Kam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiPradėtinuo 449 $
Požymis
Decreased volume of lip
Klinikinis pavadinimas: 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).
Santrauka
- Taip pat vadinama
- Thin lips, Decreased volume of lip vermillion, Thin vermillion
- Kūno sistema
- Abnormality of head or neck
Decreased volume of lipHP:0000233
Kam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiPradėtinuo 449 $
Read the genes linked to Decreased volume of lip, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test143 genų susiję su Decreased volume of lip
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Decreased volume of lip. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Visada | 1 ligoje |
| CTCFCCCTC-binding factor | Visada | 2 ligose |
| DNMT3ADNA methyltransferase 3 alpha | Visada | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Visada | 2 ligose |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Visada | 1 ligoje |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Visada | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| KDM6Alysine demethylase 6A | Visada | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Visada | 1 ligoje |
| LIFRLIF receptor subunit alpha | Visada | 1 ligoje |
| MAPKAPK5MAPK activated protein kinase 5 | Visada | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Visada | 2 ligose |
| METTL23methyltransferase 23, arginine | Visada | 1 ligoje |
| NEXMIFneurite extension and migration factor | Visada | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Visada | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Visada | 2 ligose |
| PYCR1pyrroline-5-carboxylate reductase 1 | Visada | 1 ligoje |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Visada | 1 ligoje |
| SCYL2SCY1 like pseudokinase 2 | Visada | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Visada | 2 ligose |
| TBL1XR1TBL1X/Y related 1 | Visada | 2 ligose |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| UBE2Aubiquitin conjugating enzyme E2 A | Visada | 2 ligose |
| ACTBactin beta | Labai dažnai (80–99%) | 1 ligoje |
| ACTG1actin gamma 1 | Labai dažnai (80–99%) | 1 ligoje |
| BRD4bromodomain containing 4 | Labai dažnai (80–99%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Labai dažnai (80–99%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 2 ligose |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Labai dažnai (80–99%) | 1 ligoje |
| LMNAlamin A/C | Labai dažnai (80–99%) | 2 ligose |
| LMX1BLIM homeobox transcription factor 1 beta | Labai dažnai (80–99%) | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Labai dažnai (80–99%) | 1 ligoje |
| MYMXmyomixer, myoblast fusion factor | Labai dažnai (80–99%) | 1 ligoje |
| NBASNBAS subunit of NRZ tethering complex | Labai dažnai (80–99%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Labai dažnai (80–99%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Labai dažnai (80–99%) | 2 ligose |
| SEC23ASEC23 homolog A, COPII component | Labai dažnai (80–99%) | 1 ligoje |
| SMAD4SMAD family member 4 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 103 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Labai dažnai (80–99%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Labai dažnai (80–99%) | 1 ligoje |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Labai dažnai (80–99%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| TBCEtubulin folding cofactor E | Labai dažnai (80–99%) | 2 ligose |
| ZBTB18zinc finger and BTB domain containing 18 | Labai dažnai (80–99%) | 1 ligoje |
| ZMPSTE24zinc metallopeptidase STE24 | Labai dažnai (80–99%) | 1 ligoje |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| ACSL4acyl-CoA synthetase long chain family member 4 | Dažnai (30–79%) | 1 ligoje |
| AMMECR1AMMECR nuclear protein 1 | Dažnai (30–79%) | 1 ligoje |
| BANF1barrier to autointegration nuclear assembly factor 1 | Dažnai (30–79%) | 1 ligoje |
| BMP1bone morphogenetic protein 1 | Dažnai (30–79%) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Dažnai (30–79%) | 1 ligoje |
| CD96CD96 molecule | Dažnai (30–79%) | 1 ligoje |
| CDH11cadherin 11 | Dažnai (30–79%) | 1 ligoje |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Dažnai (30–79%) | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Dažnai (30–79%) | 3 ligose |
| FLT4fms related receptor tyrosine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| GATA4GATA binding protein 4 | Dažnai (30–79%) | 2 ligose |
| GATA5GATA binding protein 5 | Dažnai (30–79%) | 1 ligoje |
| GATA6GATA binding protein 6 | Dažnai (30–79%) | 1 ligoje |
| GDF1growth differentiation factor 1 | Dažnai (30–79%) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Dažnai (30–79%) | 2 ligose |
| GLULglutamate-ammonia ligase | Dažnai (30–79%) | 1 ligoje |
| GRB10growth factor receptor bound protein 10 | Dažnai (30–79%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Dažnai (30–79%) | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Dažnai (30–79%) | 1 ligoje |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Dažnai (30–79%) | 1 ligoje |
| KDM5Blysine demethylase 5B | Dažnai (30–79%) | 1 ligoje |
| KDRkinase insert domain receptor | Dažnai (30–79%) | 1 ligoje |
| LIG4DNA ligase 4 | Dažnai (30–79%) | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Dažnai (30–79%) | 1 ligoje |
| MPDU1mannose-P-dolichol utilization defect 1 | Dažnai (30–79%) | 2 ligose |
| NKX2-5NK2 homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| NKX2-6NK2 homeobox 6 | Dažnai (30–79%) | 1 ligoje |
| NOTCH2notch receptor 2 | Dažnai (30–79%) | 1 ligoje |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Dažnai (30–79%) | 2 ligose |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Dažnai (30–79%) | 2 ligose |
| RECQLRecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| RPS23ribosomal protein S23 | Dažnai (30–79%) | 1 ligoje |
| SATB2SATB homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Dažnai (30–79%) | 2 ligose |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TSHZ3teashirt zinc finger homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| TXNL4Athioredoxin like 4A | Dažnai (30–79%) | 1 ligoje |
| UBE3Bubiquitin protein ligase E3B | Dažnai (30–79%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| WDR19WD repeat domain 19 | Dažnai (30–79%) | 1 ligoje |
| ZFPM2zinc finger protein, FOG family member 2 | Dažnai (30–79%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Kartais (5–29%) | 1 ligoje |
| BRPF1bromodomain and PHD finger containing 1 | Kartais (5–29%) | 1 ligoje |
| CDK13cyclin dependent kinase 13 | Kartais (5–29%) | 1 ligoje |
| CKAP2Lcytoskeleton associated protein 2L | Kartais (5–29%) | 2 ligose |
| COG3component of oligomeric golgi complex 3 | Kartais (5–29%) | 1 ligoje |
| COG8component of oligomeric golgi complex 8 | Kartais (5–29%) | 1 ligoje |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Kartais (5–29%) | 1 ligoje |
| EVCEvC ciliary complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| EVC2EvC ciliary complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Kartais (5–29%) | 1 ligoje |
| GLI1GLI family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| HMGA2high mobility group AT-hook 2 | Kartais (5–29%) | 1 ligoje |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Kartais (5–29%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Kartais (5–29%) | 1 ligoje |
| KIF7kinesin family member 7 | Kartais (5–29%) | 1 ligoje |
| LEMD3LEM domain containing 3 | Kartais (5–29%) | 1 ligoje |
| MSL2MSL complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| MYL11myosin light chain 11 | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| PRORPprotein only RNase P catalytic subunit | Kartais (5–29%) | 1 ligoje |
| RECQL4RecQ like helicase 4 | Kartais (5–29%) | 1 ligoje |
| SEPHS1selenophosphate synthetase 1 | Kartais (5–29%) | 1 ligoje |
| SETD5SET domain containing 5 | Kartais (5–29%) | 1 ligoje |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Kartais (5–29%) | 1 ligoje |
| SMOC1SPARC related modular calcium binding 1 | Kartais (5–29%) | 1 ligoje |
| SMPD4sphingomyelin phosphodiesterase 4 | Kartais (5–29%) | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Kartais (5–29%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Kartais (5–29%) | 1 ligoje |
| TTI2TELO2 interacting protein 2 | Kartais (5–29%) | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Kartais (5–29%) | 2 ligose |
| XYLT2xylosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Neužfiksuota | 1 ligoje |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Neužfiksuota | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Neužfiksuota | 1 ligoje |
| BRAT1BRCA1 associated ATM activator 1 | Neužfiksuota | 1 ligoje |
| DDRGK1DDRGK domain containing 1 | Neužfiksuota | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Neužfiksuota | 1 ligoje |
| GJA1gap junction protein alpha 1 | Neužfiksuota | 1 ligoje |
| MED12mediator complex subunit 12 | Neužfiksuota | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Neužfiksuota | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Neužfiksuota | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Neužfiksuota | 1 ligoje |
| RUNX2RUNX family transcription factor 2 | Neužfiksuota | 1 ligoje |
| SLC45A1solute carrier family 45 member 1 | Neužfiksuota | 1 ligoje |
| TALDO1transaldolase 1 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Siauresni požymiai
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
Kam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiPradėtinuo 449 $
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites