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Egenskap
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.
Sammendrag
- Også kalt
- Oral cleft, Oral clefting
- Kroppssystem
- Abnormality of head or neck
Cleft of the mouthHP:0000202
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Read the genes linked to Cleft of the mouth, and the rest of your genome, with one test.
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Få mitt Genome Test135 gener knyttet til Cleft of the mouth
Endringer i disse genene forårsaker sjeldne tilstander der Cleft of the mouth 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 |
|---|---|---|
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Alltid | I 1 tilstand |
| ACTBactin beta | Svært ofte (80–99 %) | I 2 tilstander |
| MED12mediator complex subunit 12 | Svært ofte (80–99 %) | I 1 tilstand |
| PHF8PHD finger protein 8 | Svært ofte (80–99 %) | I 1 tilstand |
| PTCH1patched 1 | Svært ofte (80–99 %) | I 3 tilstander |
| RSPO2R-spondin 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Svært ofte (80–99 %) | I 2 tilstander |
| WNT3Wnt family member 3 | Svært 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| MYH3myosin heavy chain 3 | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 2 tilstander |
| 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 til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| 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 tilstander |
| WNT4Wnt family member 4 | Ofte (30–79 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ARL13BARF like GTPase 13B | Noen ganger (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Noen ganger (5–29 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CBY1chibby 1, beta catenin antagonist | Noen ganger (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Noen ganger (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Noen ganger (5–29 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Noen ganger (5–29 %) | I 2 tilstander |
| CEP41centrosomal protein 41 | Noen ganger (5–29 %) | I 2 tilstander |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Noen ganger (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| EDAectodysplasin A | Noen ganger (5–29 %) | I 1 tilstand |
| EDARADDEDAR associated via death domain | Noen ganger (5–29 %) | I 1 tilstand |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FOXH1forkhead box H1 | Noen ganger (5–29 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FUZfuzzy planar cell polarity protein | Noen ganger (5–29 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GREM2gremlin 2, DAN family BMP antagonist | Noen ganger (5–29 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Noen ganger (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Noen ganger (5–29 %) | I 3 tilstander |
| KATNIPkatanin interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP6LDL receptor related protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NODALnodal growth differentiation factor | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NXNnucleoredoxin | Noen ganger (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Noen ganger (5–29 %) | I 1 tilstand |
| PAX9paired box 9 | Noen ganger (5–29 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Noen ganger (5–29 %) | I 1 tilstand |
| PHF6PHD finger protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTCH2patched 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| RPGRIP1LRPGRIP1 like | Noen ganger (5–29 %) | I 2 tilstander |
| SHHsonic hedgehog signaling molecule | Noen ganger (5–29 %) | I 2 tilstander |
| SIX3SIX homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Noen ganger (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Noen ganger (5–29 %) | I 3 tilstander |
| SUMO1small ubiquitin like modifier 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| TGFAtransforming growth factor alpha | Noen ganger (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM218transmembrane protein 218 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Noen ganger (5–29 %) | I 2 tilstander |
| TMEM67transmembrane protein 67 | Noen ganger (5–29 %) | I 2 tilstander |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VANGL1VANGL planar cell polarity protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Noen ganger (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| WNT10AWnt family member 10A | Noen ganger (5–29 %) | I 1 tilstand |
| WNT10BWnt family member 10B | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Noen ganger (5–29 %) | I 2 tilstander |
| EPCAMepithelial cell adhesion molecule | Sjelden (1–4%) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Sjelden (1–4%) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Sjelden (1–4%) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Sjelden (1–4%) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Sjelden (1–4%) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ikke registrert | I 1 tilstand |
| PAX3paired box 3 | Ikke registrert | I 1 tilstand |
| WNT5AWnt family member 5A | 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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Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker