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Tunnus
Long slender fingers
Kliiniline nimetus: Arachnodactyly
Abnormally long and slender fingers (spider fingers).
Kokkuvõte
- Teised nimetused
- Spider fingers, Long, slender fingers
Long slender fingersHP:0001166
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Read the genes linked to Long slender fingers, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test137 geeni on seotud tunnusega Long slender fingers
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Long slender fingers. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| BMP1bone morphogenetic protein 1 | Alati | Esineb 1 haiguses |
| BRD4bromodomain containing 4 | Alati | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Alati | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Alati | Esineb 1 haiguses |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Alati | Esineb 2 haiguses |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Alati | Esineb 1 haiguses |
| FBN1fibrillin 1 | Alati | Esineb 7 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Alati | Esineb 1 haiguses |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Alati | Esineb 1 haiguses |
| MOCS3molybdenum cofactor synthesis 3 | Alati | Esineb 1 haiguses |
| NPR2natriuretic peptide receptor 2 | Alati | Esineb 1 haiguses |
| PAPPA2pappalysin 2 | Alati | Esineb 1 haiguses |
| SRSF1serine and arginine rich splicing factor 1 | Alati | Esineb 1 haiguses |
| ASPHaspartate beta-hydroxylase | Väga sageli (80–99%) | Esineb 1 haiguses |
| B4GALT7beta-1,4-galactosyltransferase 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CBScystathionine beta-synthase | Väga sageli (80–99%) | Esineb 2 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| FBN2fibrillin 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NKAPNFKB activating protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Väga sageli (80–99%) | Esineb 5 haiguses |
| PQBP1polyglutamine binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCARF2scavenger receptor class F member 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SH2B1SH2B adaptor protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Väga sageli (80–99%) | Esineb 2 haiguses |
| UBE3Bubiquitin protein ligase E3B | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS13Bvacuolar protein sorting 13 homolog B | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Sageli (30–79%) | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Sageli (30–79%) | Esineb 1 haiguses |
| BGNbiglycan | Sageli (30–79%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CTBP1C-terminal binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CTSCcathepsin C | Sageli (30–79%) | Esineb 3 haiguses |
| FLNAfilamin A | Sageli (30–79%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Sageli (30–79%) | Esineb 1 haiguses |
| IPO8importin 8 | Sageli (30–79%) | Esineb 2 haiguses |
| JMJD1Cjumonji domain containing 1C | Sageli (30–79%) | Esineb 1 haiguses |
| LAGE3L antigen family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 97 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Sageli (30–79%) | Esineb 2 haiguses |
| MFAP5microfibril associated protein 5 | Sageli (30–79%) | Esineb 2 haiguses |
| MTM1myotubularin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NELFAnegative elongation factor complex member A | Sageli (30–79%) | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| OSGEPO-sialoglycoprotein endopeptidase | Sageli (30–79%) | Esineb 1 haiguses |
| PEPDpeptidase D | Sageli (30–79%) | Esineb 1 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Sageli (30–79%) | Esineb 3 haiguses |
| RECQLRecQ like helicase | Sageli (30–79%) | Esineb 1 haiguses |
| RREB1ras responsive element binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Sageli (30–79%) | Esineb 1 haiguses |
| SLC2A10solute carrier family 2 member 10 | Sageli (30–79%) | Esineb 2 haiguses |
| SMAD2SMAD family member 2 | Sageli (30–79%) | Esineb 3 haiguses |
| SMAD3SMAD family member 3 | Sageli (30–79%) | Esineb 4 haiguses |
| SMSspermine synthase | Sageli (30–79%) | Esineb 1 haiguses |
| STUB1STIP1 homology and U-box containing protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TGFB2transforming growth factor beta 2 | Sageli (30–79%) | Esineb 3 haiguses |
| TGFB3transforming growth factor beta 3 | Sageli (30–79%) | Esineb 3 haiguses |
| TGFBR1transforming growth factor beta receptor 1 | Sageli (30–79%) | Esineb 3 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Sageli (30–79%) | Esineb 3 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sageli (30–79%) | Esineb 1 haiguses |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Sageli (30–79%) | Esineb 1 haiguses |
| XYLT2xylosyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Sageli (30–79%) | Esineb 1 haiguses |
| ZDHHC9zDHHC palmitoyltransferase 9 | Sageli (30–79%) | Esineb 2 haiguses |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACTA2actin alpha 2, smooth muscle | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACTG2actin gamma 2, smooth muscle | Mõnikord (5–29%) | Esineb 1 haiguses |
| AEBP1AE binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCRBCR activator of RhoGEF and GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| C1Rcomplement C1r | Mõnikord (5–29%) | Esineb 1 haiguses |
| CICcapicua transcriptional repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRKLCRK like proto-oncogene, adaptor protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELNelastin | Mõnikord (5–29%) | Esineb 1 haiguses |
| EMILIN1elastin microfibril interfacer 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXE3forkhead box E3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3BH3.3 histone B | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LOXlysyl oxidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAT2Amethionine adenosyltransferase 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH11myosin heavy chain 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYLKmyosin light chain kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NARS1asparaginyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPR3natriuretic peptide receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OTUD6BOTU deubiquitinase 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHF8PHD finger protein 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRDM5PR/SET domain 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKG1protein kinase cGMP-dependent 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTCH1patched 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTCH2patched 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SMAD4SMAD family member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX6SRY-box transcription factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Mõnikord (5–29%) | Esineb 1 haiguses |
| THSD4thrombospondin type 1 domain containing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ZNF469zinc finger protein 469 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMP15bone morphogenetic protein 15 | Harva (1–4%) | Esineb 1 haiguses |
| BNC1basonuclin zinc finger protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| FIGLAfolliculogenesis specific bHLH transcription factor | Harva (1–4%) | Esineb 1 haiguses |
| FSHRfollicle stimulating hormone receptor | Harva (1–4%) | Esineb 1 haiguses |
| MRPS22mitochondrial ribosomal protein S22 | Harva (1–4%) | Esineb 1 haiguses |
| MSH4mutS homolog 4 | Harva (1–4%) | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Harva (1–4%) | Esineb 1 haiguses |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Harva (1–4%) | Esineb 1 haiguses |
| NUP107nucleoporin 107 | Harva (1–4%) | Esineb 3 haiguses |
| POLR3HRNA polymerase III subunit H | Harva (1–4%) | Esineb 1 haiguses |
| PSMC3IPPSMC3 interacting protein | Harva (1–4%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Harva (1–4%) | Esineb 1 haiguses |
| SPIDRscaffold protein involved in DNA repair | Harva (1–4%) | Esineb 1 haiguses |
| ZSWIM7zinc finger SWIM-type containing 7 | Harva (1–4%) | Esineb 1 haiguses |
| AMER1APC membrane recruitment protein 1 | Pole registreeritud | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Pole registreeritud | Esineb 1 haiguses |
| CNTN1contactin 1 | Pole registreeritud | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| CYP26B1cytochrome P450 family 26 subfamily B member 1 | Pole registreeritud | Esineb 1 haiguses |
| DLG4discs large MAGUK scaffold protein 4 | Pole registreeritud | Esineb 1 haiguses |
| FBLN5fibulin 5 | Pole registreeritud | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Pole registreeritud | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Pole registreeritud | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast