Tunnus
Abnormally shaped ears
Kliiniline nimetus: Abnormal pinna morphology
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Kokkuvõte
- Teised nimetused
- Auricular malformation, Deformed ears, Malformed ears, Abnormal form of ears, Deformed auricles, Dysplastic ears, Malformation of auricle, Malformed auricles, Malformed external ears, Minor malformation of the auricles, Poorly defined conchae
- Kehasüsteem
- Abnormality of the ear
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Abnormally shaped ears, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test176 geeni on seotud tunnusega Abnormally shaped ears
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormally shaped ears. 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 |
|---|---|---|
| ARID1AAT-rich interaction domain 1A | Alati | Esineb 1 haiguses |
| CACHD1cache domain containing 1 | Alati | Esineb 1 haiguses |
| DOCK7dedicator of cytokinesis 7 | Alati | Esineb 1 haiguses |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Alati | Esineb 1 haiguses |
| MN1MN1 proto-oncogene, transcriptional regulator | Alati | Esineb 1 haiguses |
| SF3B4splicing factor 3b subunit 4 | Alati | Esineb 1 haiguses |
| TCOF1treacle ribosome biogenesis factor 1 | Alati | Esineb 1 haiguses |
| VSX1visual system homeobox 1 | Alati | Esineb 1 haiguses |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CCBE1collagen and calcium binding EGF domains 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DACT1dishevelled binding antagonist of beta catenin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DDX3XDEAD-box helicase 3 X-linked | Väga sageli (80–99%) | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Väga sageli (80–99%) | Esineb 1 haiguses |
| EIF4A3eukaryotic translation initiation factor 4A3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FAT4FAT atypical cadherin 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FLNAfilamin A | Väga sageli (80–99%) | Esineb 1 haiguses |
| IGBP1immunoglobulin binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SALL1spalt like transcription factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEMA3Esemaphorin 3E | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Väga sageli (80–99%) | Esineb 1 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| ANK1ankyrin 1 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 136 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ARID1BAT-rich interaction domain 1B | Sageli (30–79%) | Esineb 2 haiguses |
| BCORBCL6 corepressor | Sageli (30–79%) | Esineb 2 haiguses |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Sageli (30–79%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CTBP1C-terminal binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DLX5distal-less homeobox 5 | Sageli (30–79%) | Esineb 1 haiguses |
| DONSONDNA replication fork stabilization factor DONSON | Sageli (30–79%) | Esineb 1 haiguses |
| EDN1endothelin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FGF10fibroblast growth factor 10 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Sageli (30–79%) | Esineb 3 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Sageli (30–79%) | Esineb 2 haiguses |
| FGFRL1fibroblast growth factor receptor like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| FRAS1Fraser extracellular matrix complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FREM2FRAS1 related extracellular matrix 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GNAI3G protein subunit alpha i3 | Sageli (30–79%) | Esineb 1 haiguses |
| GRIP1glutamate receptor interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HOXA2homeobox A2 | Sageli (30–79%) | Esineb 1 haiguses |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Sageli (30–79%) | Esineb 1 haiguses |
| KLF13KLF transcription factor 13 | Sageli (30–79%) | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Sageli (30–79%) | Esineb 1 haiguses |
| MSL3MSL complex subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sageli (30–79%) | Esineb 2 haiguses |
| NIPA1NIPA magnesium transporter 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NIPA2NIPA magnesium transporter 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PLCB4phospholipase C beta 4 | Sageli (30–79%) | Esineb 1 haiguses |
| RNF2ring finger protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SIX1SIX homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SIX5SIX homeobox 5 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX15T-box transcription factor 15 | Sageli (30–79%) | Esineb 1 haiguses |
| TRAPPC9trafficking protein particle complex subunit 9 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBG1tubulin gamma 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| VAC14VAC14 component of PIKFYVE complex | Sageli (30–79%) | Esineb 1 haiguses |
| WFS1wolframin ER transmembrane glycoprotein | Sageli (30–79%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| BLNKB cell linker | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCA1BRCA1 DNA repair associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCA2BRCA2 DNA repair associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRIP1BRCA1 interacting DNA helicase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CD79ACD79a molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| CD79BCD79b molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHN1chimerin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNOT1CCR4-NOT transcription complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COLEC10collectin subfamily member 10 | Mõnikord (5–29%) | Esineb 2 haiguses |
| COLEC11collectin subfamily member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTHcystathionine gamma-lyase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DSPdesmoplakin | Mõnikord (5–29%) | Esineb 1 haiguses |
| EMC1ER membrane protein complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERLIN2ER lipid raft associated 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FAAP100FA core complex associated protein 100 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM20CFAM20C golgi associated secretory pathway kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCAFA complementation group A | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCBFA complementation group B | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCCFA complementation group C | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCD2FA complementation group D2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCEFA complementation group E | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCFFA complementation group F | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCGFA complementation group G | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCIFA complementation group I | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCLFA complementation group L | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCMFA complementation group M | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRMPD4FERM and PDZ domain containing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IGHMimmunoglobulin heavy constant mu | Mõnikord (5–29%) | Esineb 1 haiguses |
| IGLL1immunoglobulin lambda like polypeptide 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JUPjunction plakoglobin | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAD2L2mitotic arrest deficient 2 like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFBMAF bZIP transcription factor B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPRE2microtubule associated protein RP/EB family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MASP1MBL associated serine protease 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PALB2partner and localizer of BRCA2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PMM2phosphomannomutase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Mõnikord (5–29%) | Esineb 2 haiguses |
| PURApurine rich element binding protein A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAD51RAD51 recombinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAD51CRAD51 paralog C | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RBMXRNA binding motif protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFWD3ring finger and WD repeat domain 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SALL4spalt like transcription factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLX4SLX4 structure-specific endonuclease subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPI1Spi-1 proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCF3transcription factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TP63tumor protein p63 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBBtubulin beta class I | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWIST2twist family bHLH transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE2Tubiquitin conjugating enzyme E2 T | Mõnikord (5–29%) | Esineb 1 haiguses |
| XRCC2X-ray repair cross complementing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EBPEBP cholestenol delta-isomerase | Harva (1–4%) | Esineb 2 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Harva (1–4%) | Esineb 1 haiguses |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Harva (1–4%) | Esineb 1 haiguses |
| ACTG1actin gamma 1 | Pole registreeritud | Esineb 1 haiguses |
| AMPD2adenosine monophosphate deaminase 2 | Pole registreeritud | Esineb 1 haiguses |
| ATRATR checkpoint kinase | Pole registreeritud | Esineb 1 haiguses |
| B9D2B9 domain containing 2 | Pole registreeritud | Esineb 1 haiguses |
| BICD2BICD cargo adaptor 2 | Pole registreeritud | Esineb 1 haiguses |
| CDK10cyclin dependent kinase 10 | Pole registreeritud | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| CUL4Bcullin 4B | Pole registreeritud | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Pole registreeritud | Esineb 1 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Pole registreeritud | Esineb 1 haiguses |
| ETFAelectron transfer flavoprotein subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| ETFBelectron transfer flavoprotein subunit beta | Pole registreeritud | Esineb 1 haiguses |
| ETFDHelectron transfer flavoprotein dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| INTUinturned planar cell polarity protein | Pole registreeritud | Esineb 1 haiguses |
| KDM5Blysine demethylase 5B | Pole registreeritud | Esineb 1 haiguses |
| MEOX1mesenchyme homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| ORC4origin recognition complex subunit 4 | Pole registreeritud | Esineb 1 haiguses |
| OTUD6BOTU deubiquitinase 6B | Pole registreeritud | Esineb 1 haiguses |
| PBX1PBX homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Pole registreeritud | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Pole registreeritud | Esineb 1 haiguses |
| PTF1Apancreas associated transcription factor 1a | Pole registreeritud | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| SKISKI proto-oncogene | Pole registreeritud | Esineb 1 haiguses |
| SMSspermine synthase | Pole registreeritud | Esineb 1 haiguses |
| UBE3Bubiquitin protein ligase E3B | Pole registreeritud | Esineb 1 haiguses |
| WACWW domain containing adaptor with coiled-coil | Pole registreeritud | Esineb 1 haiguses |
| WNT7AWnt family member 7A | Pole registreeritud | Esineb 1 haiguses |
| ZBTB18zinc finger and BTB domain containing 18 | 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.
Kitsamad tunnused
- Large ears280 geeni
- Prominent ear226 geeni
- Cupped ear79 geeni
- Simple ear32 geeni
- Abnormal earlobe29 geeni
- Abnormal helix morphology26 geeni
- Abnormal antihelix morphology15 geeni
- Thickened ears11 geeni
- Lop ear9 geeni
- Long ear7 geeni
- Round ear7 geeni
- Crumpled ear6 geeni
- Abnormal tragus morphology4 geeni
- Absent/small external ear4 geeni
- Calcification of the auricular cartilage4 geeni
- Question mark ear4 geeni
- Abnormal antitragus morphology3 geeni
- Short ear3 geeni
- Satyr ear2 geeni
- Auricular pit1 geen
- Auricular tag1 geen
- Chondritis of pinna1 geen
- Cystic lesions of the pinnae1 geen
- Deformed external ear on one side1 geen
- Extra concha fold1 geen
- Hypertrophic auricular cartilage1 geen
- Abnormal external ear cartilage morphology
- Abnormal location of ears
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