Požymis
Inability to produce voice sounds
Klinikinis pavadinimas: Dysphonia
Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.
Santrauka
- Taip pat vadinama
- Voice change
- Kūno sistema
- Abnormality of the voice
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Inability to produce voice sounds, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test122 genų susiję su Inability to produce voice sounds
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Inability to produce voice sounds. 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Visada | 1 ligoje |
| CD40LGCD40 ligand | Visada | 1 ligoje |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Visada | 1 ligoje |
| LRP12LDL receptor related protein 12 | Visada | 2 ligose |
| ARandrogen receptor | Labai dažnai (80–99%) | 1 ligoje |
| CRYABcrystallin alpha B | Labai dažnai (80–99%) | 1 ligoje |
| SIL1SIL1 nucleotide exchange factor | Labai dažnai (80–99%) | 1 ligoje |
| TUBB4Atubulin beta 4A class IVa | Labai dažnai (80–99%) | 2 ligose |
| ANGangiogenin | Dažnai (30–79%) | 1 ligoje |
| ANXA11annexin A11 | Dažnai (30–79%) | 1 ligoje |
| ATXN2ataxin 2 | Dažnai (30–79%) | 1 ligoje |
| CCNFcyclin F | Dažnai (30–79%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Dažnai (30–79%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Dažnai (30–79%) | 1 ligoje |
| CHMP2Bcharged multivesicular body protein 2B | Dažnai (30–79%) | 1 ligoje |
| CIZ1CDKN1A interacting zinc finger protein 1 | Dažnai (30–79%) | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Dažnai (30–79%) | 1 ligoje |
| DAOD-amino acid oxidase | Dažnai (30–79%) | 1 ligoje |
| DCTN1dynactin subunit 1 | Dažnai (30–79%) | 1 ligoje |
| DGUOKdeoxyguanosine kinase | Dažnai (30–79%) | 2 ligose |
| DLSTdihydrolipoamide S-succinyltransferase | Dažnai (30–79%) | 1 ligoje |
| DNAJB2DnaJ heat shock protein family (Hsp40) member B2 | Dažnai (30–79%) | 1 ligoje |
| DNMT3ADNA methyltransferase 3 alpha | Dažnai (30–79%) | 1 ligoje |
| EPAS1endothelial PAS domain protein 1 | Dažnai (30–79%) | 1 ligoje |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| FHfumarate hydratase | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| FTLferritin light chain | Dažnai (30–79%) | 2 ligose |
| FUSFUS RNA binding protein | Dažnai (30–79%) | 1 ligoje |
| GFAPglial fibrillary acidic protein | Dažnai (30–79%) | 1 ligoje |
| GLE1GLE1 RNA export mediator | Dažnai (30–79%) | 1 ligoje |
| GLT8D1glycosyltransferase 8 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Dažnai (30–79%) | 1 ligoje |
| KCNK9potassium two pore domain channel subfamily K member 9 | Dažnai (30–79%) | 1 ligoje |
| KIF1Bkinesin family member 1B | Dažnai (30–79%) | 1 ligoje |
| MATR3matrin 3 | Dažnai (30–79%) | 1 ligoje |
| MAXMYC associated transcriptional regulator X | Dažnai (30–79%) | 1 ligoje |
| MDH2malate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| MGME1mitochondrial genome maintenance exonuclease 1 | Dažnai (30–79%) | 2 ligose |
| NEFHneurofilament heavy chain | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 82 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| NEK1NIMA related kinase 1 | Dažnai (30–79%) | 1 ligoje |
| NF1neurofibromin 1 | Dažnai (30–79%) | 1 ligoje |
| OPTNoptineurin | Dažnai (30–79%) | 1 ligoje |
| PABPN1poly(A) binding protein nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| PFN1profilin 1 | Dažnai (30–79%) | 1 ligoje |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Dažnai (30–79%) | 2 ligose |
| PRPHperipherin | Dažnai (30–79%) | 1 ligoje |
| RETret proto-oncogene | Dažnai (30–79%) | 2 ligose |
| RNASEH1ribonuclease H1 | Dažnai (30–79%) | 1 ligoje |
| SBF2SET binding factor 2 | Dažnai (30–79%) | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Dažnai (30–79%) | 1 ligoje |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Dažnai (30–79%) | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Dažnai (30–79%) | 2 ligose |
| SDHCsuccinate dehydrogenase complex subunit C | Dažnai (30–79%) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Dažnai (30–79%) | 2 ligose |
| SLC25A11solute carrier family 25 member 11 | Dažnai (30–79%) | 1 ligoje |
| SOD1superoxide dismutase 1 | Dažnai (30–79%) | 1 ligoje |
| SQSTM1sequestosome 1 | Dažnai (30–79%) | 1 ligoje |
| TAF15TATA-box binding protein associated factor 15 | Dažnai (30–79%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Dažnai (30–79%) | 1 ligoje |
| TBK1TANK binding kinase 1 | Dažnai (30–79%) | 1 ligoje |
| TMEM127transmembrane protein 127 | Dažnai (30–79%) | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Dažnai (30–79%) | 1 ligoje |
| TTC19tetratricopeptide repeat domain 19 | Dažnai (30–79%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Dažnai (30–79%) | 1 ligoje |
| UNC13Aunc-13 homolog A | Dažnai (30–79%) | 1 ligoje |
| VAPBVAMP associated protein B and C | Dažnai (30–79%) | 1 ligoje |
| VCPvalosin containing protein | Dažnai (30–79%) | 1 ligoje |
| VHLvon Hippel-Lindau tumor suppressor | Dažnai (30–79%) | 2 ligose |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BIN1bridging integrator 1 | Kartais (5–29%) | 2 ligose |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| CAPN15calpain 15 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| FXNfrataxin | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Kartais (5–29%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| KMT2Blysine methyltransferase 2B | Kartais (5–29%) | 2 ligose |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| MFN2mitofusin 2 | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NEU1neuraminidase 1 | Kartais (5–29%) | 1 ligoje |
| NKX2-5NK2 homeobox 5 | Kartais (5–29%) | 1 ligoje |
| PAX8paired box 8 | Kartais (5–29%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SLC5A7solute carrier family 5 member 7 | Kartais (5–29%) | 1 ligoje |
| SPEGstriated muscle enriched protein kinase | Kartais (5–29%) | 1 ligoje |
| STX1Asyntaxin 1A | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| TPK1thiamin pyrophosphokinase 1 | Kartais (5–29%) | 1 ligoje |
| TTNtitin | Kartais (5–29%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| HK1hexokinase 1 | Retai (1–4 %) | 1 ligoje |
| EDAectodysplasin A | Neužfiksuota | 1 ligoje |
| GNALG protein subunit alpha L | Neužfiksuota | 1 ligoje |
| KCTD17potassium channel tetramerization domain containing 17 | Neužfiksuota | 1 ligoje |
| PANK2pantothenate kinase 2 | Neužfiksuota | 1 ligoje |
| PLIN4perilipin 4 | Neužfiksuota | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Neužfiksuota | 1 ligoje |
| THAP1THAP domain containing 1 | Neužfiksuota | 1 ligoje |
| TWNKtwinkle mtDNA helicase | 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.
Siauresni požymiai
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.
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites