Træk
Cleft of the mouth
Klinisk navn: 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.
Resumé
- Også kaldet
- Oral cleft, Oral clefting
- Kropssystem
- Abnormality of head or neck
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test135 gener knyttet til Cleft of the mouth
Ændringer i disse gener forårsager sjældne tilstande, hvor Cleft of the mouth ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Altid | I 1 tilstand |
| ACTBactin beta | Meget ofte (80–99 %) | I 2 tilstande |
| MED12mediator complex subunit 12 | Meget ofte (80–99 %) | I 1 tilstand |
| PHF8PHD finger protein 8 | Meget ofte (80–99 %) | I 1 tilstand |
| PTCH1patched 1 | Meget ofte (80–99 %) | I 3 tilstande |
| RSPO2R-spondin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| WNT3Wnt family member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ARHGAP29Rho GTPase activating protein 29 | Ofte (30–79 %) | I 1 tilstand |
| ARHGEF38Rho guanine nucleotide exchange factor 38 | Ofte (30–79 %) | I 1 tilstand |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 2 tilstande |
| BMP4bone morphogenetic protein 4 | Ofte (30–79 %) | I 1 tilstand |
| CDH1cadherin 1 | Ofte (30–79 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 1 tilstand |
| COBLL1cordon-bleu WH2 repeat protein like 1 | Ofte (30–79 %) | I 1 tilstand |
| COLEC10collectin subfamily member 10 | Ofte (30–79 %) | I 1 tilstand |
| COLEC11collectin subfamily member 11 | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DLG1discs large MAGUK scaffold protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DLX4distal-less homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| EFNB1ephrin B1 | Ofte (30–79 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Ofte (30–79 %) | I 2 tilstande |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Ofte (30–79 %) | I 1 tilstand |
| MSX1msh homeobox 1 | Ofte (30–79 %) | I 2 tilstande |
| MYH3myosin heavy chain 3 | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| NECTIN1nectin cell adhesion molecule 1 | Ofte (30–79 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 1 tilstand |
| NUP188nucleoporin 188 | Ofte (30–79 %) | I 1 tilstand |
| PDGFRAplatelet derived growth factor receptor alpha | Ofte (30–79 %) | I 1 tilstand |
| RIC1RIC1 partner of RAB6A GEF complex | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 1 tilstand |
Vis 95 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Ofte (30–79 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| TP63tumor protein p63 | Ofte (30–79 %) | I 3 tilstande |
| WNT4Wnt family member 4 | Ofte (30–79 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ARL13BARF like GTPase 13B | Nogle gange (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CBY1chibby 1, beta catenin antagonist | Nogle gange (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Nogle gange (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Nogle gange (5–29 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Nogle gange (5–29 %) | I 2 tilstande |
| CEP41centrosomal protein 41 | Nogle gange (5–29 %) | I 2 tilstande |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Nogle gange (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| EDAectodysplasin A | Nogle gange (5–29 %) | I 1 tilstand |
| EDARADDEDAR associated via death domain | Nogle gange (5–29 %) | I 1 tilstand |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FOXH1forkhead box H1 | Nogle gange (5–29 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FUZfuzzy planar cell polarity protein | Nogle gange (5–29 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GREM2gremlin 2, DAN family BMP antagonist | Nogle gange (5–29 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Nogle gange (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Nogle gange (5–29 %) | I 3 tilstande |
| KATNIPkatanin interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP6LDL receptor related protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NODALnodal growth differentiation factor | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NXNnucleoredoxin | Nogle gange (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 1 tilstand |
| PAX9paired box 9 | Nogle gange (5–29 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Nogle gange (5–29 %) | I 1 tilstand |
| PHF6PHD finger protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTCH2patched 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| RPGRIP1LRPGRIP1 like | Nogle gange (5–29 %) | I 2 tilstande |
| SHHsonic hedgehog signaling molecule | Nogle gange (5–29 %) | I 2 tilstande |
| SIX3SIX homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Nogle gange (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Nogle gange (5–29 %) | I 3 tilstande |
| SUMO1small ubiquitin like modifier 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| TGFAtransforming growth factor alpha | Nogle gange (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM218transmembrane protein 218 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM67transmembrane protein 67 | Nogle gange (5–29 %) | I 2 tilstande |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VANGL1VANGL planar cell polarity protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Nogle gange (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| WNT10AWnt family member 10A | Nogle gange (5–29 %) | I 1 tilstand |
| WNT10BWnt family member 10B | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Nogle gange (5–29 %) | I 2 tilstande |
| EPCAMepithelial cell adhesion molecule | Sjældent (1–4%) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Sjældent (1–4%) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Sjældent (1–4%) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Sjældent (1–4%) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Sjældent (1–4%) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ikke registreret | I 1 tilstand |
| PAX3paired box 3 | Ikke registreret | I 1 tilstand |
| WNT5AWnt family member 5A | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger