Požymis
Inability to straighten knee
Klinikinis pavadinimas: Knee flexion contracture
A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
Santrauka
- Taip pat vadinama
- Flexion contracture of knees, Flexion contractures at both knees, Flexion contractures of knees, Flexion deformity of the knee, Knee flexion contractures, Knee flexion deformity
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Inability to straighten knee. 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 |
|---|---|---|
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Visada | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Visada | 1 ligoje |
| DMDdystrophin | Visada | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 1 ligoje |
| EMDemerin | Visada | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Visada | 1 ligoje |
| FBN2fibrillin 2 | Visada | 1 ligoje |
| FKBP10FKBP prolyl isomerase 10 | Visada | 1 ligoje |
| GNB2G protein subunit beta 2 | Visada | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Visada | 2 ligose |
| KLC4kinesin light chain 4 | Visada | 1 ligoje |
| LBRlamin B receptor | Visada | 1 ligoje |
| LGI4leucine rich repeat LGI family member 4 | Visada | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Visada | 1 ligoje |
| MYO9Amyosin IXA | Visada | 1 ligoje |
| NFATC2nuclear factor of activated T cells 2 | Visada | 1 ligoje |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Visada | 1 ligoje |
| SIK3SIK family kinase 3 | Visada | 1 ligoje |
| SNAP25synaptosome associated protein 25 | Visada | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Labai dažnai (80–99%) | 1 ligoje |
| ERLIN2ER lipid raft associated 2 | Labai dažnai (80–99%) | 2 ligose |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Labai dažnai (80–99%) | 2 ligose |
| NT5C25'-nucleotidase, cytosolic II | Labai dažnai (80–99%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Dažnai (30–79%) | 2 ligose |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COL25A1collagen type XXV alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL6A2collagen type VI alpha 2 chain | Dažnai (30–79%) | 1 ligoje |
| COL6A3collagen type VI alpha 3 chain | Dažnai (30–79%) | 1 ligoje |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Dažnai (30–79%) | 1 ligoje |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 1 ligoje |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Dažnai (30–79%) | 1 ligoje |
| LIFRLIF receptor subunit alpha | Dažnai (30–79%) | 2 ligose |
| MYH3myosin heavy chain 3 | Dažnai (30–79%) | 2 ligose |
| MYL1myosin light chain 1 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 69 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MYL11myosin light chain 11 | Dažnai (30–79%) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 3 ligose |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Dažnai (30–79%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Dažnai (30–79%) | 1 ligoje |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 1 ligoje |
| SCYL2SCY1 like pseudokinase 2 | Dažnai (30–79%) | 1 ligoje |
| SLC18A3solute carrier family 18 member A3 | Dažnai (30–79%) | 1 ligoje |
| SVILsupervillin | Dažnai (30–79%) | 1 ligoje |
| SYT2synaptotagmin 2 | Dažnai (30–79%) | 1 ligoje |
| UBA1ubiquitin like modifier activating enzyme 1 | Dažnai (30–79%) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Kartais (5–29%) | 1 ligoje |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Kartais (5–29%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Kartais (5–29%) | 1 ligoje |
| COG8component of oligomeric golgi complex 8 | Kartais (5–29%) | 1 ligoje |
| DHX16DEAH-box helicase 16 | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Kartais (5–29%) | 2 ligose |
| ERLIN1ER lipid raft associated 1 | Kartais (5–29%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Kartais (5–29%) | 2 ligose |
| FHL1four and a half LIM domains 1 | Kartais (5–29%) | 1 ligoje |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Kartais (5–29%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Kartais (5–29%) | 1 ligoje |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Kartais (5–29%) | 1 ligoje |
| ITGA7integrin subunit alpha 7 | Kartais (5–29%) | 1 ligoje |
| JAG2jagged canonical Notch ligand 2 | Kartais (5–29%) | 1 ligoje |
| KYkyphoscoliosis peptidase | Kartais (5–29%) | 1 ligoje |
| LMBRD2LMBR1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Kartais (5–29%) | 1 ligoje |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Kartais (5–29%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Kartais (5–29%) | 1 ligoje |
| MYL2myosin light chain 2 | Kartais (5–29%) | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| PSAT1phosphoserine aminotransferase 1 | Kartais (5–29%) | 1 ligoje |
| RTTNrotatin | Kartais (5–29%) | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Kartais (5–29%) | 1 ligoje |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Kartais (5–29%) | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Kartais (5–29%) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Kartais (5–29%) | 1 ligoje |
| SELENONselenoprotein N | Kartais (5–29%) | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Kartais (5–29%) | 1 ligoje |
| SLC39A8solute carrier family 39 member 8 | Kartais (5–29%) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC6A11solute carrier family 6 member 11 | Kartais (5–29%) | 1 ligoje |
| TELO2telomere maintenance 2 | Kartais (5–29%) | 1 ligoje |
| TPM2tropomyosin 2 | Kartais (5–29%) | 2 ligose |
| TPM3tropomyosin 3 | Kartais (5–29%) | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| GJB2gap junction protein beta 2 | Retai (1–4 %) | 2 ligose |
| GJB6gap junction protein beta 6 | Retai (1–4 %) | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Neužfiksuota | 1 ligoje |
| BAG3BAG cochaperone 3 | Neužfiksuota | 1 ligoje |
| C19orf12chromosome 19 open reading frame 12 | Neužfiksuota | 1 ligoje |
| CNTNAP1contactin associated protein 1 | Neužfiksuota | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Neužfiksuota | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Neužfiksuota | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 1 ligoje |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Neužfiksuota | 1 ligoje |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Neužfiksuota | 1 ligoje |
| PTDSS1phosphatidylserine synthase 1 | Neužfiksuota | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Neužfiksuota | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Neužfiksuota | 1 ligoje |
| SCARF2scavenger receptor class F member 2 | Neužfiksuota | 1 ligoje |
| TGFB2transforming growth factor beta 2 | Neužfiksuota | 1 ligoje |
| TRIM2tripartite motif containing 2 | Neužfiksuota | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Neužfiksuota | 1 ligoje |
| ZBTB20zinc finger and BTB domain containing 20 | 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.
Platesni požymiai
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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