Kenmerk
Cleft of the mouth
Klinische naam: 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.
Samenvatting
- Ook bekend als
- Oral cleft, Oral clefting
- Lichaamssysteem
- Abnormality of head or neck
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Cleft of the mouth voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Altijd | In 1 aandoening |
| ACTBactin beta | Heel vaak (80–99%) | In 2 aandoeningen |
| MED12mediator complex subunit 12 | Heel vaak (80–99%) | In 1 aandoening |
| PHF8PHD finger protein 8 | Heel vaak (80–99%) | In 1 aandoening |
| PTCH1patched 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| RSPO2R-spondin 2 | Heel vaak (80–99%) | In 1 aandoening |
| TBX4T-box transcription factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| WNT3Wnt family member 3 | Heel vaak (80–99%) | In 1 aandoening |
| ARHGAP29Rho GTPase activating protein 29 | Vaak (30–79%) | In 1 aandoening |
| ARHGEF38Rho guanine nucleotide exchange factor 38 | Vaak (30–79%) | In 1 aandoening |
| BCORBCL6 corepressor | Vaak (30–79%) | In 2 aandoeningen |
| BMP4bone morphogenetic protein 4 | Vaak (30–79%) | In 1 aandoening |
| CDH1cadherin 1 | Vaak (30–79%) | In 1 aandoening |
| CHRNGcholinergic receptor nicotinic gamma subunit | Vaak (30–79%) | In 1 aandoening |
| COBLL1cordon-bleu WH2 repeat protein like 1 | Vaak (30–79%) | In 1 aandoening |
| COLEC10collectin subfamily member 10 | Vaak (30–79%) | In 1 aandoening |
| COLEC11collectin subfamily member 11 | Vaak (30–79%) | In 1 aandoening |
| CPLX1complexin 1 | Vaak (30–79%) | In 1 aandoening |
| CTBP1C-terminal binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| DLG1discs large MAGUK scaffold protein 1 | Vaak (30–79%) | In 1 aandoening |
| DLX4distal-less homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| EFNB1ephrin B1 | Vaak (30–79%) | In 1 aandoening |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| FGFRL1fibroblast growth factor receptor like 1 | Vaak (30–79%) | In 1 aandoening |
| IPO8importin 8 | Vaak (30–79%) | In 1 aandoening |
| IRF6interferon regulatory factor 6 | Vaak (30–79%) | In 2 aandoeningen |
| KDM6Alysine demethylase 6A | Vaak (30–79%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Vaak (30–79%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| MASP1MBL associated serine protease 1 | Vaak (30–79%) | In 1 aandoening |
| MSX1msh homeobox 1 | Vaak (30–79%) | In 2 aandoeningen |
| MYH3myosin heavy chain 3 | Vaak (30–79%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Vaak (30–79%) | In 2 aandoeningen |
| NECTIN1nectin cell adhesion molecule 1 | Vaak (30–79%) | In 1 aandoening |
| NSD2nuclear receptor binding SET domain protein 2 | Vaak (30–79%) | In 1 aandoening |
| NUP188nucleoporin 188 | Vaak (30–79%) | In 1 aandoening |
| PDGFRAplatelet derived growth factor receptor alpha | Vaak (30–79%) | In 1 aandoening |
| RIC1RIC1 partner of RAB6A GEF complex | Vaak (30–79%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Vaak (30–79%) | In 1 aandoening |
Toon nog 95 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| SMAD3SMAD family member 3 | Vaak (30–79%) | In 1 aandoening |
| TGFB2transforming growth factor beta 2 | Vaak (30–79%) | In 1 aandoening |
| TGFB3transforming growth factor beta 3 | Vaak (30–79%) | In 1 aandoening |
| TGFBR1transforming growth factor beta receptor 1 | Vaak (30–79%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Vaak (30–79%) | In 1 aandoening |
| TP63tumor protein p63 | Vaak (30–79%) | In 3 aandoeningen |
| WNT4Wnt family member 4 | Vaak (30–79%) | In 1 aandoening |
| ACTG1actin gamma 1 | Soms (5–29%) | In 1 aandoening |
| AHI1Abelson helper integration site 1 | Soms (5–29%) | In 2 aandoeningen |
| ARL13BARF like GTPase 13B | Soms (5–29%) | In 1 aandoening |
| ARL3ARF like GTPase 3 | Soms (5–29%) | In 1 aandoening |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Soms (5–29%) | In 1 aandoening |
| ARMC9armadillo repeat containing 9 | Soms (5–29%) | In 1 aandoening |
| B9D1B9 domain containing 1 | Soms (5–29%) | In 1 aandoening |
| B9D2B9 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| CBY1chibby 1, beta catenin antagonist | Soms (5–29%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Soms (5–29%) | In 1 aandoening |
| CCDC22CCC complex scaffolding subunit CCDC22 | Soms (5–29%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Soms (5–29%) | In 1 aandoening |
| CEP104centrosomal protein 104 | Soms (5–29%) | In 1 aandoening |
| CEP120centrosomal protein 120 | Soms (5–29%) | In 2 aandoeningen |
| CEP41centrosomal protein 41 | Soms (5–29%) | In 2 aandoeningen |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| CRIPTOcripto, EGF-CFC family member | Soms (5–29%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Soms (5–29%) | In 1 aandoening |
| DDX3XDEAD-box helicase 3 X-linked | Soms (5–29%) | In 1 aandoening |
| DISP1dispatched RND transporter family member 1 | Soms (5–29%) | In 1 aandoening |
| DLL1delta like canonical Notch ligand 1 | Soms (5–29%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Soms (5–29%) | In 1 aandoening |
| EDAectodysplasin A | Soms (5–29%) | In 1 aandoening |
| EDARADDEDAR associated via death domain | Soms (5–29%) | In 1 aandoening |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Soms (5–29%) | In 1 aandoening |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Soms (5–29%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Soms (5–29%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Soms (5–29%) | In 2 aandoeningen |
| FOXH1forkhead box H1 | Soms (5–29%) | In 1 aandoening |
| FRAS1Fraser extracellular matrix complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| FREM2FRAS1 related extracellular matrix 2 | Soms (5–29%) | In 1 aandoening |
| FUZfuzzy planar cell polarity protein | Soms (5–29%) | In 1 aandoening |
| GAS1growth arrest specific 1 | Soms (5–29%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| GNA11G protein subunit alpha 11 | Soms (5–29%) | In 1 aandoening |
| GREM2gremlin 2, DAN family BMP antagonist | Soms (5–29%) | In 1 aandoening |
| GRIP1glutamate receptor interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Soms (5–29%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Soms (5–29%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Soms (5–29%) | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Soms (5–29%) | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Soms (5–29%) | In 3 aandoeningen |
| KATNIPkatanin interacting protein | Soms (5–29%) | In 1 aandoening |
| KIAA0586KIAA0586 | Soms (5–29%) | In 1 aandoening |
| KIAA0753KIAA0753 | Soms (5–29%) | In 1 aandoening |
| LRP6LDL receptor related protein 6 | Soms (5–29%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| NODALnodal growth differentiation factor | Soms (5–29%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Soms (5–29%) | In 1 aandoening |
| NXNnucleoredoxin | Soms (5–29%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Soms (5–29%) | In 1 aandoening |
| PAX9paired box 9 | Soms (5–29%) | In 1 aandoening |
| PDE6Dphosphodiesterase 6D | Soms (5–29%) | In 1 aandoening |
| PHF6PHD finger protein 6 | Soms (5–29%) | In 1 aandoening |
| PIBF1progesterone immunomodulatory binding factor 1 | Soms (5–29%) | In 1 aandoening |
| PTCH2patched 2 | Soms (5–29%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Soms (5–29%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Soms (5–29%) | In 2 aandoeningen |
| RPGRIP1LRPGRIP1 like | Soms (5–29%) | In 2 aandoeningen |
| SHHsonic hedgehog signaling molecule | Soms (5–29%) | In 2 aandoeningen |
| SIX3SIX homeobox 3 | Soms (5–29%) | In 1 aandoening |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Soms (5–29%) | In 1 aandoening |
| STAG1STAG1 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Soms (5–29%) | In 3 aandoeningen |
| SUMO1small ubiquitin like modifier 1 | Soms (5–29%) | In 1 aandoening |
| TCTN1tectonic family member 1 | Soms (5–29%) | In 1 aandoening |
| TCTN2tectonic family member 2 | Soms (5–29%) | In 1 aandoening |
| TFAP2Atranscription factor AP-2 alpha | Soms (5–29%) | In 1 aandoening |
| TGFAtransforming growth factor alpha | Soms (5–29%) | In 1 aandoening |
| TGIF1TGFB induced factor homeobox 1 | Soms (5–29%) | In 1 aandoening |
| TMEM218transmembrane protein 218 | Soms (5–29%) | In 1 aandoening |
| TMEM237transmembrane protein 237 | Soms (5–29%) | In 2 aandoeningen |
| TMEM67transmembrane protein 67 | Soms (5–29%) | In 2 aandoeningen |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Soms (5–29%) | In 1 aandoening |
| VANGL1VANGL planar cell polarity protein 1 | Soms (5–29%) | In 1 aandoening |
| VPS35LVPS35 endosomal protein sorting factor like | Soms (5–29%) | In 1 aandoening |
| WASHC5WASH complex subunit 5 | Soms (5–29%) | In 1 aandoening |
| WNT10AWnt family member 10A | Soms (5–29%) | In 1 aandoening |
| WNT10BWnt family member 10B | Soms (5–29%) | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Soms (5–29%) | In 2 aandoeningen |
| EPCAMepithelial cell adhesion molecule | Zelden (1–4%) | In 1 aandoening |
| FGF10fibroblast growth factor 10 | Zelden (1–4%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Zelden (1–4%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Zelden (1–4%) | In 1 aandoening |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Zelden (1–4%) | In 1 aandoening |
| DVL1dishevelled segment polarity protein 1 | Niet vastgelegd | In 1 aandoening |
| PAX3paired box 3 | Niet vastgelegd | In 1 aandoening |
| WNT5AWnt family member 5A | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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