Tunnus
Flat face
Absence of concavity or convexity of the face when viewed in profile.
Kokkuvõte
- Teised nimetused
- Flat facial shape, Flat facial profile, Flat facies
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Flat face, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test115 geeni on seotud tunnusega Flat face
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Flat face. 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 |
|---|---|---|
| AMMECR1AMMECR nuclear protein 1 | Alati | Esineb 1 haiguses |
| ATXN7L3ataxin 7 like 3 | Alati | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alati | Esineb 2 haiguses |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Alati | Esineb 1 haiguses |
| CCBE1collagen and calcium binding EGF domains 1 | Alati | Esineb 2 haiguses |
| CDH1cadherin 1 | Alati | Esineb 1 haiguses |
| COL9A1collagen type IX alpha 1 chain | Alati | Esineb 2 haiguses |
| DCPSdecapping enzyme, scavenger | Alati | Esineb 1 haiguses |
| DONSONDNA replication fork stabilization factor DONSON | Alati | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Alati | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Alati | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Alati | Esineb 2 haiguses |
| LONP1lon peptidase 1, mitochondrial | Alati | Esineb 2 haiguses |
| MN1MN1 proto-oncogene, transcriptional regulator | Alati | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Alati | Esineb 1 haiguses |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Alati | Esineb 1 haiguses |
| PAK3p21 (RAC1) activated kinase 3 | Alati | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Alati | Esineb 3 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Alati | Esineb 2 haiguses |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Alati | Esineb 1 haiguses |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alati | Esineb 1 haiguses |
| RAB5IFRAB5 interacting factor | Alati | Esineb 1 haiguses |
| RAD21RAD21 cohesin complex component | Alati | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Alati | Esineb 1 haiguses |
| TM2D3TM2 domain containing 3 | Alati | Esineb 1 haiguses |
| TMCO1transmembrane and coiled-coil domains 1 | Alati | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Alati | Esineb 2 haiguses |
| UBAP2Lubiquitin associated protein 2 like | Alati | Esineb 1 haiguses |
| XYLT1xylosyltransferase 1 | Alati | Esineb 1 haiguses |
| ABCC9ATP binding cassette subfamily C member 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATRXATRX chromatin remodeler | Väga sageli (80–99%) | Esineb 1 haiguses |
| B4GALT7beta-1,4-galactosyltransferase 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDH11cadherin 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL9A2collagen type IX alpha 2 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL9A3collagen type IX alpha 3 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| FAT4FAT atypical cadherin 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 75 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| FLNBfilamin B | Väga sageli (80–99%) | Esineb 2 haiguses |
| GUSBglucuronidase beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| LOXL3lysyl oxidase like 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| PAX3paired box 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PDE4Dphosphodiesterase 4D | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SOX9SRY-box transcription factor 9 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBX22T-box transcription factor 22 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COL11A2collagen type XI alpha 2 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Sageli (30–79%) | Esineb 6 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sageli (30–79%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Sageli (30–79%) | Esineb 4 haiguses |
| KAT5lysine acetyltransferase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| KIF22kinesin family member 22 | Sageli (30–79%) | Esineb 1 haiguses |
| MAPRE2microtubule associated protein RP/EB family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PRMT7protein arginine methyltransferase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC35B2solute carrier family 35 member B2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBBtubulin beta class I | Sageli (30–79%) | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Sageli (30–79%) | Esineb 1 haiguses |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Sageli (30–79%) | Esineb 1 haiguses |
| AMER1APC membrane recruitment protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDCA7cell division cycle associated 7 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DEAF1DEAF1 transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNMT3BDNA methyltransferase 3 beta | Mõnikord (5–29%) | Esineb 2 haiguses |
| FBXO31F-box protein 31 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FN1fibronectin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GAD1glutamate decarboxylase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HELLShelicase, lymphoid specific | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Mõnikord (5–29%) | Esineb 2 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MATN3matrilin 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTCH1patched 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC39A8solute carrier family 39 member 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZBTB24zinc finger and BTB domain containing 24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Harva (1–4%) | Esineb 1 haiguses |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Pole registreeritud | Esineb 1 haiguses |
| CCN2cellular communication network factor 2 | Pole registreeritud | Esineb 1 haiguses |
| CTNND1catenin delta 1 | Pole registreeritud | Esineb 1 haiguses |
| EBPEBP cholestenol delta-isomerase | Pole registreeritud | Esineb 1 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| FLNAfilamin A | Pole registreeritud | Esineb 1 haiguses |
| GPC6glypican 6 | Pole registreeritud | Esineb 1 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Pole registreeritud | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| SUMF1sulfatase modifying factor 1 | Pole registreeritud | Esineb 1 haiguses |
| TAPT1transmembrane anterior posterior transformation 1 | Pole registreeritud | Esineb 1 haiguses |
| TMEM70transmembrane protein 70 | Pole registreeritud | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Pole registreeritud | Esineb 2 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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast