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Tunnus
Deep philtrum
Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
Kokkuvõte
- Teised nimetused
- Increased depth of philtrum, Philtrum, deep, Prominent philtrum, Pronounced philtrum
- Kehasüsteem
- Abnormality of head or neck
Deep philtrumHP:0002002
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Logi sisseKüsiAlustaalates 449 $
Read the genes linked to Deep philtrum, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test89 geeni on seotud tunnusega Deep philtrum
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Deep philtrum. 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 |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Alati | Esineb 1 haiguses |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Alati | Esineb 1 haiguses |
| AUTS2activator of transcription and developmental regulator AUTS2 | Alati | Esineb 1 haiguses |
| DNMT3ADNA methyltransferase 3 alpha | Alati | Esineb 2 haiguses |
| FLNAfilamin A | Alati | Esineb 1 haiguses |
| IL6STinterleukin 6 cytokine family signal transducer | Alati | Esineb 1 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alati | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Alati | Esineb 2 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Alati | Esineb 1 haiguses |
| SPIN4spindlin family member 4 | Alati | Esineb 1 haiguses |
| TAF4TATA-box binding protein associated factor 4 | Alati | Esineb 1 haiguses |
| TCF4transcription factor 4 | Alati | Esineb 1 haiguses |
| EXT1exostosin glycosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NBNnibrin | Väga sageli (80–99%) | Esineb 2 haiguses |
| RAD21RAD21 cohesin complex component | Väga sageli (80–99%) | Esineb 1 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sageli (30–79%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| CBLCbl proto-oncogene | Sageli (30–79%) | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Sageli (30–79%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EBF3EBF transcription factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Sageli (30–79%) | Esineb 1 haiguses |
| GON4Lgon-4 like | Sageli (30–79%) | Esineb 1 haiguses |
| H4C9H4 clustered histone 9 | Sageli (30–79%) | Esineb 1 haiguses |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Sageli (30–79%) | Esineb 1 haiguses |
| INTS1integrator complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNK4potassium two pore domain channel subfamily K member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| KICS2KICSTOR subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PGBD5piggyBac transposable element derived 5 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 49 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PURApurine rich element binding protein A | Sageli (30–79%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Sageli (30–79%) | Esineb 1 haiguses |
| SLC6A1solute carrier family 6 member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC6A11solute carrier family 6 member 11 | Sageli (30–79%) | Esineb 1 haiguses |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Sageli (30–79%) | Esineb 1 haiguses |
| WDR83OSWD repeat domain 83 opposite strand | Sageli (30–79%) | Esineb 1 haiguses |
| ZIC2Zic family zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COG8component of oligomeric golgi complex 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOT1LDOT1 like histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3AH3.3 histone A | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JARID2jumonji and AT-rich interaction domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH8myosin heavy chain 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOVA2NOVA alternative splicing regulator 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NRCAMneuronal cell adhesion molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC35C1solute carrier family 35 member C1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOE1target of EGR1, exonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE2Aubiquitin conjugating enzyme E2 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF148zinc finger protein 148 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Harva (1–4%) | Esineb 1 haiguses |
| SMPD4sphingomyelin phosphodiesterase 4 | Harva (1–4%) | Esineb 1 haiguses |
| CHSY1chondroitin sulfate synthase 1 | Pole registreeritud | Esineb 1 haiguses |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Pole registreeritud | Esineb 1 haiguses |
| FBN1fibrillin 1 | Pole registreeritud | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| KIF11kinesin family member 11 | Pole registreeritud | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Pole registreeritud | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Pole registreeritud | Esineb 1 haiguses |
| MGPmatrix Gla protein | Pole registreeritud | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Pole registreeritud | Esineb 1 haiguses |
| PAM16presequence translocase associated motor 16 | Pole registreeritud | Esineb 1 haiguses |
| PBX1PBX homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Pole registreeritud | Esineb 1 haiguses |
| SMOC1SPARC related modular calcium binding 1 | Pole registreeritud | Esineb 1 haiguses |
| TALDO1transaldolase 1 | 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.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast