Požymis
Short thumb
Hypoplasia (congenital reduction in size) of the thumb.
Santrauka
- Taip pat vadinama
- Short thumbs, Small thumbs, Hypoplastic thumb, Hypoplastic thumbs, Hypoplastic/small thumb, Thumb brachydactyly, Thumb hypoplasia
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test104 genų susiję su Short thumb
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Short thumb. 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Visada | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Visada | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Visada | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Visada | 1 ligoje |
| HOXA13homeobox A13 | Visada | 3 ligose |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| RIPK4receptor interacting serine/threonine kinase 4 | Visada | 1 ligoje |
| RPL17ribosomal protein L17 | Visada | 1 ligoje |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Labai dažnai (80–99%) | 1 ligoje |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Labai dažnai (80–99%) | 1 ligoje |
| BHLHA9basic helix-loop-helix family member a9 | Labai dažnai (80–99%) | 1 ligoje |
| BMPR1Bbone morphogenetic protein receptor type 1B | Labai dažnai (80–99%) | 1 ligoje |
| EIF4A3eukaryotic translation initiation factor 4A3 | Labai dažnai (80–99%) | 1 ligoje |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 1 ligoje |
| FLNAfilamin A | Labai dažnai (80–99%) | 3 ligose |
| GDF5growth differentiation factor 5 | Labai dažnai (80–99%) | 3 ligose |
| IHHIndian hedgehog signaling molecule | Labai dažnai (80–99%) | 1 ligoje |
| LTBP2latent transforming growth factor beta binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| RBM8ARNA binding motif protein 8A | Labai dažnai (80–99%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | Labai dažnai (80–99%) | 4 ligose |
| TOP2BDNA topoisomerase II beta | Labai dažnai (80–99%) | 1 ligoje |
| ACANaggrecan | Dažnai (30–79%) | 2 ligose |
| APCAPC regulator of Wnt signaling pathway | Dažnai (30–79%) | 1 ligoje |
| CHST11carbohydrate sulfotransferase 11 | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 2 ligose |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 2 ligose |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| FANCD2FA complementation group D2 | Dažnai (30–79%) | 1 ligoje |
| FANCFFA complementation group F | Dažnai (30–79%) | 1 ligoje |
| FGF10fibroblast growth factor 10 | Dažnai (30–79%) | 2 ligose |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 2 ligose |
| LEF1lymphoid enhancer binding factor 1 | Dažnai (30–79%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 2 ligose |
| LMNB2lamin B2 | Dažnai (30–79%) | 1 ligoje |
| LRP4LDL receptor related protein 4 | Dažnai (30–79%) | 1 ligoje |
| MIR17HGmiR-17-92a-1 cluster host gene | Dažnai (30–79%) | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Dažnai (30–79%) | 2 ligose |
| NELFAnegative elongation factor complex member A | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 64 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| NSD2nuclear receptor binding SET domain protein 2 | Dažnai (30–79%) | 2 ligose |
| PALB2partner and localizer of BRCA2 | Dažnai (30–79%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Dažnai (30–79%) | 1 ligoje |
| PKDCCprotein kinase domain containing, cytoplasmic | Dažnai (30–79%) | 1 ligoje |
| RAD51CRAD51 paralog C | Dažnai (30–79%) | 1 ligoje |
| TBX5T-box transcription factor 5 | Dažnai (30–79%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Dažnai (30–79%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 1 ligoje |
| BCORBCL6 corepressor | Kartais (5–29%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Kartais (5–29%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRIP1BRCA1 interacting DNA helicase 1 | Kartais (5–29%) | 1 ligoje |
| FANCIFA complementation group I | Kartais (5–29%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Kartais (5–29%) | 1 ligoje |
| FGFRL1fibroblast growth factor receptor like 1 | Kartais (5–29%) | 1 ligoje |
| GATA1GATA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Kartais (5–29%) | 1 ligoje |
| KDM1Alysine demethylase 1A | Kartais (5–29%) | 2 ligose |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Kartais (5–29%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Kartais (5–29%) | 1 ligoje |
| RPL11ribosomal protein L11 | Kartais (5–29%) | 2 ligose |
| RPL15ribosomal protein L15 | Kartais (5–29%) | 1 ligoje |
| RPL18ribosomal protein L18 | Kartais (5–29%) | 1 ligoje |
| RPL26ribosomal protein L26 | Kartais (5–29%) | 1 ligoje |
| RPL27ribosomal protein L27 | Kartais (5–29%) | 1 ligoje |
| RPL31ribosomal protein L31 | Kartais (5–29%) | 1 ligoje |
| RPL35ribosomal protein L35 | Kartais (5–29%) | 1 ligoje |
| RPL35Aribosomal protein L35a | Kartais (5–29%) | 1 ligoje |
| RPL5ribosomal protein L5 | Kartais (5–29%) | 2 ligose |
| RPL8ribosomal protein L8 | Kartais (5–29%) | 1 ligoje |
| RPL9ribosomal protein L9 | Kartais (5–29%) | 1 ligoje |
| RPS10ribosomal protein S10 | Kartais (5–29%) | 1 ligoje |
| RPS15Aribosomal protein S15a | Kartais (5–29%) | 1 ligoje |
| RPS17ribosomal protein S17 | Kartais (5–29%) | 1 ligoje |
| RPS19ribosomal protein S19 | Kartais (5–29%) | 2 ligose |
| RPS20ribosomal protein S20 | Kartais (5–29%) | 1 ligoje |
| RPS24ribosomal protein S24 | Kartais (5–29%) | 1 ligoje |
| RPS26ribosomal protein S26 | Kartais (5–29%) | 1 ligoje |
| RPS27ribosomal protein S27 | Kartais (5–29%) | 1 ligoje |
| RPS28ribosomal protein S28 | Kartais (5–29%) | 1 ligoje |
| RPS29ribosomal protein S29 | Kartais (5–29%) | 1 ligoje |
| RPS7ribosomal protein S7 | Kartais (5–29%) | 1 ligoje |
| SF3B4splicing factor 3b subunit 4 | Kartais (5–29%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Kartais (5–29%) | 1 ligoje |
| SVBPsmall vasohibin binding protein | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| TSR2TSR2 ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| ZMYM2zinc finger MYM-type containing 2 | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Neužfiksuota | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Neužfiksuota | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Neužfiksuota | 1 ligoje |
| DHODHdihydroorotate dehydrogenase (quinone) | Neužfiksuota | 1 ligoje |
| FANCAFA complementation group A | Neužfiksuota | 1 ligoje |
| FANCEFA complementation group E | Neužfiksuota | 1 ligoje |
| MGPmatrix Gla protein | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Neužfiksuota | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Neužfiksuota | 1 ligoje |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | 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.
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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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