Požymis
Cleft of the mouth
Klinikinis pavadinimas: Orofacial cleft
The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Santrauka
- Taip pat vadinama
- Oral cleft, Oral clefting
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test135 genų susiję su Cleft of the mouth
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Cleft of the mouth. 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 |
|---|---|---|
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Visada | 1 ligoje |
| ACTBactin beta | Labai dažnai (80–99%) | 2 ligose |
| MED12mediator complex subunit 12 | Labai dažnai (80–99%) | 1 ligoje |
| PHF8PHD finger protein 8 | Labai dažnai (80–99%) | 1 ligoje |
| PTCH1patched 1 | Labai dažnai (80–99%) | 3 ligose |
| RSPO2R-spondin 2 | Labai dažnai (80–99%) | 1 ligoje |
| TBX4T-box transcription factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| TCTN3tectonic family member 3 | Labai dažnai (80–99%) | 2 ligose |
| WNT3Wnt family member 3 | Labai dažnai (80–99%) | 1 ligoje |
| ARHGAP29Rho GTPase activating protein 29 | Dažnai (30–79%) | 1 ligoje |
| ARHGEF38Rho guanine nucleotide exchange factor 38 | Dažnai (30–79%) | 1 ligoje |
| BCORBCL6 corepressor | Dažnai (30–79%) | 2 ligose |
| BMP4bone morphogenetic protein 4 | Dažnai (30–79%) | 1 ligoje |
| CDH1cadherin 1 | Dažnai (30–79%) | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Dažnai (30–79%) | 1 ligoje |
| COBLL1cordon-bleu WH2 repeat protein like 1 | Dažnai (30–79%) | 1 ligoje |
| COLEC10collectin subfamily member 10 | Dažnai (30–79%) | 1 ligoje |
| COLEC11collectin subfamily member 11 | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| DLG1discs large MAGUK scaffold protein 1 | Dažnai (30–79%) | 1 ligoje |
| DLX4distal-less homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| EFNB1ephrin B1 | Dažnai (30–79%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| FGFRL1fibroblast growth factor receptor like 1 | Dažnai (30–79%) | 1 ligoje |
| IPO8importin 8 | Dažnai (30–79%) | 1 ligoje |
| IRF6interferon regulatory factor 6 | Dažnai (30–79%) | 2 ligose |
| KDM6Alysine demethylase 6A | Dažnai (30–79%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Dažnai (30–79%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| MASP1MBL associated serine protease 1 | Dažnai (30–79%) | 1 ligoje |
| MSX1msh homeobox 1 | Dažnai (30–79%) | 2 ligose |
| MYH3myosin heavy chain 3 | Dažnai (30–79%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Dažnai (30–79%) | 2 ligose |
| NECTIN1nectin cell adhesion molecule 1 | Dažnai (30–79%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Dažnai (30–79%) | 1 ligoje |
| NUP188nucleoporin 188 | Dažnai (30–79%) | 1 ligoje |
| PDGFRAplatelet derived growth factor receptor alpha | Dažnai (30–79%) | 1 ligoje |
| RIC1RIC1 partner of RAB6A GEF complex | Dažnai (30–79%) | 1 ligoje |
| SMAD2SMAD family member 2 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 95 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SMAD3SMAD family member 3 | Dažnai (30–79%) | 1 ligoje |
| TGFB2transforming growth factor beta 2 | Dažnai (30–79%) | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Dažnai (30–79%) | 1 ligoje |
| TGFBR1transforming growth factor beta receptor 1 | Dažnai (30–79%) | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Dažnai (30–79%) | 1 ligoje |
| TP63tumor protein p63 | Dažnai (30–79%) | 3 ligose |
| WNT4Wnt family member 4 | Dažnai (30–79%) | 1 ligoje |
| ACTG1actin gamma 1 | Kartais (5–29%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Kartais (5–29%) | 2 ligose |
| ARL13BARF like GTPase 13B | Kartais (5–29%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Kartais (5–29%) | 1 ligoje |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Kartais (5–29%) | 1 ligoje |
| ARMC9armadillo repeat containing 9 | Kartais (5–29%) | 1 ligoje |
| B9D1B9 domain containing 1 | Kartais (5–29%) | 1 ligoje |
| B9D2B9 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| CBY1chibby 1, beta catenin antagonist | Kartais (5–29%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Kartais (5–29%) | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Kartais (5–29%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Kartais (5–29%) | 1 ligoje |
| CEP104centrosomal protein 104 | Kartais (5–29%) | 1 ligoje |
| CEP120centrosomal protein 120 | Kartais (5–29%) | 2 ligose |
| CEP41centrosomal protein 41 | Kartais (5–29%) | 2 ligose |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| CRIPTOcripto, EGF-CFC family member | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Kartais (5–29%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Kartais (5–29%) | 1 ligoje |
| DLL1delta like canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| EDAectodysplasin A | Kartais (5–29%) | 1 ligoje |
| EDARADDEDAR associated via death domain | Kartais (5–29%) | 1 ligoje |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Kartais (5–29%) | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 2 ligose |
| FOXH1forkhead box H1 | Kartais (5–29%) | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| FREM2FRAS1 related extracellular matrix 2 | Kartais (5–29%) | 1 ligoje |
| FUZfuzzy planar cell polarity protein | Kartais (5–29%) | 1 ligoje |
| GAS1growth arrest specific 1 | Kartais (5–29%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| GNA11G protein subunit alpha 11 | Kartais (5–29%) | 1 ligoje |
| GREM2gremlin 2, DAN family BMP antagonist | Kartais (5–29%) | 1 ligoje |
| GRIP1glutamate receptor interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Kartais (5–29%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Kartais (5–29%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Kartais (5–29%) | 1 ligoje |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Kartais (5–29%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Kartais (5–29%) | 3 ligose |
| KATNIPkatanin interacting protein | Kartais (5–29%) | 1 ligoje |
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| KIAA0753KIAA0753 | Kartais (5–29%) | 1 ligoje |
| LRP6LDL receptor related protein 6 | Kartais (5–29%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 2 ligose |
| NODALnodal growth differentiation factor | Kartais (5–29%) | 1 ligoje |
| NPHP1nephrocystin 1 | Kartais (5–29%) | 1 ligoje |
| NXNnucleoredoxin | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| PAX9paired box 9 | Kartais (5–29%) | 1 ligoje |
| PDE6Dphosphodiesterase 6D | Kartais (5–29%) | 1 ligoje |
| PHF6PHD finger protein 6 | Kartais (5–29%) | 1 ligoje |
| PIBF1progesterone immunomodulatory binding factor 1 | Kartais (5–29%) | 1 ligoje |
| PTCH2patched 2 | Kartais (5–29%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Kartais (5–29%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Kartais (5–29%) | 2 ligose |
| RPGRIP1LRPGRIP1 like | Kartais (5–29%) | 2 ligose |
| SHHsonic hedgehog signaling molecule | Kartais (5–29%) | 2 ligose |
| SIX3SIX homeobox 3 | Kartais (5–29%) | 1 ligoje |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Kartais (5–29%) | 1 ligoje |
| STAG1STAG1 cohesin complex component | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 3 ligose |
| SUMO1small ubiquitin like modifier 1 | Kartais (5–29%) | 1 ligoje |
| TCTN1tectonic family member 1 | Kartais (5–29%) | 1 ligoje |
| TCTN2tectonic family member 2 | Kartais (5–29%) | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Kartais (5–29%) | 1 ligoje |
| TGFAtransforming growth factor alpha | Kartais (5–29%) | 1 ligoje |
| TGIF1TGFB induced factor homeobox 1 | Kartais (5–29%) | 1 ligoje |
| TMEM218transmembrane protein 218 | Kartais (5–29%) | 1 ligoje |
| TMEM237transmembrane protein 237 | Kartais (5–29%) | 2 ligose |
| TMEM67transmembrane protein 67 | Kartais (5–29%) | 2 ligose |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Kartais (5–29%) | 1 ligoje |
| VANGL1VANGL planar cell polarity protein 1 | Kartais (5–29%) | 1 ligoje |
| VPS35LVPS35 endosomal protein sorting factor like | Kartais (5–29%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Kartais (5–29%) | 1 ligoje |
| WNT10AWnt family member 10A | Kartais (5–29%) | 1 ligoje |
| WNT10BWnt family member 10B | Kartais (5–29%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Kartais (5–29%) | 2 ligose |
| EPCAMepithelial cell adhesion molecule | Retai (1–4 %) | 1 ligoje |
| FGF10fibroblast growth factor 10 | Retai (1–4 %) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Retai (1–4 %) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Retai (1–4 %) | 1 ligoje |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Retai (1–4 %) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Neužfiksuota | 1 ligoje |
| PAX3paired box 3 | Neužfiksuota | 1 ligoje |
| WNT5AWnt family member 5A | 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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