Požymis
Pointed chin
A marked tapering of the lower face to the chin.
Santrauka
- Taip pat vadinama
- Pointy chin, Small pointed chin, Witch's chin, Pointed mention region
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Pointed chin, and the rest of your genome, with one test.
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Įsigyti savo Genome Test150 genų susiję su Pointed chin
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Pointed chin. 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 |
|---|---|---|
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Visada | 1 ligoje |
| CDH11cadherin 11 | Visada | 2 ligose |
| CHD8chromodomain helicase DNA binding protein 8 | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Visada | 2 ligose |
| PORCNporcupine O-acyltransferase | Visada | 2 ligose |
| SLC37A4solute carrier family 37 member 4 | Visada | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Visada | 2 ligose |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Visada | 2 ligose |
| TBC1D7TBC1 domain family member 7 | Visada | 2 ligose |
| TLK2tousled like kinase 2 | Visada | 1 ligoje |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| TMEM94transmembrane protein 94 | Visada | 1 ligoje |
| ACTBactin beta | Labai dažnai (80–99%) | 3 ligose |
| ACTG1actin gamma 1 | Labai dažnai (80–99%) | 2 ligose |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Labai dažnai (80–99%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Labai dažnai (80–99%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Labai dažnai (80–99%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Labai dažnai (80–99%) | 1 ligoje |
| ELNelastin | Labai dažnai (80–99%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Labai dažnai (80–99%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Labai dažnai (80–99%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Labai dažnai (80–99%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| METTL27methyltransferase like 27 | Labai dažnai (80–99%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Labai dažnai (80–99%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 110 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PDPNpodoplanin | Labai dažnai (80–99%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Labai dažnai (80–99%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Labai dažnai (80–99%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Labai dažnai (80–99%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| SPENspen family transcriptional repressor | Labai dažnai (80–99%) | 2 ligose |
| STX1Asyntaxin 1A | Labai dažnai (80–99%) | 1 ligoje |
| TBL2transducin beta like 2 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Labai dažnai (80–99%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Labai dažnai (80–99%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Labai dažnai (80–99%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Dažnai (30–79%) | 2 ligose |
| BCRBCR activator of RhoGEF and GTPase | Dažnai (30–79%) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Dažnai (30–79%) | 2 ligose |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Dažnai (30–79%) | 2 ligose |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| CHD1chromodomain helicase DNA binding protein 1 | Dažnai (30–79%) | 2 ligose |
| CHRNGcholinergic receptor nicotinic gamma subunit | Dažnai (30–79%) | 1 ligoje |
| CRKLCRK like proto-oncogene, adaptor protein | Dažnai (30–79%) | 1 ligoje |
| CUL7cullin 7 | Dažnai (30–79%) | 2 ligose |
| DNM1Ldynamin 1L | Dažnai (30–79%) | 1 ligoje |
| DOCK3dedicator of cytokinesis 3 | Dažnai (30–79%) | 1 ligoje |
| FGF3fibroblast growth factor 3 | Dažnai (30–79%) | 1 ligoje |
| FRA10AC1FRA10A associated CGG repeat 1 | Dažnai (30–79%) | 1 ligoje |
| GON4Lgon-4 like | Dažnai (30–79%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 1 ligoje |
| KDM3Blysine demethylase 3B | Dažnai (30–79%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Dažnai (30–79%) | 2 ligose |
| MAPK1mitogen-activated protein kinase 1 | Dažnai (30–79%) | 2 ligose |
| MEIS2Meis homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Dažnai (30–79%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Dažnai (30–79%) | 1 ligoje |
| PDCD6IPprogrammed cell death 6 interacting protein | Dažnai (30–79%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Dažnai (30–79%) | 1 ligoje |
| PGM2L1phosphoglucomutase 2 like 1 | Dažnai (30–79%) | 1 ligoje |
| PLK4polo like kinase 4 | Dažnai (30–79%) | 1 ligoje |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 2 ligose |
| POU4F1POU class 4 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PRKG2protein kinase cGMP-dependent 2 | Dažnai (30–79%) | 1 ligoje |
| PUM1pumilio RNA binding family member 1 | Dažnai (30–79%) | 1 ligoje |
| PUS7pseudouridine synthase 7 | Dažnai (30–79%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Dažnai (30–79%) | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| SETD2SET domain containing 2, histone lysine methyltransferase | Dažnai (30–79%) | 2 ligose |
| SIN3ASIN3 transcription regulator family member A | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 2 ligose |
| TUBGCP4tubulin gamma complex component 4 | Dažnai (30–79%) | 1 ligoje |
| TUBGCP6tubulin gamma complex component 6 | Dažnai (30–79%) | 1 ligoje |
| YY1YY1 transcription factor | Dažnai (30–79%) | 2 ligose |
| ZEB2zinc finger E-box binding homeobox 2 | Dažnai (30–79%) | 3 ligose |
| ZFXzinc finger protein X-linked | Dažnai (30–79%) | 1 ligoje |
| ZNF148zinc finger protein 148 | Dažnai (30–79%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Kartais (5–29%) | 1 ligoje |
| CBFBcore-binding factor subunit beta | Kartais (5–29%) | 1 ligoje |
| CDH2cadherin 2 | Kartais (5–29%) | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Kartais (5–29%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| DHX37DEAH-box helicase 37 | Kartais (5–29%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FEM1Bfem-1 homolog B | Kartais (5–29%) | 1 ligoje |
| FN1fibronectin 1 | Kartais (5–29%) | 1 ligoje |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| INSRinsulin receptor | Kartais (5–29%) | 1 ligoje |
| JARID2jumonji and AT-rich interaction domain containing 2 | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 1 ligoje |
| KIFBPkinesin family binding protein | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MED12Lmediator complex subunit 12L | Kartais (5–29%) | 1 ligoje |
| MESDmesoderm development LRP chaperone | Kartais (5–29%) | 1 ligoje |
| NAV3neuron navigator 3 | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| NGLY1N-glycanase 1 | Kartais (5–29%) | 1 ligoje |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Kartais (5–29%) | 1 ligoje |
| OTUD5OTU deubiquitinase 5 | Kartais (5–29%) | 1 ligoje |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Kartais (5–29%) | 1 ligoje |
| SETSET nuclear proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Kartais (5–29%) | 1 ligoje |
| SNX14sorting nexin 14 | Kartais (5–29%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| THOC6THO complex subunit 6 | Kartais (5–29%) | 1 ligoje |
| TRIP12thyroid hormone receptor interactor 12 | Kartais (5–29%) | 1 ligoje |
| TTC5tetratricopeptide repeat domain 5 | Kartais (5–29%) | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| ZNF292zinc finger protein 292 | Kartais (5–29%) | 1 ligoje |
| ZNF526zinc finger protein 526 | Kartais (5–29%) | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Retai (1–4 %) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Neužfiksuota | 1 ligoje |
| NOTCH2notch receptor 2 | Neužfiksuota | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Neužfiksuota | 1 ligoje |
| POC1APOC1 centriolar protein A | Neužfiksuota | 1 ligoje |
| RALARAS like proto-oncogene A | 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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