Tunnus
Nasal speech
Kliiniline nimetus: Hypernasal speech
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
Kokkuvõte
- Teised nimetused
- Nasal voice, Hypernasal voice
- Kehasüsteem
- Abnormality of the voice
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Nasal speech, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test110 geeni on seotud tunnusega Nasal speech
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Nasal speech. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CEP104centrosomal protein 104 | Alati | Esineb 1 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| JPH1junctophilin 1 | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| MEGF10multiple EGF like domains 10 | Alati | Esineb 2 haiguses |
| NDC1NDC1 transmembrane nucleoporin | Alati | Esineb 1 haiguses |
| NONOnon-POU domain containing octamer binding | Alati | Esineb 2 haiguses |
| NOTCH3notch receptor 3 | Alati | Esineb 1 haiguses |
| PABPN1poly(A) binding protein nuclear 1 | Alati | Esineb 1 haiguses |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Alati | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 2 haiguses |
| SLC18A2solute carrier family 18 member A2 | Alati | Esineb 2 haiguses |
| TUBB6tubulin beta 6 class V | Alati | Esineb 1 haiguses |
| UNC45Bunc-45 myosin chaperone B | Alati | Esineb 1 haiguses |
| ZBTB18zinc finger and BTB domain containing 18 | Alati | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CAMKMTcalmodulin-lysine N-methyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Väga sageli (80–99%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PCNTpericentrin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| PREPLprolyl endopeptidase like | Väga sageli (80–99%) | Esineb 2 haiguses |
| RREB1ras responsive element binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC3A1solute carrier family 3 member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBX1T-box transcription factor 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZDHHC9zDHHC palmitoyltransferase 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AAASaladin WD repeat nucleoporin | Sageli (30–79%) | Esineb 1 haiguses |
| BAG3BAG cochaperone 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CAMTA1calmodulin binding transcription activator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CNOT2CCR4-NOT transcription complex subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COL9A1collagen type IX alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| GMPPAGDP-mannose pyrophosphorylase A | Sageli (30–79%) | Esineb 2 haiguses |
| GRHL3grainyhead like transcription factor 3 | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 70 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Sageli (30–79%) | Esineb 1 haiguses |
| IRF6interferon regulatory factor 6 | Sageli (30–79%) | Esineb 2 haiguses |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Sageli (30–79%) | Esineb 1 haiguses |
| MATR3matrin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MGME1mitochondrial genome maintenance exonuclease 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MKRN3makorin ring finger protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MSX1msh homeobox 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MYH3myosin heavy chain 3 | Sageli (30–79%) | Esineb 2 haiguses |
| MYMXmyomixer, myoblast fusion factor | Sageli (30–79%) | Esineb 1 haiguses |
| MYOTmyotilin | Sageli (30–79%) | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Sageli (30–79%) | Esineb 1 haiguses |
| NECTIN1nectin cell adhesion molecule 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NPAP1nuclear pore associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PWAR1Prader Willi/Angelman region RNA 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RILPL1Rab interacting lysosomal protein like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Sageli (30–79%) | Esineb 1 haiguses |
| SMSspermine synthase | Sageli (30–79%) | Esineb 2 haiguses |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Sageli (30–79%) | Esineb 1 haiguses |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Sageli (30–79%) | Esineb 1 haiguses |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Sageli (30–79%) | Esineb 2 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Sageli (30–79%) | Esineb 2 haiguses |
| TP63tumor protein p63 | Sageli (30–79%) | Esineb 2 haiguses |
| TRAPPC11trafficking protein particle complex subunit 11 | Sageli (30–79%) | Esineb 1 haiguses |
| UBBubiquitin B | Sageli (30–79%) | Esineb 2 haiguses |
| ARHGAP29Rho GTPase activating protein 29 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARHGEF38Rho guanine nucleotide exchange factor 38 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATG7autophagy related 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCL11ABCL11 transcription factor A | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMP4bone morphogenetic protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CADM3cell adhesion molecule 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDH1cadherin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COBLL1cordon-bleu WH2 repeat protein like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLG1discs large MAGUK scaffold protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLX4distal-less homeobox 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXP2forkhead box P2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| MUSKmuscle associated receptor tyrosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYPNmyopalladin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDGFRAplatelet derived growth factor receptor alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLECplectin | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| RELREL proto-oncogene, NF-kB subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| RIC1RIC1 partner of RAB6A GEF complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETSET nuclear proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRPX2sushi repeat containing protein X-linked 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYT2synaptotagmin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM3tropomyosin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPO1exportin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AMER1APC membrane recruitment protein 1 | Pole registreeritud | Esineb 1 haiguses |
| CRLF1cytokine receptor like factor 1 | Pole registreeritud | Esineb 1 haiguses |
| DGCR2DiGeorge syndrome critical region gene 2 | Pole registreeritud | Esineb 1 haiguses |
| DGCR6DiGeorge syndrome critical region gene 6 | Pole registreeritud | Esineb 1 haiguses |
| DGCR8DGCR8 microprocessor complex subunit | Pole registreeritud | Esineb 1 haiguses |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Pole registreeritud | Esineb 1 haiguses |
| ESS2ess-2 spliceosome associated protein | Pole registreeritud | Esineb 1 haiguses |
| LIFRLIF receptor subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| LRP12LDL receptor related protein 12 | Pole registreeritud | Esineb 1 haiguses |
| MGPmatrix Gla protein | Pole registreeritud | Esineb 1 haiguses |
| PHF8PHD finger protein 8 | Pole registreeritud | Esineb 1 haiguses |
| PQBP1polyglutamine binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| SELENONselenoprotein N | Pole registreeritud | Esineb 1 haiguses |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast