Požymis
Short chin
Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Santrauka
- Taip pat vadinama
- Decreased height of chin, Short lower third of face, Small chin, Vertical deficiency of chin, Vertical hypoplasia of chin
- 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 Test77 genų susiję su Short chin
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Short chin. 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 |
|---|---|---|
| COA6cytochrome c oxidase assembly factor 6 | Visada | 1 ligoje |
| COL9A2collagen type IX alpha 2 chain | Visada | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Visada | 1 ligoje |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Visada | 1 ligoje |
| ITCHitchy E3 ubiquitin protein ligase | Visada | 2 ligose |
| LMNAlamin A/C | Visada | 2 ligose |
| MAN2B2mannosidase alpha class 2B member 2 | Visada | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Visada | 1 ligoje |
| PAPPA2pappalysin 2 | Visada | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Visada | 1 ligoje |
| RPL17ribosomal protein L17 | Visada | 1 ligoje |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Labai dažnai (80–99%) | 1 ligoje |
| H19H19 imprinted maternally expressed transcript | Labai dažnai (80–99%) | 1 ligoje |
| IGF2insulin like growth factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| PTF1Apancreas associated transcription factor 1a | Labai dažnai (80–99%) | 2 ligose |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Dažnai (30–79%) | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Dažnai (30–79%) | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Dažnai (30–79%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Dažnai (30–79%) | 1 ligoje |
| CYP26C1cytochrome P450 family 26 subfamily C member 1 | Dažnai (30–79%) | 1 ligoje |
| DSTdystonin | Dažnai (30–79%) | 2 ligose |
| EBF3EBF transcription factor 3 | Dažnai (30–79%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Dažnai (30–79%) | 1 ligoje |
| MEF2Cmyocyte enhancer factor 2C | Dažnai (30–79%) | 1 ligoje |
| MYOD1myogenic differentiation 1 | Dažnai (30–79%) | 1 ligoje |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Dažnai (30–79%) | 1 ligoje |
| PGBD5piggyBac transposable element derived 5 | Dažnai (30–79%) | 1 ligoje |
| RNF13ring finger protein 13 | Dažnai (30–79%) | 2 ligose |
| SLC26A2solute carrier family 26 member 2 | Dažnai (30–79%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Dažnai (30–79%) | 1 ligoje |
| SOX11SRY-box transcription factor 11 | Dažnai (30–79%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 1 ligoje |
Rodyti dar 37 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Kartais (5–29%) | 1 ligoje |
| BMPR1Abone morphogenetic protein receptor type 1A | Kartais (5–29%) | 1 ligoje |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Kartais (5–29%) | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Kartais (5–29%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Kartais (5–29%) | 3 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Kartais (5–29%) | 3 ligose |
| FBXO31F-box protein 31 | Kartais (5–29%) | 1 ligoje |
| GRB10growth factor receptor bound protein 10 | Kartais (5–29%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Kartais (5–29%) | 1 ligoje |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| NRCAMneuronal cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Kartais (5–29%) | 1 ligoje |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Kartais (5–29%) | 1 ligoje |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Kartais (5–29%) | 1 ligoje |
| SETSET nuclear proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SLF2SMC5/6 complex localization factor 2 | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 2 ligose |
| ZMPSTE24zinc metallopeptidase STE24 | Kartais (5–29%) | 1 ligoje |
| ZNF292zinc finger protein 292 | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Retai (1–4 %) | 2 ligose |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Neužfiksuota | 1 ligoje |
| EDAectodysplasin A | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Neužfiksuota | 1 ligoje |
| NFIAnuclear factor I A | Neužfiksuota | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Neužfiksuota | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Neužfiksuota | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Neužfiksuota | 1 ligoje |
| ZBTB24zinc finger and BTB domain containing 24 | 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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