Træk
Abnormally shaped ears
Klinisk navn: Abnormal pinna morphology
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Resumé
- Også kaldet
- 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
- Kropssystem
- Abnormality of the ear
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test176 gener knyttet til Abnormally shaped ears
Ændringer i disse gener forårsager sjældne tilstande, hvor Abnormally shaped ears ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ARID1AAT-rich interaction domain 1A | Altid | I 1 tilstand |
| CACHD1cache domain containing 1 | Altid | I 1 tilstand |
| DOCK7dedicator of cytokinesis 7 | Altid | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Altid | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Altid | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Altid | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Altid | I 1 tilstand |
| VSX1visual system homeobox 1 | Altid | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Meget ofte (80–99 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Meget ofte (80–99 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Meget ofte (80–99 %) | I 1 tilstand |
| DACT1dishevelled binding antagonist of beta catenin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Meget ofte (80–99 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Meget ofte (80–99 %) | I 1 tilstand |
| EIF4A3eukaryotic translation initiation factor 4A3 | Meget ofte (80–99 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Meget ofte (80–99 %) | I 1 tilstand |
| FLNAfilamin A | Meget ofte (80–99 %) | I 1 tilstand |
| IGBP1immunoglobulin binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Meget ofte (80–99 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Meget ofte (80–99 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Meget ofte (80–99 %) | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Meget ofte (80–99 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ANK1ankyrin 1 | Ofte (30–79 %) | I 1 tilstand |
Vis 136 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 2 tilstande |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 2 tilstande |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DLX5distal-less homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Ofte (30–79 %) | I 1 tilstand |
| EDN1endothelin 1 | Ofte (30–79 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 2 tilstande |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Ofte (30–79 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Ofte (30–79 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Ofte (30–79 %) | I 3 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Ofte (30–79 %) | I 2 tilstande |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| GNAI3G protein subunit alpha i3 | Ofte (30–79 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| HOXA2homeobox A2 | Ofte (30–79 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ofte (30–79 %) | I 1 tilstand |
| KLF13KLF transcription factor 13 | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 1 tilstand |
| MSL3MSL complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| NIPA1NIPA magnesium transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | Ofte (30–79 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Ofte (30–79 %) | I 1 tilstand |
| RNF2ring finger protein 2 | Ofte (30–79 %) | I 1 tilstand |
| SIX1SIX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| SIX5SIX homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| TBX15T-box transcription factor 15 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Ofte (30–79 %) | I 1 tilstand |
| TUBG1tubulin gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| BLNKB cell linker | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CD79ACD79a molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CD79BCD79b molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CHN1chimerin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CNOT1CCR4-NOT transcription complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| COLEC10collectin subfamily member 10 | Nogle gange (5–29 %) | I 2 tilstande |
| COLEC11collectin subfamily member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| CTHcystathionine gamma-lyase | Nogle gange (5–29 %) | I 1 tilstand |
| DSPdesmoplakin | Nogle gange (5–29 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Nogle gange (5–29 %) | I 2 tilstande |
| FAAP100FA core complex associated protein 100 | Nogle gange (5–29 %) | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Nogle gange (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Nogle gange (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Nogle gange (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Nogle gange (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Nogle gange (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Nogle gange (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Nogle gange (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Nogle gange (5–29 %) | I 1 tilstand |
| FRMPD4FERM and PDZ domain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| IGHMimmunoglobulin heavy constant mu | Nogle gange (5–29 %) | I 1 tilstand |
| IGLL1immunoglobulin lambda like polypeptide 1 | Nogle gange (5–29 %) | I 1 tilstand |
| JUPjunction plakoglobin | Nogle gange (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Nogle gange (5–29 %) | I 1 tilstand |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Nogle gange (5–29 %) | I 2 tilstande |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Nogle gange (5–29 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Nogle gange (5–29 %) | I 1 tilstand |
| SPI1Spi-1 proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF3transcription factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TP63tumor protein p63 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBBtubulin beta class I | Nogle gange (5–29 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Sjældent (1–4%) | I 2 tilstande |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Sjældent (1–4%) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Sjældent (1–4%) | I 1 tilstand |
| ACTG1actin gamma 1 | Ikke registreret | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Ikke registreret | I 1 tilstand |
| ATRATR checkpoint kinase | Ikke registreret | I 1 tilstand |
| B9D2B9 domain containing 2 | Ikke registreret | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ikke registreret | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Ikke registreret | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Ikke registreret | I 1 tilstand |
| CUL4Bcullin 4B | Ikke registreret | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registreret | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ikke registreret | I 1 tilstand |
| ETFAelectron transfer flavoprotein subunit alpha | Ikke registreret | I 1 tilstand |
| ETFBelectron transfer flavoprotein subunit beta | Ikke registreret | I 1 tilstand |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ikke registreret | I 1 tilstand |
| INTUinturned planar cell polarity protein | Ikke registreret | I 1 tilstand |
| KDM5Blysine demethylase 5B | Ikke registreret | I 1 tilstand |
| MEOX1mesenchyme homeobox 1 | Ikke registreret | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Ikke registreret | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ikke registreret | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registreret | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Ikke registreret | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ikke registreret | I 1 tilstand |
| PTF1Apancreas associated transcription factor 1a | Ikke registreret | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| SKISKI proto-oncogene | Ikke registreret | I 1 tilstand |
| SMSspermine synthase | Ikke registreret | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ikke registreret | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Ikke registreret | I 1 tilstand |
| WNT7AWnt family member 7A | Ikke registreret | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Snævrere træk
- Large ears280 gener
- Prominent ear226 gener
- Cupped ear79 gener
- Simple ear32 gener
- Abnormal earlobe29 gener
- Abnormal helix morphology26 gener
- Abnormal antihelix morphology15 gener
- Thickened ears11 gener
- Lop ear9 gener
- Long ear7 gener
- Round ear7 gener
- Crumpled ear6 gener
- Abnormal tragus morphology4 gener
- Absent/small external ear4 gener
- Calcification of the auricular cartilage4 gener
- Question mark ear4 gener
- Abnormal antitragus morphology3 gener
- Short ear3 gener
- Satyr ear2 gener
- Auricular pit1 gen
- Auricular tag1 gen
- Chondritis of pinna1 gen
- Cystic lesions of the pinnae1 gen
- Deformed external ear on one side1 gen
- Extra concha fold1 gen
- Hypertrophic auricular cartilage1 gen
- Abnormal external ear cartilage morphology
- Abnormal location of ears
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger