AtlasTunnus
Cleft soft palate
Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.
Kokkuvõte
- Teised nimetused
- Cleft muscular palate, Cleft of soft palate, Cleft velum
- Kehasüsteem
- Abnormality of head or neck
AtlasSelle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/cleft-soft-palate.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Cleft soft palate-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test22 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Diamond-Blackfan AnemiaReads 14 of these genesGATA1HEATR3RPL11RPL15RPL26RPL35AAbout this report →
- Deficiency of Adenosine Deaminase 2 (DADA2)Reads 1 of these genesADA2About this report →
- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)Reads 1 of these genesSF3B4About this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesMSX2About this report →
Show 18 more reports
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL2A1About this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 1 of these genesGRHL3About this report →
- Achondrogenesis panelReads 1 of these genesCOL2A1About this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC25A19About this report →
- Treacher Collins SyndromeReads 1 of these genesTCOF1About this report →
- Hereditary Orofacial CleftingReads 1 of these genesGRHL3About this report →
- Loeys-Dietz SyndromeReads 1 of these genesTGFB3About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesCOL2A1About this report →
- Marfan Like SyndromesReads 1 of these genesTGFB3About this report →
- Coffin-Siris SyndromeReads 1 of these genesSMARCD1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesTBX5About this report →
- Ehlers-Danlos SyndromeReads 1 of these genesFKBP14About this report →
- Syndromic CraniosynostosisReads 1 of these genesMSX2About this report →
- Intellectual DisabilityReads 3 of these genesTAF4MED12DYRK1AAbout this report →
- VitreoretinopathyReads 1 of these genesCOL2A1About this report →
- Inherited ThrombocytopeniasReads 1 of these genesGATA1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesADA2About this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesSLC25A19About this report →
Lugege välja geenid, mis on seotud Cleft soft palate-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test51 geeni on seotud tunnusega Cleft soft palate
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Cleft soft palate. 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 |
|---|---|---|
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| TAF4TATA-box binding protein associated factor 4 | Alati | Esineb 1 haiguses |
| TBX5T-box transcription factor 5 | Alati | Esineb 1 haiguses |
| TGFB3transforming growth factor beta 3 | Alati | Esineb 1 haiguses |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| GRHL3grainyhead like transcription factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NXNnucleoredoxin | Sageli (30–79%) | Esineb 1 haiguses |
| UBBubiquitin B | Sageli (30–79%) | Esineb 1 haiguses |
| ADA2adenosine deaminase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDX59DEAD-box helicase 59 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKBP14FKBP prolyl isomerase 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATA1GATA binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEATR3HEAT repeat containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IPO8importin 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSX2msh homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL11ribosomal protein L11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL15ribosomal protein L15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL18ribosomal protein L18 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL26ribosomal protein L26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL27ribosomal protein L27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL31ribosomal protein L31 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL35ribosomal protein L35 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL35Aribosomal protein L35a | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL5ribosomal protein L5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL8ribosomal protein L8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL9ribosomal protein L9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS10ribosomal protein S10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS15Aribosomal protein S15a | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS17ribosomal protein S17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS19ribosomal protein S19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS20ribosomal protein S20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS24ribosomal protein S24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS26ribosomal protein S26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS27ribosomal protein S27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS28ribosomal protein S28 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 11 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| RPS29ribosomal protein S29 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS7ribosomal protein S7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCNM1sodium channel modifier 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SF3B4splicing factor 3b subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A19solute carrier family 25 member 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSR2TSR2 ribosome maturation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZPR1ZPR1 zinc finger | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Harva (1–4%) | Esineb 1 haiguses |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Pole registreeritud | Esineb 1 haiguses |
| TCOF1treacle ribosome biogenesis factor 1 | 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.
Kitsamad tunnused
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 2026.10.19-9814e911.
AtlasFrom traits to your genome
Read the genes behind these traits in your own DNA.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
