Požymis
Wasting syndrome
Klinikinis pavadinimas: Cachexia
Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
Santrauka
- Kūno sistema
- Growth abnormality
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Wasting syndrome, and the rest of your genome, with one test.
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Įsigyti savo Genome Test108 genų susiję su Wasting syndrome
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Wasting syndrome. 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 |
|---|---|---|
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Visada | 2 ligose |
| POLGDNA polymerase gamma, catalytic subunit | Visada | 3 ligose |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Visada | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ATRATR checkpoint kinase | Labai dažnai (80–99%) | 1 ligoje |
| ATRIPATR interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| CD4CD4 molecule | Labai dažnai (80–99%) | 1 ligoje |
| CENPEcentromere protein E | Labai dažnai (80–99%) | 1 ligoje |
| CEP152centrosomal protein 152 | Labai dažnai (80–99%) | 1 ligoje |
| CEP295centrosomal protein 295 | Labai dažnai (80–99%) | 1 ligoje |
| CEP63centrosomal protein 63 | Labai dažnai (80–99%) | 1 ligoje |
| CPAPcentrosome assembly and centriole elongation protein | Labai dažnai (80–99%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC5ERCC excision repair 5, endonuclease | Labai dažnai (80–99%) | 1 ligoje |
| IRF4interferon regulatory factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| LIG3DNA ligase 3 | Labai dažnai (80–99%) | 1 ligoje |
| LPIN2lipin 2 | Labai dažnai (80–99%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Labai dažnai (80–99%) | 1 ligoje |
| NBNnibrin | Labai dažnai (80–99%) | 1 ligoje |
| NINninein | Labai dažnai (80–99%) | 1 ligoje |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Labai dažnai (80–99%) | 1 ligoje |
| NUP85nucleoporin 85 | Labai dažnai (80–99%) | 1 ligoje |
| PCNTpericentrin | Labai dažnai (80–99%) | 1 ligoje |
| PLK4polo like kinase 4 | Labai dažnai (80–99%) | 1 ligoje |
| RBBP8RB binding protein 8, endonuclease | Labai dažnai (80–99%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Labai dažnai (80–99%) | 2 ligose |
| SLC9A6solute carrier family 9 member A6 | Labai dažnai (80–99%) | 1 ligoje |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| TRAIPTRAF interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| TRIM37tripartite motif containing 37 | Labai dažnai (80–99%) | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Labai dažnai (80–99%) | 1 ligoje |
| TSHZ3teashirt zinc finger homeobox 3 | Labai dažnai (80–99%) | 1 ligoje |
| TYMPthymidine phosphorylase | Labai dažnai (80–99%) | 2 ligose |
| BMPR1Abone morphogenetic protein receptor type 1A | Dažnai (30–79%) | 1 ligoje |
| CUL4Bcullin 4B | Dažnai (30–79%) | 1 ligoje |
| LIPAlipase A, lysosomal acid type | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 68 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PTENphosphatase and tensin homolog | Dažnai (30–79%) | 2 ligose |
| RRM1ribonucleotide reductase catalytic subunit M1 | Dažnai (30–79%) | 1 ligoje |
| SLC6A8solute carrier family 6 member 8 | Dažnai (30–79%) | 1 ligoje |
| VPS13Cvacuolar protein sorting 13 homolog C | Dažnai (30–79%) | 1 ligoje |
| ACADMacyl-CoA dehydrogenase medium chain | Kartais (5–29%) | 1 ligoje |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Kartais (5–29%) | 1 ligoje |
| ANGangiogenin | Kartais (5–29%) | 1 ligoje |
| ANXA11annexin A11 | Kartais (5–29%) | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Kartais (5–29%) | 1 ligoje |
| ATXN2ataxin 2 | Kartais (5–29%) | 1 ligoje |
| CCNFcyclin F | Kartais (5–29%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Kartais (5–29%) | 1 ligoje |
| CFTRCF transmembrane conductance regulator | Kartais (5–29%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Kartais (5–29%) | 1 ligoje |
| CHMP2Bcharged multivesicular body protein 2B | Kartais (5–29%) | 1 ligoje |
| DAOD-amino acid oxidase | Kartais (5–29%) | 1 ligoje |
| DCTN1dynactin subunit 1 | Kartais (5–29%) | 1 ligoje |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Kartais (5–29%) | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Kartais (5–29%) | 1 ligoje |
| EWSR1EWS RNA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Kartais (5–29%) | 1 ligoje |
| FOXP3forkhead box P3 | Kartais (5–29%) | 1 ligoje |
| FUSFUS RNA binding protein | Kartais (5–29%) | 2 ligose |
| GALCgalactosylceramidase | Kartais (5–29%) | 1 ligoje |
| GFAPglial fibrillary acidic protein | Kartais (5–29%) | 1 ligoje |
| GLE1GLE1 RNA export mediator | Kartais (5–29%) | 1 ligoje |
| GLT8D1glycosyltransferase 8 domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Kartais (5–29%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| LMNAlamin A/C | Kartais (5–29%) | 1 ligoje |
| LRP12LDL receptor related protein 12 | Kartais (5–29%) | 1 ligoje |
| MATR3matrin 3 | Kartais (5–29%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Kartais (5–29%) | 1 ligoje |
| NEFHneurofilament heavy chain | Kartais (5–29%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Kartais (5–29%) | 1 ligoje |
| OPTNoptineurin | Kartais (5–29%) | 1 ligoje |
| PFN1profilin 1 | Kartais (5–29%) | 1 ligoje |
| PRPHperipherin | Kartais (5–29%) | 1 ligoje |
| PSAPprosaposin | Kartais (5–29%) | 1 ligoje |
| SCNN1Asodium channel epithelial 1 subunit alpha | Kartais (5–29%) | 1 ligoje |
| SCNN1Bsodium channel epithelial 1 subunit beta | Kartais (5–29%) | 1 ligoje |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Kartais (5–29%) | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Kartais (5–29%) | 1 ligoje |
| SOD1superoxide dismutase 1 | Kartais (5–29%) | 1 ligoje |
| SORDsorbitol dehydrogenase | Kartais (5–29%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Kartais (5–29%) | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Kartais (5–29%) | 1 ligoje |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Kartais (5–29%) | 1 ligoje |
| SQSTM1sequestosome 1 | Kartais (5–29%) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 1 ligoje |
| TAF15TATA-box binding protein associated factor 15 | Kartais (5–29%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Kartais (5–29%) | 2 ligose |
| TBK1TANK binding kinase 1 | Kartais (5–29%) | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Kartais (5–29%) | 1 ligoje |
| TRMT2BtRNA methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Kartais (5–29%) | 2 ligose |
| UNC13Aunc-13 homolog A | Kartais (5–29%) | 1 ligoje |
| VAPBVAMP associated protein B and C | Kartais (5–29%) | 1 ligoje |
| VCPvalosin containing protein | Kartais (5–29%) | 1 ligoje |
| WT1WT1 transcription factor | Kartais (5–29%) | 1 ligoje |
| CALRcalreticulin | Retai (1–4 %) | 1 ligoje |
| JAK2Janus kinase 2 | Retai (1–4 %) | 1 ligoje |
| MPLMPL proto-oncogene, thrombopoietin receptor | Retai (1–4 %) | 1 ligoje |
| TET2tet methylcytosine dioxygenase 2 | Retai (1–4 %) | 1 ligoje |
| CNTNAP1contactin associated protein 1 | Neužfiksuota | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | 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.
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- 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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