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Požymis
Excessive inward curvature of lower spine
Klinikinis pavadinimas: Lumbar hyperlordosis
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Santrauka
- Taip pat vadinama
- Exaggerated lumbar lordosis, Increased lumbar lordosis, Lumbar lordosis, Prominent lumbar lordosis
- Kūno sistema
- Abnormality of the musculoskeletal system
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Read the genes linked to Excessive inward curvature of lower spine, and the rest of your genome, with one test.
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Įsigyti savo Genome Test109 genų susiję su Excessive inward curvature of lower spine
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Excessive inward curvature of lower spine. 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 |
|---|---|---|
| ACANaggrecan | Visada | 3 ligose |
| CLCF1cardiotrophin like cytokine factor 1 | Visada | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Visada | 2 ligose |
| DAG1dystroglycan 1 | Visada | 2 ligose |
| DYMdymeclin | Visada | 1 ligoje |
| FLNAfilamin A | Visada | 1 ligoje |
| GARS1glycyl-tRNA synthetase 1 | Visada | 1 ligoje |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Visada | 1 ligoje |
| HSPB8heat shock protein family B (small) member 8 | Visada | 1 ligoje |
| ITCHitchy E3 ubiquitin protein ligase | Visada | 1 ligoje |
| JPH1junctophilin 1 | Visada | 1 ligoje |
| KYkyphoscoliosis peptidase | Visada | 1 ligoje |
| MYH7myosin heavy chain 7 | Visada | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Visada | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Visada | 2 ligose |
| SGSM3small G protein signaling modulator 3 | Visada | 1 ligoje |
| SLC13A1solute carrier family 13 member 1 | Visada | 1 ligoje |
| SMAD4SMAD family member 4 | Visada | 1 ligoje |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Visada | 2 ligose |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 1 ligoje |
| BGNbiglycan | Labai dažnai (80–99%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Labai dažnai (80–99%) | 4 ligose |
| MATN3matrilin 3 | Labai dažnai (80–99%) | 2 ligose |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Labai dažnai (80–99%) | 1 ligoje |
| PRG4proteoglycan 4 | Labai dažnai (80–99%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Labai dažnai (80–99%) | 1 ligoje |
| ABCC9ATP binding cassette subfamily C member 9 | Dažnai (30–79%) | 1 ligoje |
| ACP5acid phosphatase 5, tartrate resistant | Dažnai (30–79%) | 1 ligoje |
| ALX3ALX homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| ARSBarylsulfatase B | Dažnai (30–79%) | 1 ligoje |
| CFL2cofilin 2 | Dažnai (30–79%) | 1 ligoje |
| CHST11carbohydrate sulfotransferase 11 | Dažnai (30–79%) | 1 ligoje |
| COL10A1collagen type X alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COL27A1collagen type XXVII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COMPcartilage oligomeric matrix protein | Dažnai (30–79%) | 2 ligose |
| DMDdystrophin | Dažnai (30–79%) | 1 ligoje |
| DNM2dynamin 2 | Dažnai (30–79%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Dažnai (30–79%) | 2 ligose |
| FGFR3fibroblast growth factor receptor 3 | Dažnai (30–79%) | 4 ligose |
Rodyti dar 69 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| FKRPfukutin related protein | Dažnai (30–79%) | 1 ligoje |
| FLNBfilamin B | Dažnai (30–79%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Dažnai (30–79%) | 2 ligose |
| GSCgoosecoid homeobox | Dažnai (30–79%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 1 ligoje |
| IHHIndian hedgehog signaling molecule | Dažnai (30–79%) | 1 ligoje |
| LIPElipase E, hormone sensitive type | Dažnai (30–79%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Dažnai (30–79%) | 2 ligose |
| MTMR14myotubularin related protein 14 | Dažnai (30–79%) | 1 ligoje |
| MYBPC1myosin binding protein C1 | Dažnai (30–79%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Dažnai (30–79%) | 1 ligoje |
| POLR3GLRNA polymerase III subunit GL | Dažnai (30–79%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Dažnai (30–79%) | 1 ligoje |
| POMKprotein O-mannose kinase | Dažnai (30–79%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Dažnai (30–79%) | 3 ligose |
| POMT2protein O-mannosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| PRKG2protein kinase cGMP-dependent 2 | Dažnai (30–79%) | 1 ligoje |
| SGCGsarcoglycan gamma | Dažnai (30–79%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Dažnai (30–79%) | 3 ligose |
| SOX5SRY-box transcription factor 5 | Dažnai (30–79%) | 1 ligoje |
| TMEM63Ctransmembrane protein 63C | Dažnai (30–79%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 1 ligoje |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Kartais (5–29%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Kartais (5–29%) | 1 ligoje |
| ASH1LASH1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL6A2collagen type VI alpha 2 chain | Kartais (5–29%) | 2 ligose |
| COL6A3collagen type VI alpha 3 chain | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| FN1fibronectin 1 | Kartais (5–29%) | 1 ligoje |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Kartais (5–29%) | 1 ligoje |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Kartais (5–29%) | 1 ligoje |
| LTBP1latent transforming growth factor beta binding protein 1 | Kartais (5–29%) | 1 ligoje |
| MYPNmyopalladin | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 1 ligoje |
| SYT1synaptotagmin 1 | Kartais (5–29%) | 1 ligoje |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Kartais (5–29%) | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Kartais (5–29%) | 2 ligose |
| TPM2tropomyosin 2 | Kartais (5–29%) | 1 ligoje |
| TPM3tropomyosin 3 | Kartais (5–29%) | 2 ligose |
| TRAPPC2trafficking protein particle complex subunit 2 | Kartais (5–29%) | 2 ligose |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Kartais (5–29%) | 1 ligoje |
| VCPvalosin containing protein | Kartais (5–29%) | 2 ligose |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Kartais (5–29%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Retai (1–4 %) | 1 ligoje |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Neužfiksuota | 1 ligoje |
| BCORBCL6 corepressor | Neužfiksuota | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Neužfiksuota | 1 ligoje |
| DDRGK1DDRGK domain containing 1 | Neužfiksuota | 1 ligoje |
| FBN1fibrillin 1 | Neužfiksuota | 1 ligoje |
| FUCA1alpha-L-fucosidase 1 | Neužfiksuota | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| MED12mediator complex subunit 12 | Neužfiksuota | 1 ligoje |
| MFN2mitofusin 2 | Neužfiksuota | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Neužfiksuota | 1 ligoje |
| NPR2natriuretic peptide receptor 2 | Neužfiksuota | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 1 ligoje |
| PLECplectin | Neužfiksuota | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Neužfiksuota | 1 ligoje |
| SHOXSHOX homeobox | Neužfiksuota | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | 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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