Piirre
Decreased volume of lip
Kliininen nimi: Thin vermilion border
Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
Yhteenveto
- Tunnetaan myös nimellä
- Thin lips, Decreased volume of lip vermillion, Thin vermillion
- Elimistön järjestelmä
- Abnormality of head or neck
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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Tilaa Genome Test143 geeniä, jotka liittyvät piirteeseen Decreased volume of lip
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Decreased volume of lip esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Aina | 1 sairaudessa |
| CTCFCCCTC-binding factor | Aina | 2 sairaudessa |
| DNMT3ADNA methyltransferase 3 alpha | Aina | 1 sairaudessa |
| FIG4FIG4 phosphoinositide 5-phosphatase | Aina | 2 sairaudessa |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Aina | 1 sairaudessa |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Aina | 1 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| KDM6Alysine demethylase 6A | Aina | 1 sairaudessa |
| KMT2Dlysine methyltransferase 2D | Aina | 1 sairaudessa |
| LIFRLIF receptor subunit alpha | Aina | 1 sairaudessa |
| MAPKAPK5MAPK activated protein kinase 5 | Aina | 1 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Aina | 2 sairaudessa |
| METTL23methyltransferase 23, arginine | Aina | 1 sairaudessa |
| NEXMIFneurite extension and migration factor | Aina | 1 sairaudessa |
| NSD2nuclear receptor binding SET domain protein 2 | Aina | 1 sairaudessa |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Aina | 1 sairaudessa |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Aina | 1 sairaudessa |
| PRMT7protein arginine methyltransferase 7 | Aina | 2 sairaudessa |
| PYCR1pyrroline-5-carboxylate reductase 1 | Aina | 1 sairaudessa |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Aina | 1 sairaudessa |
| SCYL2SCY1 like pseudokinase 2 | Aina | 1 sairaudessa |
| SMC3structural maintenance of chromosomes 3 | Aina | 2 sairaudessa |
| TBL1XR1TBL1X/Y related 1 | Aina | 2 sairaudessa |
| TM2D3TM2 domain containing 3 | Aina | 1 sairaudessa |
| UBE2Aubiquitin conjugating enzyme E2 A | Aina | 2 sairaudessa |
| ACTBactin beta | Hyvin usein (80–99%) | 1 sairaudessa |
| ACTG1actin gamma 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| BRD4bromodomain containing 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| FMR1fragile X messenger ribonucleoprotein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| HDAC8histone deacetylase 8 | Hyvin usein (80–99%) | 2 sairaudessa |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Hyvin usein (80–99%) | 1 sairaudessa |
| LMNAlamin A/C | Hyvin usein (80–99%) | 2 sairaudessa |
| LMX1BLIM homeobox transcription factor 1 beta | Hyvin usein (80–99%) | 1 sairaudessa |
| MYMKmyomaker, myoblast fusion factor | Hyvin usein (80–99%) | 1 sairaudessa |
| MYMXmyomixer, myoblast fusion factor | Hyvin usein (80–99%) | 1 sairaudessa |
| NBASNBAS subunit of NRZ tethering complex | Hyvin usein (80–99%) | 1 sairaudessa |
| NIPBLNIPBL cohesin loading factor | Hyvin usein (80–99%) | 1 sairaudessa |
| RAD21RAD21 cohesin complex component | Hyvin usein (80–99%) | 2 sairaudessa |
| SEC23ASEC23 homolog A, COPII component | Hyvin usein (80–99%) | 1 sairaudessa |
| SMAD4SMAD family member 4 | Hyvin usein (80–99%) | 1 sairaudessa |
Näytä 103 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Hyvin usein (80–99%) | 1 sairaudessa |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Hyvin usein (80–99%) | 1 sairaudessa |
| STXBP1syntaxin binding protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TBCEtubulin folding cofactor E | Hyvin usein (80–99%) | 2 sairaudessa |
| ZBTB18zinc finger and BTB domain containing 18 | Hyvin usein (80–99%) | 1 sairaudessa |
| ZMPSTE24zinc metallopeptidase STE24 | Hyvin usein (80–99%) | 1 sairaudessa |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Usein (30–79%) | 1 sairaudessa |
| ACSL4acyl-CoA synthetase long chain family member 4 | Usein (30–79%) | 1 sairaudessa |
| AMMECR1AMMECR nuclear protein 1 | Usein (30–79%) | 1 sairaudessa |
| BANF1barrier to autointegration nuclear assembly factor 1 | Usein (30–79%) | 1 sairaudessa |
| BMP1bone morphogenetic protein 1 | Usein (30–79%) | 1 sairaudessa |
| CAMTA1calmodulin binding transcription activator 1 | Usein (30–79%) | 1 sairaudessa |
| CD96CD96 molecule | Usein (30–79%) | 1 sairaudessa |
| CDH11cadherin 11 | Usein (30–79%) | 1 sairaudessa |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Usein (30–79%) | 1 sairaudessa |
| COL3A1collagen type III alpha 1 chain | Usein (30–79%) | 3 sairaudessa |
| FLT4fms related receptor tyrosine kinase 4 | Usein (30–79%) | 1 sairaudessa |
| GATA4GATA binding protein 4 | Usein (30–79%) | 2 sairaudessa |
| GATA5GATA binding protein 5 | Usein (30–79%) | 1 sairaudessa |
| GATA6GATA binding protein 6 | Usein (30–79%) | 1 sairaudessa |
| GDF1growth differentiation factor 1 | Usein (30–79%) | 1 sairaudessa |
| GJA5gap junction protein alpha 5 | Usein (30–79%) | 2 sairaudessa |
| GLULglutamate-ammonia ligase | Usein (30–79%) | 1 sairaudessa |
| GRB10growth factor receptor bound protein 10 | Usein (30–79%) | 1 sairaudessa |
| HDAC4histone deacetylase 4 | Usein (30–79%) | 1 sairaudessa |
| IGF1Rinsulin like growth factor 1 receptor | Usein (30–79%) | 1 sairaudessa |
| JAG1jagged canonical Notch ligand 1 | Usein (30–79%) | 1 sairaudessa |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Usein (30–79%) | 1 sairaudessa |
| KDM5Blysine demethylase 5B | Usein (30–79%) | 1 sairaudessa |
| KDRkinase insert domain receptor | Usein (30–79%) | 1 sairaudessa |
| LIG4DNA ligase 4 | Usein (30–79%) | 1 sairaudessa |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Usein (30–79%) | 1 sairaudessa |
| MPDU1mannose-P-dolichol utilization defect 1 | Usein (30–79%) | 2 sairaudessa |
| NKX2-5NK2 homeobox 5 | Usein (30–79%) | 1 sairaudessa |
| NKX2-6NK2 homeobox 6 | Usein (30–79%) | 1 sairaudessa |
| NOTCH2notch receptor 2 | Usein (30–79%) | 1 sairaudessa |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Usein (30–79%) | 2 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Usein (30–79%) | 1 sairaudessa |
| POLR3ARNA polymerase III subunit A | Usein (30–79%) | 1 sairaudessa |
| PYCR2pyrroline-5-carboxylate reductase 2 | Usein (30–79%) | 2 sairaudessa |
| RECQLRecQ like helicase | Usein (30–79%) | 1 sairaudessa |
| RPS23ribosomal protein S23 | Usein (30–79%) | 1 sairaudessa |
| SATB2SATB homeobox 2 | Usein (30–79%) | 1 sairaudessa |
| SONSON DNA and RNA binding protein | Usein (30–79%) | 2 sairaudessa |
| TBX1T-box transcription factor 1 | Usein (30–79%) | 1 sairaudessa |
| TSHZ3teashirt zinc finger homeobox 3 | Usein (30–79%) | 1 sairaudessa |
| TXNL4Athioredoxin like 4A | Usein (30–79%) | 1 sairaudessa |
| UBE3Bubiquitin protein ligase E3B | Usein (30–79%) | 1 sairaudessa |
| VAC14VAC14 component of PIKFYVE complex | Usein (30–79%) | 1 sairaudessa |
| WDR19WD repeat domain 19 | Usein (30–79%) | 1 sairaudessa |
| ZFPM2zinc finger protein, FOG family member 2 | Usein (30–79%) | 1 sairaudessa |
| ADNPactivity dependent neuroprotector homeobox | Joskus (5–29%) | 1 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Joskus (5–29%) | 1 sairaudessa |
| BRPF1bromodomain and PHD finger containing 1 | Joskus (5–29%) | 1 sairaudessa |
| CDK13cyclin dependent kinase 13 | Joskus (5–29%) | 1 sairaudessa |
| CKAP2Lcytoskeleton associated protein 2L | Joskus (5–29%) | 2 sairaudessa |
| COG3component of oligomeric golgi complex 3 | Joskus (5–29%) | 1 sairaudessa |
| COG8component of oligomeric golgi complex 8 | Joskus (5–29%) | 1 sairaudessa |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Joskus (5–29%) | 1 sairaudessa |
| EVCEvC ciliary complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| EVC2EvC ciliary complex subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| GJA8gap junction protein alpha 8 | Joskus (5–29%) | 1 sairaudessa |
| GLI1GLI family zinc finger 1 | Joskus (5–29%) | 1 sairaudessa |
| HMGA2high mobility group AT-hook 2 | Joskus (5–29%) | 1 sairaudessa |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Joskus (5–29%) | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Joskus (5–29%) | 1 sairaudessa |
| KIF7kinesin family member 7 | Joskus (5–29%) | 1 sairaudessa |
| LEMD3LEM domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| MSL2MSL complex subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| MYL11myosin light chain 11 | Joskus (5–29%) | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| NDPnorrin cystine knot growth factor NDP | Joskus (5–29%) | 1 sairaudessa |
| NF1neurofibromin 1 | Joskus (5–29%) | 1 sairaudessa |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Joskus (5–29%) | 1 sairaudessa |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Joskus (5–29%) | 1 sairaudessa |
| PRORPprotein only RNase P catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| RECQL4RecQ like helicase 4 | Joskus (5–29%) | 1 sairaudessa |
| SEPHS1selenophosphate synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| SETD5SET domain containing 5 | Joskus (5–29%) | 1 sairaudessa |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Joskus (5–29%) | 1 sairaudessa |
| SMOC1SPARC related modular calcium binding 1 | Joskus (5–29%) | 1 sairaudessa |
| SMPD4sphingomyelin phosphodiesterase 4 | Joskus (5–29%) | 1 sairaudessa |
| SPOPspeckle type BTB/POZ protein | Joskus (5–29%) | 1 sairaudessa |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Joskus (5–29%) | 1 sairaudessa |
| TTI2TELO2 interacting protein 2 | Joskus (5–29%) | 1 sairaudessa |
| TWIST2twist family bHLH transcription factor 2 | Joskus (5–29%) | 2 sairaudessa |
| XYLT2xylosyltransferase 2 | Joskus (5–29%) | 1 sairaudessa |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ei kirjattu | 1 sairaudessa |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Ei kirjattu | 1 sairaudessa |
| B3GLCTbeta 3-glucosyltransferase | Ei kirjattu | 1 sairaudessa |
| BRAT1BRCA1 associated ATM activator 1 | Ei kirjattu | 1 sairaudessa |
| DDRGK1DDRGK domain containing 1 | Ei kirjattu | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ei kirjattu | 1 sairaudessa |
| GJA1gap junction protein alpha 1 | Ei kirjattu | 1 sairaudessa |
| MED12mediator complex subunit 12 | Ei kirjattu | 1 sairaudessa |
| PDGFRBplatelet derived growth factor receptor beta | Ei kirjattu | 1 sairaudessa |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ei kirjattu | 1 sairaudessa |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ei kirjattu | 1 sairaudessa |
| RUNX2RUNX family transcription factor 2 | Ei kirjattu | 1 sairaudessa |
| SLC45A1solute carrier family 45 member 1 | Ei kirjattu | 1 sairaudessa |
| TALDO1transaldolase 1 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa