Piirre
Long slender fingers
Kliininen nimi: Arachnodactyly
Abnormally long and slender fingers (spider fingers).
Yhteenveto
- Tunnetaan myös nimellä
- Spider fingers, Long, slender fingers
- Elimistön järjestelmä
- Abnormality of limbsAbnormality of the musculoskeletal system
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Tilaa Genome Test137 geeniä, jotka liittyvät piirteeseen Long slender fingers
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Long slender fingers esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| BMP1bone morphogenetic protein 1 | Aina | 1 sairaudessa |
| BRD4bromodomain containing 4 | Aina | 1 sairaudessa |
| DSEdermatan sulfate epimerase | Aina | 1 sairaudessa |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Aina | 1 sairaudessa |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Aina | 2 sairaudessa |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Aina | 1 sairaudessa |
| FBN1fibrillin 1 | Aina | 7 sairaudessa |
| FGFR3fibroblast growth factor receptor 3 | Aina | 1 sairaudessa |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Aina | 1 sairaudessa |
| MOCS3molybdenum cofactor synthesis 3 | Aina | 1 sairaudessa |
| NPR2natriuretic peptide receptor 2 | Aina | 1 sairaudessa |
| PAPPA2pappalysin 2 | Aina | 1 sairaudessa |
| SRSF1serine and arginine rich splicing factor 1 | Aina | 1 sairaudessa |
| ASPHaspartate beta-hydroxylase | Hyvin usein (80–99%) | 1 sairaudessa |
| B4GALT7beta-1,4-galactosyltransferase 7 | Hyvin usein (80–99%) | 2 sairaudessa |
| CBScystathionine beta-synthase | Hyvin usein (80–99%) | 2 sairaudessa |
| CHRNGcholinergic receptor nicotinic gamma subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| FBN2fibrillin 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| NKAPNFKB activating protein | Hyvin usein (80–99%) | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Hyvin usein (80–99%) | 5 sairaudessa |
| PQBP1polyglutamine binding protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SCARF2scavenger receptor class F member 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| SH2B1SH2B adaptor protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SKISKI proto-oncogene | Hyvin usein (80–99%) | 2 sairaudessa |
| UBE3Bubiquitin protein ligase E3B | Hyvin usein (80–99%) | 1 sairaudessa |
| VPS13Bvacuolar protein sorting 13 homolog B | Hyvin usein (80–99%) | 1 sairaudessa |
| ARVCFARVCF delta catenin family member | Usein (30–79%) | 1 sairaudessa |
| B3GALT6beta-1,3-galactosyltransferase 6 | Usein (30–79%) | 1 sairaudessa |
| BGNbiglycan | Usein (30–79%) | 1 sairaudessa |
| COMTcatechol-O-methyltransferase | Usein (30–79%) | 1 sairaudessa |
| CPLX1complexin 1 | Usein (30–79%) | 1 sairaudessa |
| CTBP1C-terminal binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| CTSCcathepsin C | Usein (30–79%) | 3 sairaudessa |
| FLNAfilamin A | Usein (30–79%) | 1 sairaudessa |
| GP1BBglycoprotein Ib platelet subunit beta | Usein (30–79%) | 1 sairaudessa |
| HIRAhistone cell cycle regulator | Usein (30–79%) | 1 sairaudessa |
| IPO8importin 8 | Usein (30–79%) | 2 sairaudessa |
| JMJD1Cjumonji domain containing 1C | Usein (30–79%) | 1 sairaudessa |
| LAGE3L antigen family member 3 | Usein (30–79%) | 1 sairaudessa |
Näytä 97 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Usein (30–79%) | 1 sairaudessa |
| MED12mediator complex subunit 12 | Usein (30–79%) | 2 sairaudessa |
| MFAP5microfibril associated protein 5 | Usein (30–79%) | 2 sairaudessa |
| MTM1myotubularin 1 | Usein (30–79%) | 1 sairaudessa |
| NELFAnegative elongation factor complex member A | Usein (30–79%) | 1 sairaudessa |
| NSD2nuclear receptor binding SET domain protein 2 | Usein (30–79%) | 1 sairaudessa |
| OSGEPO-sialoglycoprotein endopeptidase | Usein (30–79%) | 1 sairaudessa |
| PEPDpeptidase D | Usein (30–79%) | 1 sairaudessa |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Usein (30–79%) | 1 sairaudessa |
| PORcytochrome p450 oxidoreductase | Usein (30–79%) | 3 sairaudessa |
| RECQLRecQ like helicase | Usein (30–79%) | 1 sairaudessa |
| RREB1ras responsive element binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| SEC24CSEC24 homolog C, COPII component | Usein (30–79%) | 1 sairaudessa |
| SLC2A10solute carrier family 2 member 10 | Usein (30–79%) | 2 sairaudessa |
| SMAD2SMAD family member 2 | Usein (30–79%) | 3 sairaudessa |
| SMAD3SMAD family member 3 | Usein (30–79%) | 4 sairaudessa |
| SMSspermine synthase | Usein (30–79%) | 1 sairaudessa |
| STUB1STIP1 homology and U-box containing protein 1 | Usein (30–79%) | 1 sairaudessa |
| TBX1T-box transcription factor 1 | Usein (30–79%) | 1 sairaudessa |
| TGFB2transforming growth factor beta 2 | Usein (30–79%) | 3 sairaudessa |
| TGFB3transforming growth factor beta 3 | Usein (30–79%) | 3 sairaudessa |
| TGFBR1transforming growth factor beta receptor 1 | Usein (30–79%) | 3 sairaudessa |
| TGFBR2transforming growth factor beta receptor 2 | Usein (30–79%) | 3 sairaudessa |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Usein (30–79%) | 1 sairaudessa |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Usein (30–79%) | 1 sairaudessa |
| XYLT2xylosyltransferase 2 | Usein (30–79%) | 1 sairaudessa |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Usein (30–79%) | 1 sairaudessa |
| ZDHHC9zDHHC palmitoyltransferase 9 | Usein (30–79%) | 2 sairaudessa |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Joskus (5–29%) | 1 sairaudessa |
| ACTA2actin alpha 2, smooth muscle | Joskus (5–29%) | 1 sairaudessa |
| ACTG2actin gamma 2, smooth muscle | Joskus (5–29%) | 1 sairaudessa |
| AEBP1AE binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Joskus (5–29%) | 1 sairaudessa |
| ASXL3ASXL transcriptional regulator 3 | Joskus (5–29%) | 2 sairaudessa |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Joskus (5–29%) | 1 sairaudessa |
| BCRBCR activator of RhoGEF and GTPase | Joskus (5–29%) | 1 sairaudessa |
| C1Rcomplement C1r | Joskus (5–29%) | 1 sairaudessa |
| CICcapicua transcriptional repressor | Joskus (5–29%) | 1 sairaudessa |
| CRKLCRK like proto-oncogene, adaptor protein | Joskus (5–29%) | 1 sairaudessa |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| ELNelastin | Joskus (5–29%) | 1 sairaudessa |
| EMILIN1elastin microfibril interfacer 1 | Joskus (5–29%) | 1 sairaudessa |
| FBXO11F-box protein 11 | Joskus (5–29%) | 1 sairaudessa |
| FOXE3forkhead box E3 | Joskus (5–29%) | 1 sairaudessa |
| H3-3BH3.3 histone B | Joskus (5–29%) | 1 sairaudessa |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Joskus (5–29%) | 1 sairaudessa |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Joskus (5–29%) | 1 sairaudessa |
| LOXlysyl oxidase | Joskus (5–29%) | 1 sairaudessa |
| MAPK1mitogen-activated protein kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| MAT2Amethionine adenosyltransferase 2A | Joskus (5–29%) | 1 sairaudessa |
