Tunnus
Joint contracture
A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.
Kokkuvõte
- Teised nimetused
- Contracture
- Kehasüsteem
- Abnormality of the musculoskeletal system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Joint contracture, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test66 geeni on seotud tunnusega Joint contracture
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Joint contracture. 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Alati | Esineb 1 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Alati | Esineb 1 haiguses |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Alati | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alati | Esineb 1 haiguses |
| BRAT1BRCA1 associated ATM activator 1 | Alati | Esineb 1 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Alati | Esineb 1 haiguses |
| ERLIN2ER lipid raft associated 2 | Alati | Esineb 1 haiguses |
| FCSKfucose kinase | Alati | Esineb 1 haiguses |
| FLVCR1FLVCR choline and heme transporter 1 | Alati | Esineb 1 haiguses |
| HSPB8heat shock protein family B (small) member 8 | Alati | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Alati | Esineb 1 haiguses |
| LIASlipoic acid synthetase | Alati | Esineb 1 haiguses |
| LMNAlamin A/C | Alati | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Alati | Esineb 1 haiguses |
| POLD1DNA polymerase delta 1, catalytic subunit | Alati | Esineb 1 haiguses |
| SNUPNsnurportin 1 | Alati | Esineb 1 haiguses |
| SPTSSAserine palmitoyltransferase small subunit A | Alati | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Alati | Esineb 1 haiguses |
| TTNtitin | Alati | Esineb 1 haiguses |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FAM111BFAM111 trypsin like peptidase B | Väga sageli (80–99%) | Esineb 1 haiguses |
| FLVCR2FLVCR choline and putative heme transporter 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NKX6-2NK6 homeobox 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRUNE1prune exopolyphosphatase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR45BWD repeat domain 45B | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| BGNbiglycan | Sageli (30–79%) | Esineb 1 haiguses |
| BUD13BUD13 spliceosome associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| COG3component of oligomeric golgi complex 3 | Sageli (30–79%) | Esineb 1 haiguses |
| COL6A3collagen type VI alpha 3 chain | Sageli (30–79%) | Esineb 1 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| FAM177A1family with sequence similarity 177 member A1 | Sageli (30–79%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FUT8fucosyltransferase 8 | Sageli (30–79%) | Esineb 1 haiguses |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HIKESHIheat shock protein nuclear import factor hikeshi | Sageli (30–79%) | Esineb 1 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Sageli (30–79%) | Esineb 1 haiguses |
| KLHL7kelch like family member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 26 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| MRPS34mitochondrial ribosomal protein S34 | Sageli (30–79%) | Esineb 1 haiguses |
| NCAPG2non-SMC condensin II complex subunit G2 | Sageli (30–79%) | Esineb 1 haiguses |
| PGBD5piggyBac transposable element derived 5 | Sageli (30–79%) | Esineb 1 haiguses |
| SCARF2scavenger receptor class F member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| STAT4signal transducer and activator of transcription 4 | Sageli (30–79%) | Esineb 1 haiguses |
| STIM1stromal interaction molecule 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Sageli (30–79%) | Esineb 1 haiguses |
| TOR1AIP1torsin 1A interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TRIP4thyroid hormone receptor interactor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COASYCoenzyme A synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXOSC8exosome component 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLNCfilamin C | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GSCgoosecoid homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| NACC1nucleus accumbens associated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PCNAproliferating cell nuclear antigen | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1ARNA polymerase I subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNPO3transportin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAF7TNF receptor associated factor 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDCdopa decarboxylase | Harva (1–4%) | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | 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.
Kitsamad tunnused
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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast