Tunnus
Narrow face
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Kokkuvõte
- Teised nimetused
- Decreased breadth of face, Decreased width of face, Thin face, Decreased horizontal dimension of face, Decreased transverse dimension of face, Horizontal deficiency of face, Horizontal hypoplasia of face, Horizontal insufficiency of face, Narrow facies, Thin facies, Transverse deficiency of face, Transverse hypoplasia of face, Transverse insufficiency of face
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Narrow face, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test114 geeni on seotud tunnusega Narrow face
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Narrow 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 |
|---|---|---|
| COL18A1collagen type XVIII alpha 1 chain | Alati | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Alati | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alati | Esineb 1 haiguses |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Alati | Esineb 2 haiguses |
| HYOU1hypoxia up-regulated 1 | Alati | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alati | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Alati | Esineb 2 haiguses |
| MICU1mitochondrial calcium uptake 1 | Alati | Esineb 1 haiguses |
| NHSNHS actin remodeling regulator | Alati | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Alati | Esineb 2 haiguses |
| RYR3ryanodine receptor 3 | Alati | Esineb 1 haiguses |
| SLC37A4solute carrier family 37 member 4 | Alati | Esineb 1 haiguses |
| TRAIPTRAF interacting protein | Alati | Esineb 2 haiguses |
| TSPAN7tetraspanin 7 | Alati | Esineb 1 haiguses |
| ATRATR checkpoint kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATRIPATR interacting protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| CENPEcentromere protein E | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP152centrosomal protein 152 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP295centrosomal protein 295 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP63centrosomal protein 63 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CPAPcentrosome assembly and centriole elongation protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNA2DNA replication helicase/nuclease 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELNelastin | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LMNAlamin A/C | Väga sageli (80–99%) | Esineb 1 haiguses |
| MEGF8multiple EGF like domains 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Väga sageli (80–99%) | Esineb 2 haiguses |
| NINninein | Väga sageli (80–99%) | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 74 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Väga sageli (80–99%) | Esineb 2 haiguses |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| NUP85nucleoporin 85 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PAX3paired box 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PCNTpericentrin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PLK4polo like kinase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PQBP1polyglutamine binding protein 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| RAB23RAB23, member RAS oncogene family | Väga sageli (80–99%) | Esineb 1 haiguses |
| RBBP8RB binding protein 8, endonuclease | Väga sageli (80–99%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC9A6solute carrier family 9 member A6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| STX1Asyntaxin 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Sageli (30–79%) | Esineb 3 haiguses |
| ANTXR2ANTXR cell adhesion molecule 2 | Sageli (30–79%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BCORBCL6 corepressor | Sageli (30–79%) | Esineb 2 haiguses |
| BLMBLM RecQ like helicase | Sageli (30–79%) | Esineb 2 haiguses |
| CENPTcentromere protein T | Sageli (30–79%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Sageli (30–79%) | Esineb 1 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Sageli (30–79%) | Esineb 1 haiguses |
| SEMA3Esemaphorin 3E | Sageli (30–79%) | Esineb 1 haiguses |
| SLC16A2solute carrier family 16 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMSspermine synthase | Sageli (30–79%) | Esineb 1 haiguses |
| STEEP1STING1 ER exit protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TNNI2troponin I2, fast skeletal type | Sageli (30–79%) | Esineb 1 haiguses |
| TNNT3troponin T3, fast skeletal type | Sageli (30–79%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Sageli (30–79%) | Esineb 3 haiguses |
| UBE3Bubiquitin protein ligase E3B | Sageli (30–79%) | Esineb 2 haiguses |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Sageli (30–79%) | Esineb 2 haiguses |
| WRNWRN RecQ like helicase | Sageli (30–79%) | Esineb 1 haiguses |
| ZDHHC9zDHHC palmitoyltransferase 9 | Sageli (30–79%) | Esineb 1 haiguses |
| BORCS8BLOC-1 related complex subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFL2cofilin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KBTBD13kelch repeat and BTB domain containing 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL41kelch like family member 41 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KMT2Dlysine methyltransferase 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMOD3leiomodin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYPNmyopalladin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEBnebulin | Mõnikord (5–29%) | Esineb 2 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFX7regulatory factor X7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STRADASTE20 related adaptor alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM3tropomyosin 3 | Mõnikord (5–29%) | Esineb 3 haiguses |
| TRMT10AtRNA methyltransferase 10A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Pole registreeritud | Esineb 1 haiguses |
| ATP7AATPase copper transporting alpha | Pole registreeritud | Esineb 1 haiguses |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Pole registreeritud | Esineb 1 haiguses |
| DSTYKdual serine/threonine and tyrosine protein kinase | Pole registreeritud | Esineb 1 haiguses |
| FBN1fibrillin 1 | Pole registreeritud | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Pole registreeritud | Esineb 1 haiguses |
| MTM1myotubularin 1 | Pole registreeritud | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Pole registreeritud | Esineb 1 haiguses |
| NOGnoggin | Pole registreeritud | Esineb 1 haiguses |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| PBX1PBX homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| RLIMring finger protein, LIM domain interacting | Pole registreeritud | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Pole registreeritud | Esineb 1 haiguses |
| SIX1SIX homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC6A8solute carrier family 6 member 8 | Pole registreeritud | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Pole registreeritud | Esineb 1 haiguses |
| TUBB4Atubulin beta 4A class IVa | Pole registreeritud | Esineb 1 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