Požymis
Failure of development of more than six teeth
Klinikinis pavadinimas: Oligodontia
The absence of six or more teeth from the normal series by a failure to develop.
Santrauka
- Taip pat vadinama
- Missing more than six teeth, Number of teeth decreased by more than six, Partial anodontia
- 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 Test70 genų susiję su Failure of development of more than six teeth
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Failure of development of more than six teeth. 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 |
|---|---|---|
| AXIN2axin 2 | Visada | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Visada | 2 ligose |
| EDAectodysplasin A | Visada | 2 ligose |
| EDARectodysplasin A receptor | Visada | 1 ligoje |
| EDARADDEDAR associated via death domain | Visada | 3 ligose |
| FGFR1fibroblast growth factor receptor 1 | Visada | 1 ligoje |
| GREM2gremlin 2, DAN family BMP antagonist | Visada | 1 ligoje |
| IRF6interferon regulatory factor 6 | Visada | 1 ligoje |
| KDM6Alysine demethylase 6A | Visada | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Visada | 1 ligoje |
| KREMEN1kringle containing transmembrane protein 1 | Visada | 1 ligoje |
| LRP6LDL receptor related protein 6 | Visada | 1 ligoje |
| LTBP3latent transforming growth factor beta binding protein 3 | Visada | 1 ligoje |
| MSX1msh homeobox 1 | Visada | 1 ligoje |
| PAX9paired box 9 | Visada | 2 ligose |
| PITX2paired like homeodomain 2 | Visada | 1 ligoje |
| POLR3GLRNA polymerase III subunit GL | Visada | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Visada | 1 ligoje |
| SMOC2SPARC related modular calcium binding 2 | Visada | 1 ligoje |
| SUMO1small ubiquitin like modifier 1 | Visada | 1 ligoje |
| TGFAtransforming growth factor alpha | Visada | 1 ligoje |
| TSPEARthrombospondin type laminin G domain and EAR repeats | Visada | 1 ligoje |
| WNT10AWnt family member 10A | Visada | 1 ligoje |
| WNT10BWnt family member 10B | Visada | 1 ligoje |
| FLNAfilamin A | Labai dažnai (80–99%) | 3 ligose |
| SLC25A24solute carrier family 25 member 24 | Labai dažnai (80–99%) | 2 ligose |
| ANKRD11ankyrin repeat domain 11 | Dažnai (30–79%) | 2 ligose |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Dažnai (30–79%) | 1 ligoje |
| BCL11BBCL11 transcription factor B | Dažnai (30–79%) | 1 ligoje |
| BCORBCL6 corepressor | Dažnai (30–79%) | 2 ligose |
| CLDN1claudin 1 | Dažnai (30–79%) | 2 ligose |
| LEF1lymphoid enhancer binding factor 1 | Dažnai (30–79%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Dažnai (30–79%) | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Dažnai (30–79%) | 2 ligose |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 2 ligose |
| POLR3BRNA polymerase III subunit B | Dažnai (30–79%) | 2 ligose |
| RMP64ribonuclease MRP subunit p64 | Dažnai (30–79%) | 1 ligoje |
| SH3BP2SH3 domain binding protein 2 | Dažnai (30–79%) | 2 ligose |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Dažnai (30–79%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
Rodyti dar 30 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CEP152centrosomal protein 152 | Kartais (5–29%) | 1 ligoje |
| CHSY1chondroitin sulfate synthase 1 | Kartais (5–29%) | 1 ligoje |
| CUX1cut like homeobox 1 | Kartais (5–29%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Kartais (5–29%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Kartais (5–29%) | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Kartais (5–29%) | 1 ligoje |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Kartais (5–29%) | 1 ligoje |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Kartais (5–29%) | 2 ligose |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Kartais (5–29%) | 1 ligoje |
| KIFBPkinesin family binding protein | Kartais (5–29%) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Kartais (5–29%) | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 2 ligose |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Kartais (5–29%) | 1 ligoje |
| PTHLHparathyroid hormone like hormone | Kartais (5–29%) | 1 ligoje |
| PUM1pumilio RNA binding family member 1 | Kartais (5–29%) | 1 ligoje |
| RHOAras homolog family member A | Kartais (5–29%) | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Kartais (5–29%) | 2 ligose |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 2 ligose |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Kartais (5–29%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| WNT5AWnt family member 5A | Kartais (5–29%) | 1 ligoje |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Kartais (5–29%) | 1 ligoje |
| PORCNporcupine O-acyltransferase | Retai (1–4 %) | 2 ligose |
| CCBE1collagen and calcium binding EGF domains 1 | Neužfiksuota | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Neužfiksuota | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Neužfiksuota | 1 ligoje |
| TP63tumor protein p63 | 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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