Požymis
Flat face
Absence of concavity or convexity of the face when viewed in profile.
Santrauka
- Taip pat vadinama
- Flat facial shape, Flat facial profile, Flat facies
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Flat face. 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 |
|---|---|---|
| AMMECR1AMMECR nuclear protein 1 | Visada | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Visada | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Visada | 2 ligose |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Visada | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Visada | 2 ligose |
| CDH1cadherin 1 | Visada | 1 ligoje |
| COL9A1collagen type IX alpha 1 chain | Visada | 2 ligose |
| DCPSdecapping enzyme, scavenger | Visada | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Visada | 1 ligoje |
| GLB1galactosidase beta 1 | Visada | 1 ligoje |
| KIAA0753KIAA0753 | Visada | 2 ligose |
| LONP1lon peptidase 1, mitochondrial | Visada | 2 ligose |
| MN1MN1 proto-oncogene, transcriptional regulator | Visada | 1 ligoje |
| MYH3myosin heavy chain 3 | Visada | 1 ligoje |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Visada | 1 ligoje |
| PAK3p21 (RAC1) activated kinase 3 | Visada | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Visada | 3 ligose |
| PEX26peroxisomal biogenesis factor 26 | Visada | 2 ligose |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Visada | 1 ligoje |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Visada | 1 ligoje |
| RAB5IFRAB5 interacting factor | Visada | 1 ligoje |
| RAD21RAD21 cohesin complex component | Visada | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Visada | 1 ligoje |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| TMCO1transmembrane and coiled-coil domains 1 | Visada | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Visada | 2 ligose |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| XYLT1xylosyltransferase 1 | Visada | 1 ligoje |
| ABCC9ATP binding cassette subfamily C member 9 | Labai dažnai (80–99%) | 1 ligoje |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Labai dažnai (80–99%) | 2 ligose |
| ATRXATRX chromatin remodeler | Labai dažnai (80–99%) | 1 ligoje |
| B4GALT7beta-1,4-galactosyltransferase 7 | Labai dažnai (80–99%) | 1 ligoje |
| CDH11cadherin 11 | Labai dažnai (80–99%) | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Labai dažnai (80–99%) | 2 ligose |
| COL9A2collagen type IX alpha 2 chain | Labai dažnai (80–99%) | 1 ligoje |
| COL9A3collagen type IX alpha 3 chain | Labai dažnai (80–99%) | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Labai dažnai (80–99%) | 2 ligose |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 3 ligose |
| FGFR3fibroblast growth factor receptor 3 | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 75 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| FLNBfilamin B | Labai dažnai (80–99%) | 2 ligose |
| GUSBglucuronidase beta | Labai dažnai (80–99%) | 1 ligoje |
| LOXL3lysyl oxidase like 3 | Labai dažnai (80–99%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Labai dažnai (80–99%) | 2 ligose |
| PAX3paired box 3 | Labai dažnai (80–99%) | 2 ligose |
| PDE4Dphosphodiesterase 4D | Labai dažnai (80–99%) | 2 ligose |
| PEX1peroxisomal biogenesis factor 1 | Labai dažnai (80–99%) | 2 ligose |
| PEX10peroxisomal biogenesis factor 10 | Labai dažnai (80–99%) | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Labai dažnai (80–99%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Labai dažnai (80–99%) | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Labai dažnai (80–99%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Labai dažnai (80–99%) | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Labai dažnai (80–99%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Labai dažnai (80–99%) | 2 ligose |
| PEX3peroxisomal biogenesis factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Labai dažnai (80–99%) | 2 ligose |
| SOX9SRY-box transcription factor 9 | Labai dažnai (80–99%) | 2 ligose |
| TBX22T-box transcription factor 22 | Labai dažnai (80–99%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Dažnai (30–79%) | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Dažnai (30–79%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Dažnai (30–79%) | 6 ligose |
| CREBBPCREB binding lysine acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Dažnai (30–79%) | 1 ligoje |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Dažnai (30–79%) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Dažnai (30–79%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 4 ligose |
| KAT5lysine acetyltransferase 5 | Dažnai (30–79%) | 1 ligoje |
| KIF22kinesin family member 22 | Dažnai (30–79%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Dažnai (30–79%) | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Dažnai (30–79%) | 1 ligoje |
| SLC35B2solute carrier family 35 member B2 | Dažnai (30–79%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Dažnai (30–79%) | 1 ligoje |
| TUBBtubulin beta class I | Dažnai (30–79%) | 1 ligoje |
| WNT5AWnt family member 5A | Dažnai (30–79%) | 1 ligoje |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Dažnai (30–79%) | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Kartais (5–29%) | 1 ligoje |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| CDCA7cell division cycle associated 7 | Kartais (5–29%) | 2 ligose |
| CHST3carbohydrate sulfotransferase 3 | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| DEAF1DEAF1 transcription factor | Kartais (5–29%) | 1 ligoje |
| DNMT3BDNA methyltransferase 3 beta | Kartais (5–29%) | 2 ligose |
| FBXO31F-box protein 31 | Kartais (5–29%) | 1 ligoje |
| FN1fibronectin 1 | Kartais (5–29%) | 1 ligoje |
| GAD1glutamate decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| HELLShelicase, lymphoid specific | Kartais (5–29%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Kartais (5–29%) | 2 ligose |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 1 ligoje |
| MATN3matrilin 3 | Kartais (5–29%) | 2 ligose |
| MAU2MAU2 sister chromatid cohesion factor | Kartais (5–29%) | 1 ligoje |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Kartais (5–29%) | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Kartais (5–29%) | 1 ligoje |
| PTCH1patched 1 | Kartais (5–29%) | 1 ligoje |
| SLC39A8solute carrier family 39 member 8 | Kartais (5–29%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Kartais (5–29%) | 1 ligoje |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Kartais (5–29%) | 1 ligoje |
| ZBTB24zinc finger and BTB domain containing 24 | Kartais (5–29%) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Neužfiksuota | 1 ligoje |
| CCN2cellular communication network factor 2 | Neužfiksuota | 1 ligoje |
| CTNND1catenin delta 1 | Neužfiksuota | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Neužfiksuota | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| GPC6glypican 6 | Neužfiksuota | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Neužfiksuota | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Neužfiksuota | 1 ligoje |
| SUMF1sulfatase modifying factor 1 | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
| TMEM70transmembrane protein 70 | Neužfiksuota | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Neužfiksuota | 2 ligose |
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.
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.
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