Træk
Decreased volume of lip
Klinisk navn: 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).
Resumé
- Også kaldet
- Thin lips, Decreased volume of lip vermillion, Thin vermillion
- Kropssystem
- Abnormality of head or neck
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test143 gener knyttet til Decreased volume of lip
Ændringer i disse gener forårsager sjældne tilstande, hvor Decreased volume of lip ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altid | I 1 tilstand |
| CTCFCCCTC-binding factor | Altid | I 2 tilstande |
| DNMT3ADNA methyltransferase 3 alpha | Altid | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Altid | I 2 tilstande |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Altid | I 1 tilstand |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Altid | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Altid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Altid | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Altid | I 1 tilstand |
| MAPKAPK5MAPK activated protein kinase 5 | Altid | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Altid | I 2 tilstande |
| METTL23methyltransferase 23, arginine | Altid | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Altid | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Altid | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Altid | I 2 tilstande |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altid | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Altid | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Altid | I 2 tilstande |
| TBL1XR1TBL1X/Y related 1 | Altid | I 2 tilstande |
| TM2D3TM2 domain containing 3 | Altid | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Altid | I 2 tilstande |
| ACTBactin beta | Meget ofte (80–99 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Meget ofte (80–99 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Meget ofte (80–99 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 2 tilstande |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Meget ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Meget ofte (80–99 %) | I 2 tilstande |
| LMX1BLIM homeobox transcription factor 1 beta | Meget ofte (80–99 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Meget ofte (80–99 %) | I 1 tilstand |
| MYMXmyomixer, myoblast fusion factor | Meget ofte (80–99 %) | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Meget ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Meget ofte (80–99 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Meget ofte (80–99 %) | I 2 tilstande |
| SEC23ASEC23 homolog A, COPII component | Meget ofte (80–99 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Meget ofte (80–99 %) | I 1 tilstand |
Vis 103 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Meget ofte (80–99 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Meget ofte (80–99 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Meget ofte (80–99 %) | I 2 tilstande |
| ZBTB18zinc finger and BTB domain containing 18 | Meget ofte (80–99 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Meget ofte (80–99 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| ACSL4acyl-CoA synthetase long chain family member 4 | Ofte (30–79 %) | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BANF1barrier to autointegration nuclear assembly factor 1 | Ofte (30–79 %) | I 1 tilstand |
| BMP1bone morphogenetic protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 1 tilstand |
| CD96CD96 molecule | Ofte (30–79 %) | I 1 tilstand |
| CDH11cadherin 11 | Ofte (30–79 %) | I 1 tilstand |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Ofte (30–79 %) | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Ofte (30–79 %) | I 3 tilstande |
| FLT4fms related receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 2 tilstande |
| GATA5GATA binding protein 5 | Ofte (30–79 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Ofte (30–79 %) | I 1 tilstand |
| GDF1growth differentiation factor 1 | Ofte (30–79 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Ofte (30–79 %) | I 2 tilstande |
| GLULglutamate-ammonia ligase | Ofte (30–79 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ofte (30–79 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| KDM5Blysine demethylase 5B | Ofte (30–79 %) | I 1 tilstand |
| KDRkinase insert domain receptor | Ofte (30–79 %) | I 1 tilstand |
| LIG4DNA ligase 4 | Ofte (30–79 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ofte (30–79 %) | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Ofte (30–79 %) | I 2 tilstande |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| NKX2-6NK2 homeobox 6 | Ofte (30–79 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Ofte (30–79 %) | I 2 tilstande |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofte (30–79 %) | I 2 tilstande |
| RECQLRecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| RPS23ribosomal protein S23 | Ofte (30–79 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TSHZ3teashirt zinc finger homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| TXNL4Athioredoxin like 4A | Ofte (30–79 %) | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Ofte (30–79 %) | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Ofte (30–79 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Nogle gange (5–29 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Nogle gange (5–29 %) | I 2 tilstande |
| COG3component of oligomeric golgi complex 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EVCEvC ciliary complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI1GLI family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MYL11myosin light chain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SEPHS1selenophosphate synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Nogle gange (5–29 %) | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMPD4sphingomyelin phosphodiesterase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Nogle gange (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TTI2TELO2 interacting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| XYLT2xylosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ikke registreret | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Ikke registreret | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registreret | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Ikke registreret | I 1 tilstand |
| DDRGK1DDRGK domain containing 1 | Ikke registreret | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registreret | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ikke registreret | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registreret | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ikke registreret | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ikke registreret | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ikke registreret | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Ikke registreret | I 1 tilstand |
| SLC45A1solute carrier family 45 member 1 | Ikke registreret | I 1 tilstand |
| TALDO1transaldolase 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger