Požymis
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).
Santrauka
- Taip pat vadinama
- 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
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test114 genų susiję su Narrow face
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Narrow 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 |
|---|---|---|
| COL18A1collagen type XVIII alpha 1 chain | Visada | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Visada | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Visada | 1 ligoje |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Visada | 2 ligose |
| HYOU1hypoxia up-regulated 1 | Visada | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Visada | 1 ligoje |
| MED12mediator complex subunit 12 | Visada | 2 ligose |
| MICU1mitochondrial calcium uptake 1 | Visada | 1 ligoje |
| NHSNHS actin remodeling regulator | Visada | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 2 ligose |
| RYR3ryanodine receptor 3 | Visada | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Visada | 1 ligoje |
| TRAIPTRAF interacting protein | Visada | 2 ligose |
| TSPAN7tetraspanin 7 | Visada | 1 ligoje |
| ATRATR checkpoint kinase | Labai dažnai (80–99%) | 1 ligoje |
| ATRIPATR interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Labai dažnai (80–99%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Labai dažnai (80–99%) | 1 ligoje |
| CENPEcentromere protein E | Labai dažnai (80–99%) | 1 ligoje |
| CEP152centrosomal protein 152 | Labai dažnai (80–99%) | 1 ligoje |
| CEP295centrosomal protein 295 | Labai dažnai (80–99%) | 1 ligoje |
| CEP63centrosomal protein 63 | Labai dažnai (80–99%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| CPAPcentrosome assembly and centriole elongation protein | Labai dažnai (80–99%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Labai dažnai (80–99%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Labai dažnai (80–99%) | 1 ligoje |
| ELNelastin | Labai dažnai (80–99%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Labai dažnai (80–99%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| LMNAlamin A/C | Labai dažnai (80–99%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Labai dažnai (80–99%) | 1 ligoje |
| METTL27methyltransferase like 27 | Labai dažnai (80–99%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NFIXnuclear factor I X | Labai dažnai (80–99%) | 2 ligose |
| NINninein | Labai dažnai (80–99%) | 1 ligoje |
| NOTCH3notch receptor 3 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 74 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Labai dažnai (80–99%) | 2 ligose |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Labai dažnai (80–99%) | 1 ligoje |
| NUP85nucleoporin 85 | Labai dažnai (80–99%) | 1 ligoje |
| PAX3paired box 3 | Labai dažnai (80–99%) | 1 ligoje |
| PCNTpericentrin | Labai dažnai (80–99%) | 1 ligoje |
| PLK4polo like kinase 4 | Labai dažnai (80–99%) | 1 ligoje |
| PQBP1polyglutamine binding protein 1 | Labai dažnai (80–99%) | 4 ligose |
| RAB23RAB23, member RAS oncogene family | Labai dažnai (80–99%) | 1 ligoje |
| RBBP8RB binding protein 8, endonuclease | Labai dažnai (80–99%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Labai dažnai (80–99%) | 2 ligose |
| STX1Asyntaxin 1A | Labai dažnai (80–99%) | 1 ligoje |
| TBL2transducin beta like 2 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Labai dažnai (80–99%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Labai dažnai (80–99%) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Dažnai (30–79%) | 3 ligose |
| ANTXR2ANTXR cell adhesion molecule 2 | Dažnai (30–79%) | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Dažnai (30–79%) | 1 ligoje |
| BCORBCL6 corepressor | Dažnai (30–79%) | 2 ligose |
| BLMBLM RecQ like helicase | Dažnai (30–79%) | 2 ligose |
| CENPTcentromere protein T | Dažnai (30–79%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Dažnai (30–79%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Dažnai (30–79%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Dažnai (30–79%) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Dažnai (30–79%) | 1 ligoje |
| SEMA3Esemaphorin 3E | Dažnai (30–79%) | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Dažnai (30–79%) | 1 ligoje |
| SMSspermine synthase | Dažnai (30–79%) | 1 ligoje |
| STEEP1STING1 ER exit protein 1 | Dažnai (30–79%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TNNI2troponin I2, fast skeletal type | Dažnai (30–79%) | 1 ligoje |
| TNNT3troponin T3, fast skeletal type | Dažnai (30–79%) | 1 ligoje |
| TPM2tropomyosin 2 | Dažnai (30–79%) | 3 ligose |
| UBE3Bubiquitin protein ligase E3B | Dažnai (30–79%) | 2 ligose |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Dažnai (30–79%) | 2 ligose |
| WRNWRN RecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| ZDHHC9zDHHC palmitoyltransferase 9 | Dažnai (30–79%) | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Kartais (5–29%) | 1 ligoje |
| CFL2cofilin 2 | Kartais (5–29%) | 1 ligoje |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Kartais (5–29%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| KBTBD13kelch repeat and BTB domain containing 13 | Kartais (5–29%) | 1 ligoje |
| KLHL41kelch like family member 41 | Kartais (5–29%) | 2 ligose |
| KMT2Dlysine methyltransferase 2D | Kartais (5–29%) | 1 ligoje |
| LMOD3leiomodin 3 | Kartais (5–29%) | 1 ligoje |
| MYPNmyopalladin | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 2 ligose |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 1 ligoje |
| RECQL4RecQ like helicase 4 | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 1 ligoje |
| STRADASTE20 related adaptor alpha | Kartais (5–29%) | 1 ligoje |
| TPM3tropomyosin 3 | Kartais (5–29%) | 3 ligose |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Neužfiksuota | 1 ligoje |
| ATP7AATPase copper transporting alpha | Neužfiksuota | 1 ligoje |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Neužfiksuota | 1 ligoje |
| DSTYKdual serine/threonine and tyrosine protein kinase | Neužfiksuota | 1 ligoje |
| FBN1fibrillin 1 | Neužfiksuota | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Neužfiksuota | 1 ligoje |
| MTM1myotubularin 1 | Neužfiksuota | 1 ligoje |
| NGLY1N-glycanase 1 | Neužfiksuota | 1 ligoje |
| NOGnoggin | Neužfiksuota | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Neužfiksuota | 1 ligoje |
| PBX1PBX homeobox 1 | Neužfiksuota | 1 ligoje |
| RLIMring finger protein, LIM domain interacting | Neužfiksuota | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Neužfiksuota | 1 ligoje |
| SIX1SIX homeobox 1 | Neužfiksuota | 1 ligoje |
| SLC6A8solute carrier family 6 member 8 | Neužfiksuota | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Neužfiksuota | 1 ligoje |
| TUBB4Atubulin beta 4A class IVa | 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.
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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