Tunnus
Short chin
Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Kokkuvõte
- Teised nimetused
- Decreased height of chin, Short lower third of face, Small chin, Vertical deficiency of chin, Vertical hypoplasia of chin
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Short chin, and the rest of your genome, with one test.
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Telli oma Genome Test77 geeni on seotud tunnusega Short chin
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Short chin. 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 |
|---|---|---|
| COA6cytochrome c oxidase assembly factor 6 | Alati | Esineb 1 haiguses |
| COL9A2collagen type IX alpha 2 chain | Alati | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Alati | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Alati | Esineb 1 haiguses |
| ITCHitchy E3 ubiquitin protein ligase | Alati | Esineb 2 haiguses |
| LMNAlamin A/C | Alati | Esineb 2 haiguses |
| MAN2B2mannosidase alpha class 2B member 2 | Alati | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Alati | Esineb 1 haiguses |
| PAPPA2pappalysin 2 | Alati | Esineb 1 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Alati | Esineb 1 haiguses |
| RPL17ribosomal protein L17 | Alati | Esineb 1 haiguses |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Alati | Esineb 1 haiguses |
| TAF4TATA-box binding protein associated factor 4 | Alati | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| H19H19 imprinted maternally expressed transcript | Väga sageli (80–99%) | Esineb 1 haiguses |
| IGF2insulin like growth factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTF1Apancreas associated transcription factor 1a | Väga sageli (80–99%) | Esineb 2 haiguses |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Sageli (30–79%) | Esineb 1 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CDK10cyclin dependent kinase 10 | Sageli (30–79%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Sageli (30–79%) | Esineb 1 haiguses |
| CYP26C1cytochrome P450 family 26 subfamily C member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DSTdystonin | Sageli (30–79%) | Esineb 2 haiguses |
| EBF3EBF transcription factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| MEF2Cmyocyte enhancer factor 2C | Sageli (30–79%) | Esineb 1 haiguses |
| MYOD1myogenic differentiation 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Sageli (30–79%) | Esineb 1 haiguses |
| PGBD5piggyBac transposable element derived 5 | Sageli (30–79%) | Esineb 1 haiguses |
| RNF13ring finger protein 13 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC26A2solute carrier family 26 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX11SRY-box transcription factor 11 | Sageli (30–79%) | Esineb 1 haiguses |
| VAC14VAC14 component of PIKFYVE complex | Sageli (30–79%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 37 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMPR1Abone morphogenetic protein receptor type 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Mõnikord (5–29%) | Esineb 3 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Mõnikord (5–29%) | Esineb 3 haiguses |
| FBXO31F-box protein 31 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRB10growth factor receptor bound protein 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAN1B1mannosidase alpha class 1B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NRCAMneuronal cell adhesion molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETSET nuclear proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLF2SMC5/6 complex localization factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| ZMPSTE24zinc metallopeptidase STE24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF292zinc finger protein 292 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Harva (1–4%) | Esineb 2 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Harva (1–4%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Pole registreeritud | Esineb 1 haiguses |
| EDAectodysplasin A | Pole registreeritud | Esineb 1 haiguses |
| FLNAfilamin A | Pole registreeritud | Esineb 1 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Pole registreeritud | Esineb 1 haiguses |
| NFIAnuclear factor I A | Pole registreeritud | Esineb 1 haiguses |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Pole registreeritud | Esineb 1 haiguses |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Pole registreeritud | Esineb 1 haiguses |
| XRCC4X-ray repair cross complementing 4 | Pole registreeritud | Esineb 1 haiguses |
| ZBTB24zinc finger and BTB domain containing 24 | 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