| MYH11myosin heavy chain 11 | Joskus (5–29%) | 1 sairaudessa |
| MYLKmyosin light chain kinase | Joskus (5–29%) | 1 sairaudessa |
| NARS1asparaginyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| NPR3natriuretic peptide receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| OTUD6BOTU deubiquitinase 6B | Joskus (5–29%) | 1 sairaudessa |
| PHF8PHD finger protein 8 | Joskus (5–29%) | 1 sairaudessa |
| PRDM5PR/SET domain 5 | Joskus (5–29%) | 1 sairaudessa |
| PRKG1protein kinase cGMP-dependent 1 | Joskus (5–29%) | 1 sairaudessa |
| PTCH1patched 1 | Joskus (5–29%) | 1 sairaudessa |
| PTCH2patched 2 | Joskus (5–29%) | 1 sairaudessa |
| PYCR2pyrroline-5-carboxylate reductase 2 | Joskus (5–29%) | 2 sairaudessa |
| RNU5B-1RNA, U5B small nuclear 1 | Joskus (5–29%) | 1 sairaudessa |
| SATB2SATB homeobox 2 | Joskus (5–29%) | 2 sairaudessa |
| SMAD4SMAD family member 4 | Joskus (5–29%) | 1 sairaudessa |
| SONSON DNA and RNA binding protein | Joskus (5–29%) | 1 sairaudessa |
| SOX6SRY-box transcription factor 6 | Joskus (5–29%) | 1 sairaudessa |
| SUFUSUFU negative regulator of hedgehog signaling | Joskus (5–29%) | 1 sairaudessa |
| THSD4thrombospondin type 1 domain containing 4 | Joskus (5–29%) | 1 sairaudessa |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| ZEB2zinc finger E-box binding homeobox 2 | Joskus (5–29%) | 2 sairaudessa |
| ZNF469zinc finger protein 469 | Joskus (5–29%) | 1 sairaudessa |
| BMP15bone morphogenetic protein 15 | Harvinainen (1–4 %) | 1 sairaudessa |
| BNC1basonuclin zinc finger protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| FIGLAfolliculogenesis specific bHLH transcription factor | Harvinainen (1–4 %) | 1 sairaudessa |
| FSHRfollicle stimulating hormone receptor | Harvinainen (1–4 %) | 1 sairaudessa |
| MRPS22mitochondrial ribosomal protein S22 | Harvinainen (1–4 %) | 1 sairaudessa |
| MSH4mutS homolog 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| NALCNsodium leak channel, non-selective | Harvinainen (1–4 %) | 1 sairaudessa |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| NUP107nucleoporin 107 | Harvinainen (1–4 %) | 3 sairaudessa |
| POLR3HRNA polymerase III subunit H | Harvinainen (1–4 %) | 1 sairaudessa |
| PSMC3IPPSMC3 interacting protein | Harvinainen (1–4 %) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| SPIDRscaffold protein involved in DNA repair | Harvinainen (1–4 %) | 1 sairaudessa |
| ZSWIM7zinc finger SWIM-type containing 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| AMER1APC membrane recruitment protein 1 | Ei kirjattu | 1 sairaudessa |
| CHST14carbohydrate sulfotransferase 14 | Ei kirjattu | 1 sairaudessa |
| CNTN1contactin 1 | Ei kirjattu | 1 sairaudessa |
| COL11A1collagen type XI alpha 1 chain | Ei kirjattu | 1 sairaudessa |
| COL2A1collagen type II alpha 1 chain | Ei kirjattu | 1 sairaudessa |
| CYP26B1cytochrome P450 family 26 subfamily B member 1 | Ei kirjattu | 1 sairaudessa |
| DLG4discs large MAGUK scaffold protein 4 | Ei kirjattu | 1 sairaudessa |
| FBLN5fibulin 5 | Ei kirjattu | 1 sairaudessa |
| FGFR2fibroblast growth factor receptor 2 | Ei kirjattu | 1 sairaudessa |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Ei kirjattu | 1 sairaudessa |
| SIN3ASIN3 transcription regulator family member A | Ei kirjattu | 1 sairaudessa |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa