje |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Visada | 1 ligoje |
| MOCS3molybdenum cofactor synthesis 3 | Visada | 1 ligoje |
| NPR2natriuretic peptide receptor 2 | Visada | 1 ligoje |
| PAPPA2pappalysin 2 | Visada | 1 ligoje |
| SRSF1serine and arginine rich splicing factor 1 | Visada | 1 ligoje |
| ASPHaspartate beta-hydroxylase | Labai dažnai (80–99%) | 1 ligoje |
| B4GALT7beta-1,4-galactosyltransferase 7 | Labai dažnai (80–99%) | 2 ligose |
| CBScystathionine beta-synthase | Labai dažnai (80–99%) | 2 ligose |
| CHRNGcholinergic receptor nicotinic gamma subunit | Labai dažnai (80–99%) | 1 ligoje |
| FBN2fibrillin 2 | Labai dažnai (80–99%) | 2 ligose |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Labai dažnai (80–99%) | 2 ligose |
| NKAPNFKB activating protein | Labai dažnai (80–99%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Labai dažnai (80–99%) | 5 ligose |
| PQBP1polyglutamine binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| SCARF2scavenger receptor class F member 2 | Labai dažnai (80–99%) | 2 ligose |
| SH2B1SH2B adaptor protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 2 ligose |
| UBE3Bubiquitin protein ligase E3B | Labai dažnai (80–99%) | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Labai dažnai (80–99%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Dažnai (30–79%) | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Dažnai (30–79%) | 1 ligoje |
| BGNbiglycan | Dažnai (30–79%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| CTSCcathepsin C | Dažnai (30–79%) | 3 ligose |
| FLNAfilamin A | Dažnai (30–79%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Dažnai (30–79%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Dažnai (30–79%) | 1 ligoje |
| IPO8importin 8 | Dažnai (30–79%) | 2 ligose |
| JMJD1Cjumonji domain containing 1C | Dažnai (30–79%) | 1 ligoje |
| LAGE3L antigen family member 3 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 97 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 2 ligose |
| MFAP5microfibril associated protein 5 | Dažnai (30–79%) | 2 ligose |
| MTM1myotubularin 1 | Dažnai (30–79%) | 1 ligoje |
| NELFAnegative elongation factor complex member A | Dažnai (30–79%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Dažnai (30–79%) | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Dažnai (30–79%) | 1 ligoje |
| PEPDpeptidase D | Dažnai (30–79%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Dažnai (30–79%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Dažnai (30–79%) | 3 ligose |
| RECQLRecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Dažnai (30–79%) | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Dažnai (30–79%) | 2 ligose |
| SMAD2SMAD family member 2 | Dažnai (30–79%) | 3 ligose |
| SMAD3SMAD family member 3 | Dažnai (30–79%) | 4 ligose |
| SMSspermine synthase | Dažnai (30–79%) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Dažnai (30–79%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TGFB2transforming growth factor beta 2 | Dažnai (30–79%) | 3 ligose |
| TGFB3transforming growth factor beta 3 | Dažnai (30–79%) | 3 ligose |
| TGFBR1transforming growth factor beta receptor 1 | Dažnai (30–79%) | 3 ligose |
| TGFBR2transforming growth factor beta receptor 2 | Dažnai (30–79%) | 3 ligose |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Dažnai (30–79%) | 1 ligoje |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Dažnai (30–79%) | 1 ligoje |
| XYLT2xylosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Dažnai (30–79%) | 1 ligoje |
| ZDHHC9zDHHC palmitoyltransferase 9 | Dažnai (30–79%) | 2 ligose |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| ACTA2actin alpha 2, smooth muscle | Kartais (5–29%) | 1 ligoje |
| ACTG2actin gamma 2, smooth muscle | Kartais (5–29%) | 1 ligoje |
| AEBP1AE binding protein 1 | Kartais (5–29%) | 1 ligoje |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Kartais (5–29%) | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Kartais (5–29%) | 2 ligose |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Kartais (5–29%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Kartais (5–29%) | 1 ligoje |
| C1Rcomplement C1r | Kartais (5–29%) | 1 ligoje |
| CICcapicua transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| CRKLCRK like proto-oncogene, adaptor protein | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| EMILIN1elastin microfibril interfacer 1 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FOXE3forkhead box E3 | Kartais (5–29%) | 1 ligoje |
| H3-3BH3.3 histone B | Kartais (5–29%) | 1 ligoje |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Kartais (5–29%) | 1 ligoje |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Kartais (5–29%) | 1 ligoje |
| LOXlysyl oxidase | Kartais (5–29%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MAT2Amethionine adenosyltransferase 2A | Kartais (5–29%) | 1 ligoje |
| MYH11myosin heavy chain 11 | Kartais (5–29%) | 1 ligoje |
| MYLKmyosin light chain kinase | Kartais (5–29%) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| NPR3natriuretic peptide receptor 3 | Kartais (5–29%) | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Kartais (5–29%) | 1 ligoje |
| PHF8PHD finger protein 8 | Kartais (5–29%) | 1 ligoje |
| PRDM5PR/SET domain 5 | Kartais (5–29%) | 1 ligoje |
| PRKG1protein kinase cGMP-dependent 1 | Kartais (5–29%) | 1 ligoje |
| PTCH1patched 1 | Kartais (5–29%) | 1 ligoje |
| PTCH2patched 2 | Kartais (5–29%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Kartais (5–29%) | 2 ligose |
| RNU5B-1RNA, U5B small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 2 ligose |
| SMAD4SMAD family member 4 | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 1 ligoje |
| SOX6SRY-box transcription factor 6 | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 1 ligoje |
| THSD4thrombospondin type 1 domain containing 4 | Kartais (5–29%) | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 2 ligose |
| ZNF469zinc finger protein 469 | Kartais (5–29%) | 1 ligoje |
| BMP15bone morphogenetic protein 15 | Retai (1–4 %) | 1 ligoje |
| BNC1basonuclin zinc finger protein 1 | Retai (1–4 %) | 1 ligoje |
| FIGLAfolliculogenesis specific bHLH transcription factor | Retai (1–4 %) | 1 ligoje |
| FSHRfollicle stimulating hormone receptor | Retai (1–4 %) | 1 ligoje |
| MRPS22mitochondrial ribosomal protein S22 | Retai (1–4 %) | 1 ligoje |
| MSH4mutS homolog 4 | Retai (1–4 %) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Retai (1–4 %) | 1 ligoje |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Retai (1–4 %) | 1 ligoje |
| NUP107nucleoporin 107 | Retai (1–4 %) | 3 ligose |
| POLR3HRNA polymerase III subunit H | Retai (1–4 %) | 1 ligoje |
| PSMC3IPPSMC3 interacting protein | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| SPIDRscaffold protein involved in DNA repair | Retai (1–4 %) | 1 ligoje |
| ZSWIM7zinc finger SWIM-type containing 7 | Retai (1–4 %) | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Neužfiksuota | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Neužfiksuota | 1 ligoje |
| CNTN1contactin 1 | Neužfiksuota | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Neužfiksuota | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Neužfiksuota | 1 ligoje |
| CYP26B1cytochrome P450 family 26 subfamily B member 1 | Neužfiksuota | 1 ligoje |
| DLG4discs large MAGUK scaffold protein 4 | Neužfiksuota | 1 ligoje |
| FBLN5fibulin 5 | Neužfiksuota | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Neužfiksuota | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Neužfiksuota | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Neužfiksuota | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | 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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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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