Tunnus
Pointed chin
A marked tapering of the lower face to the chin.
Kokkuvõte
- Teised nimetused
- Pointy chin, Small pointed chin, Witch's chin, Pointed mention region
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Pointed chin, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test150 geeni on seotud tunnusega Pointed chin
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Pointed chin. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Alati | Esineb 1 haiguses |
| CDH11cadherin 11 | Alati | Esineb 2 haiguses |
| CHD8chromodomain helicase DNA binding protein 8 | Alati | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alati | Esineb 1 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Alati | Esineb 2 haiguses |
| PORCNporcupine O-acyltransferase | Alati | Esineb 2 haiguses |
| SLC37A4solute carrier family 37 member 4 | Alati | Esineb 1 haiguses |
| SPOPspeckle type BTB/POZ protein | Alati | Esineb 2 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Alati | Esineb 2 haiguses |
| TBC1D7TBC1 domain family member 7 | Alati | Esineb 2 haiguses |
| TLK2tousled like kinase 2 | Alati | Esineb 1 haiguses |
| TM2D3TM2 domain containing 3 | Alati | Esineb 1 haiguses |
| TMEM94transmembrane protein 94 | Alati | Esineb 1 haiguses |
| ACTBactin beta | Väga sageli (80–99%) | Esineb 3 haiguses |
| ACTG1actin gamma 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| CASZ1castor zinc finger 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELNelastin | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Väga sageli (80–99%) | Esineb 1 haiguses |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LUZP1leucine zipper protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MMP23Bmatrix metallopeptidase 23B | Väga sageli (80–99%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| OBSL1obscurin like cytoskeletal adaptor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 110 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PDPNpodoplanin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRDM16PR/SET domain 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKCZprotein kinase C zeta | Väga sageli (80–99%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Väga sageli (80–99%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Väga sageli (80–99%) | Esineb 2 haiguses |
| STX1Asyntaxin 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UBE4Bubiquitination factor E4B | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Sageli (30–79%) | Esineb 2 haiguses |
| BCRBCR activator of RhoGEF and GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| CAMTA1calmodulin binding transcription activator 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Sageli (30–79%) | Esineb 2 haiguses |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CHD1chromodomain helicase DNA binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Sageli (30–79%) | Esineb 1 haiguses |
| CRKLCRK like proto-oncogene, adaptor protein | Sageli (30–79%) | Esineb 1 haiguses |
| CUL7cullin 7 | Sageli (30–79%) | Esineb 2 haiguses |
| DNM1Ldynamin 1L | Sageli (30–79%) | Esineb 1 haiguses |
| DOCK3dedicator of cytokinesis 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FGF3fibroblast growth factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FRA10AC1FRA10A associated CGG repeat 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GON4Lgon-4 like | Sageli (30–79%) | Esineb 1 haiguses |
| KAT6Alysine acetyltransferase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| KDM3Blysine demethylase 3B | Sageli (30–79%) | Esineb 1 haiguses |
| MAN1B1mannosidase alpha class 1B member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MEIS2Meis homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MRASmuscle RAS oncogene homolog | Sageli (30–79%) | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PDCD6IPprogrammed cell death 6 interacting protein | Sageli (30–79%) | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Sageli (30–79%) | Esineb 1 haiguses |
| PGM2L1phosphoglucomutase 2 like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PLK4polo like kinase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 2 haiguses |
| POU4F1POU class 4 homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PRKG2protein kinase cGMP-dependent 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PUM1pumilio RNA binding family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PUS7pseudouridine synthase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Sageli (30–79%) | Esineb 1 haiguses |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Sageli (30–79%) | Esineb 1 haiguses |
| SETD2SET domain containing 2, histone lysine methyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| SIN3ASIN3 transcription regulator family member A | Sageli (30–79%) | Esineb 1 haiguses |
| TAF1TATA-box binding protein associated factor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TUBGCP4tubulin gamma complex component 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBGCP6tubulin gamma complex component 6 | Sageli (30–79%) | Esineb 1 haiguses |
| YY1YY1 transcription factor | Sageli (30–79%) | Esineb 2 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Sageli (30–79%) | Esineb 3 haiguses |
| ZFXzinc finger protein X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF148zinc finger protein 148 | Sageli (30–79%) | Esineb 1 haiguses |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| CBFBcore-binding factor subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDH2cadherin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK10cyclin dependent kinase 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHX37DEAH-box helicase 37 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOT1LDOT1 like histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Mõnikord (5–29%) | Esineb 1 haiguses |
| FN1fibronectin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INSRinsulin receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| JARID2jumonji and AT-rich interaction domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF11kinesin family member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIFBPkinesin family binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNB1lamin B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MADDMAP kinase activating death domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12Lmediator complex subunit 12L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MESDmesoderm development LRP chaperone | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAV3neuron navigator 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Mõnikord (5–29%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OTUD5OTU deubiquitinase 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETSET nuclear proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| THOC6THO complex subunit 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIP12thyroid hormone receptor interactor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC5tetratricopeptide repeat domain 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UGDHUDP-glucose 6-dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR83OSWD repeat domain 83 opposite strand | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF292zinc finger protein 292 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF526zinc finger protein 526 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN4Cl-/H+ antiporter 4 | Harva (1–4%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Harva (1–4%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Harva (1–4%) | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Pole registreeritud | Esineb 1 haiguses |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Pole registreeritud | Esineb 1 haiguses |
| FLNAfilamin A | Pole registreeritud | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Pole registreeritud | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Pole registreeritud | Esineb 1 haiguses |
| POC1APOC1 centriolar protein A | Pole registreeritud | Esineb 1 haiguses |
| RALARAS like proto-oncogene A | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast