Egenskap
Inability to produce voice sounds
Klinisk navn: 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.
Sammendrag
- Også kalt
- Voice change
- Kroppssystem
- Abnormality of the voice
ReferansegenomGRCh38hg38
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Få mitt Genome Test122 gener knyttet til Inability to produce voice sounds
Endringer i disse genene forårsaker sjeldne tilstander der Inability to produce voice sounds forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Alltid | I 1 tilstand |
| CD40LGCD40 ligand | Alltid | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Alltid | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Alltid | I 2 tilstander |
| ARandrogen receptor | Svært ofte (80–99 %) | I 1 tilstand |
| CRYABcrystallin alpha B | Svært ofte (80–99 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Svært ofte (80–99 %) | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Svært ofte (80–99 %) | I 2 tilstander |
| ANGangiogenin | Ofte (30–79 %) | I 1 tilstand |
| ANXA11annexin A11 | Ofte (30–79 %) | I 1 tilstand |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 1 tilstand |
| CCNFcyclin F | Ofte (30–79 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Ofte (30–79 %) | I 1 tilstand |
| CIZ1CDKN1A interacting zinc finger protein 1 | Ofte (30–79 %) | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DAOD-amino acid oxidase | Ofte (30–79 %) | I 1 tilstand |
| DCTN1dynactin subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Ofte (30–79 %) | I 2 tilstander |
| DLSTdihydrolipoamide S-succinyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DNAJB2DnaJ heat shock protein family (Hsp40) member B2 | Ofte (30–79 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Ofte (30–79 %) | I 1 tilstand |
| EPAS1endothelial PAS domain protein 1 | Ofte (30–79 %) | I 1 tilstand |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| FHfumarate hydratase | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FTLferritin light chain | Ofte (30–79 %) | I 2 tilstander |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Ofte (30–79 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ofte (30–79 %) | I 1 tilstand |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofte (30–79 %) | I 1 tilstand |
| KCNK9potassium two pore domain channel subfamily K member 9 | Ofte (30–79 %) | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ofte (30–79 %) | I 1 tilstand |
| MATR3matrin 3 | Ofte (30–79 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Ofte (30–79 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 2 tilstander |
| NEFHneurofilament heavy chain | Ofte (30–79 %) | I 1 tilstand |
Vis 82 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 1 tilstand |
| OPTNoptineurin | Ofte (30–79 %) | I 1 tilstand |
| PABPN1poly(A) binding protein nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| PFN1profilin 1 | Ofte (30–79 %) | I 1 tilstand |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Ofte (30–79 %) | I 2 tilstander |
| PRPHperipherin | Ofte (30–79 %) | I 1 tilstand |
| RETret proto-oncogene | Ofte (30–79 %) | I 2 tilstander |
| RNASEH1ribonuclease H1 | Ofte (30–79 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Ofte (30–79 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 1 tilstand |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Ofte (30–79 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 2 tilstander |
| SDHCsuccinate dehydrogenase complex subunit C | Ofte (30–79 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Ofte (30–79 %) | I 2 tilstander |
| SLC25A11solute carrier family 25 member 11 | Ofte (30–79 %) | I 1 tilstand |
| SOD1superoxide dismutase 1 | Ofte (30–79 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF15TATA-box binding protein associated factor 15 | Ofte (30–79 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TMEM127transmembrane protein 127 | Ofte (30–79 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ofte (30–79 %) | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Ofte (30–79 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 1 tilstand |
| VCPvalosin containing protein | Ofte (30–79 %) | I 1 tilstand |
| VHLvon Hippel-Lindau tumor suppressor | Ofte (30–79 %) | I 2 tilstander |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Noen ganger (5–29 %) | I 2 tilstander |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CAPN15calpain 15 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| FXNfrataxin | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 2 tilstander |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MFN2mitofusin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PAX8paired box 8 | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TTNtitin | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Sjelden (1–4%) | I 1 tilstand |
| EDAectodysplasin A | Ikke registrert | I 1 tilstand |
| GNALG protein subunit alpha L | Ikke registrert | I 1 tilstand |
| KCTD17potassium channel tetramerization domain containing 17 | Ikke registrert | I 1 tilstand |
| PANK2pantothenate kinase 2 | Ikke registrert | I 1 tilstand |
| PLIN4perilipin 4 | Ikke registrert | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ikke registrert | I 1 tilstand |
| THAP1THAP domain containing 1 | Ikke registrert | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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Fra 449 $Gratis frakt · Resultater på 6–8 uker