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Egenskap
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).
Sammendrag
- Også kalt
- Thin lips, Decreased volume of lip vermillion, Thin vermillion
- Kroppssystem
- Abnormality of head or neck
Decreased volume of lipHP:0000233
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Read the genes linked to Decreased volume of lip, and the rest of your genome, with one test.
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Få mitt Genome Test143 gener knyttet til Decreased volume of lip
Endringer i disse genene forårsaker sjeldne tilstander der Decreased volume of lip forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alltid | I 1 tilstand |
| CTCFCCCTC-binding factor | Alltid | I 2 tilstander |
| DNMT3ADNA methyltransferase 3 alpha | Alltid | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Alltid | I 2 tilstander |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Alltid | I 1 tilstand |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alltid | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Alltid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Alltid | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Alltid | I 1 tilstand |
| MAPKAPK5MAPK activated protein kinase 5 | Alltid | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Alltid | I 2 tilstander |
| METTL23methyltransferase 23, arginine | Alltid | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Alltid | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alltid | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Alltid | I 2 tilstander |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alltid | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Alltid | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Alltid | I 2 tilstander |
| TBL1XR1TBL1X/Y related 1 | Alltid | I 2 tilstander |
| TM2D3TM2 domain containing 3 | Alltid | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Alltid | I 2 tilstander |
| ACTBactin beta | Svært ofte (80–99 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Svært ofte (80–99 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Svært ofte (80–99 %) | I 2 tilstander |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Svært ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Svært ofte (80–99 %) | I 2 tilstander |
| LMX1BLIM homeobox transcription factor 1 beta | Svært ofte (80–99 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Svært ofte (80–99 %) | I 1 tilstand |
| MYMXmyomixer, myoblast fusion factor | Svært ofte (80–99 %) | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Svært ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Svært ofte (80–99 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Svært ofte (80–99 %) | I 2 tilstander |
| SEC23ASEC23 homolog A, COPII component | Svært ofte (80–99 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 103 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Svært ofte (80–99 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Svært ofte (80–99 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Svært ofte (80–99 %) | I 2 tilstander |
| ZBTB18zinc finger and BTB domain containing 18 | Svært ofte (80–99 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Svært 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 tilstander |
| FLT4fms related receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Noen ganger (5–29 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Noen ganger (5–29 %) | I 2 tilstander |
| COG3component of oligomeric golgi complex 3 | Noen ganger (5–29 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EVCEvC ciliary complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI1GLI family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYL11myosin light chain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SEPHS1selenophosphate synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Noen ganger (5–29 %) | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMPD4sphingomyelin phosphodiesterase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Noen ganger (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TTI2TELO2 interacting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| XYLT2xylosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ikke registrert | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Ikke registrert | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registrert | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Ikke registrert | I 1 tilstand |
| DDRGK1DDRGK domain containing 1 | Ikke registrert | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registrert | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ikke registrert | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registrert | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ikke registrert | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ikke registrert | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ikke registrert | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Ikke registrert | I 1 tilstand |
| SLC45A1solute carrier family 45 member 1 | Ikke registrert | I 1 tilstand |
| TALDO1transaldolase 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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Fra 449 $Gratis frakt · Resultater på 6–8 uker