Požymis
Broad thumb
Increased thumb width without increased dorso-ventral dimension.
Santrauka
- Taip pat vadinama
- Broad thumbs, Wide/broad thumb, Broad phalanges of the thumb, Wide/broad thumb phalanges
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test93 genų susiję su Broad thumb
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Broad 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 |
|---|---|---|
| ACANaggrecan | Visada | 2 ligose |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| EXOSC2exosome component 2 | Visada | 1 ligoje |
| FLNAfilamin A | Visada | 3 ligose |
| GLI3GLI family zinc finger 3 | Visada | 4 ligose |
| HYAL2hyaluronidase 2 | Visada | 1 ligoje |
| MED12mediator complex subunit 12 | Visada | 2 ligose |
| MIR140microRNA 140 | Visada | 1 ligoje |
| NXNnucleoredoxin | Visada | 2 ligose |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Visada | 1 ligoje |
| SLC13A1solute carrier family 13 member 1 | Visada | 1 ligoje |
| SNIP1Smad nuclear interacting protein 1 | Visada | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Labai dažnai (80–99%) | 3 ligose |
| EP300EP300 lysine acetyltransferase | Labai dažnai (80–99%) | 3 ligose |
| FGFR1fibroblast growth factor receptor 1 | Labai dažnai (80–99%) | 3 ligose |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 7 ligose |
| FLNBfilamin B | Labai dažnai (80–99%) | 1 ligoje |
| GPC4glypican 4 | Labai dažnai (80–99%) | 3 ligose |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Labai dažnai (80–99%) | 2 ligose |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Labai dažnai (80–99%) | 2 ligose |
| NOGnoggin | Labai dažnai (80–99%) | 2 ligose |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Labai dažnai (80–99%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Dažnai (30–79%) | 2 ligose |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Dažnai (30–79%) | 2 ligose |
| FGF9fibroblast growth factor 9 | Dažnai (30–79%) | 2 ligose |
| FGFR3fibroblast growth factor receptor 3 | Dažnai (30–79%) | 2 ligose |
| GDF5growth differentiation factor 5 | Dažnai (30–79%) | 1 ligoje |
| GDF6growth differentiation factor 6 | Dažnai (30–79%) | 1 ligoje |
| GPC3glypican 3 | Dažnai (30–79%) | 2 ligose |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Dažnai (30–79%) | 1 ligoje |
| HPGD15-hydroxyprostaglandin dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Dažnai (30–79%) | 2 ligose |
| NSD1nuclear receptor binding SET domain protein 1 | Dažnai (30–79%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 2 ligose |
| PRKD1protein kinase D1 | Dažnai (30–79%) | 1 ligoje |
| PRKG2protein kinase cGMP-dependent 2 | Dažnai (30–79%) | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RBM8ARNA binding motif protein 8A | Dažnai (30–79%) | 2 ligose |
Rodyti dar 53 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ROR2ROR family WNT receptor 2 | Dažnai (30–79%) | 3 ligose |
| SALL1spalt like transcription factor 1 | Dažnai (30–79%) | 2 ligose |
| SATB2SATB homeobox 2 | Dažnai (30–79%) | 3 ligose |
| SIAH1siah E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Dažnai (30–79%) | 2 ligose |
| SRCAPSnf2 related CREBBP activator protein | Dažnai (30–79%) | 1 ligoje |
| SUMF1sulfatase modifying factor 1 | Dažnai (30–79%) | 2 ligose |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Dažnai (30–79%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Dažnai (30–79%) | 2 ligose |
| USP9Xubiquitin specific peptidase 9 X-linked | Dažnai (30–79%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| ZNF668zinc finger protein 668 | Dažnai (30–79%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Kartais (5–29%) | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Kartais (5–29%) | 1 ligoje |
| BMPR1Abone morphogenetic protein receptor type 1A | Kartais (5–29%) | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Kartais (5–29%) | 1 ligoje |
| BPTFbromodomain PHD finger transcription factor | Kartais (5–29%) | 1 ligoje |
| CBFBcore-binding factor subunit beta | Kartais (5–29%) | 1 ligoje |
| DACT1dishevelled binding antagonist of beta catenin 1 | Kartais (5–29%) | 1 ligoje |
| DHX30DExH-box helicase 30 | Kartais (5–29%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Kartais (5–29%) | 1 ligoje |
| GATA4GATA binding protein 4 | Kartais (5–29%) | 1 ligoje |
| H3-3AH3.3 histone A | Kartais (5–29%) | 1 ligoje |
| IFT56intraflagellar transport 56 | Kartais (5–29%) | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Kartais (5–29%) | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Kartais (5–29%) | 1 ligoje |
| LMBR1limb development membrane protein 1 | Kartais (5–29%) | 1 ligoje |
| MAN2C1mannosidase alpha class 2C member 1 | Kartais (5–29%) | 1 ligoje |
| PACS1phosphofurin acidic cluster sorting protein 1 | Kartais (5–29%) | 1 ligoje |
| PCDHGC4protocadherin gamma subfamily C, 4 | Kartais (5–29%) | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Kartais (5–29%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Kartais (5–29%) | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Kartais (5–29%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 2 ligose |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Kartais (5–29%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC6A11solute carrier family 6 member 11 | Kartais (5–29%) | 1 ligoje |
| SMOC1SPARC related modular calcium binding 1 | Kartais (5–29%) | 1 ligoje |
| TBX5T-box transcription factor 5 | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Retai (1–4 %) | 1 ligoje |
| ALX4ALX homeobox 4 | Retai (1–4 %) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| MSX2msh homeobox 2 | Retai (1–4 %) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Neužfiksuota | 1 ligoje |
| EEDembryonic ectoderm development | Neužfiksuota | 1 ligoje |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Neužfiksuota | 1 ligoje |
| MEIS2Meis homeobox 2 | Neužfiksuota | 1 ligoje |
| RLIMring finger protein, LIM domain interacting | Neužfiksuota | 1 ligoje |
| WNT5AWnt family member 5A | 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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