Træk
Small ears
Klinisk navn: Microtia
Underdevelopment of the external ear.
Resumé
- Også kaldet
- Underdeveloped ears, Bilateral microtia, Hypoplasia of the external ear, Hypoplastic ears, Hypoplastic pinna, Small pinnae
- Kropssystem
- Abnormality of the ear
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Read the genes linked to Small ears, and the rest of your genome, with one test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test197 gener knyttet til Small ears
Ændringer i disse gener forårsager sjældne tilstande, hvor Small 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 |
|---|---|---|
| CDC6cell division cycle 6 | Altid | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Altid | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Altid | I 1 tilstand |
| DACT1dishevelled binding antagonist of beta catenin 1 | Altid | I 2 tilstande |
| DCHS1dachsous cadherin-related 1 | Altid | I 2 tilstande |
| DONSONDNA replication fork stabilization factor DONSON | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Altid | I 3 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Altid | I 3 tilstande |
| FOXI3forkhead box I3 | Altid | I 1 tilstand |
| GINS3GINS complex subunit 3 | Altid | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Altid | I 1 tilstand |
| HOXA2homeobox A2 | Altid | I 2 tilstande |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Altid | I 1 tilstand |
| HSPA9heat shock protein family A (Hsp70) member 9 | Altid | I 1 tilstand |
| ITGA6integrin subunit alpha 6 | Altid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Altid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Altid | I 2 tilstande |
| LMNAlamin A/C | Altid | I 1 tilstand |
| MAP1Bmicrotubule associated protein 1B | Altid | I 1 tilstand |
| MCM5minichromosome maintenance complex component 5 | Altid | I 1 tilstand |
| NINninein | Altid | I 2 tilstande |
| ORC1origin recognition complex subunit 1 | Altid | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Altid | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Altid | I 1 tilstand |
| PLECplectin | Altid | I 2 tilstande |
| POLR1CRNA polymerase I and III subunit C | Altid | I 2 tilstande |
| PRIM1DNA primase subunit 1 | Altid | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altid | I 2 tilstande |
| RIPK4receptor interacting serine/threonine kinase 4 | Altid | I 1 tilstand |
| RPS28ribosomal protein S28 | Altid | I 2 tilstande |
| SALL1spalt like transcription factor 1 | Altid | I 2 tilstande |
| SIAH1siah E3 ubiquitin protein ligase 1 | Altid | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Altid | I 2 tilstande |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Altid | I 2 tilstande |
| UBAP2Lubiquitin associated protein 2 like | Altid | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Altid | I 1 tilstand |
| AGAaspartylglucosaminidase | Meget ofte (80–99 %) | I 1 tilstand |
Vis 157 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CDC45cell division cycle 45 | Meget ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DHODHdihydroorotate dehydrogenase (quinone) | Meget ofte (80–99 %) | I 1 tilstand |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Meget ofte (80–99 %) | I 2 tilstande |
| FGF3fibroblast growth factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Meget ofte (80–99 %) | I 2 tilstande |
| LAS1LLAS1 like ribosome biogenesis factor | Meget ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Meget ofte (80–99 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Meget ofte (80–99 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Meget ofte (80–99 %) | I 2 tilstande |
| RSPO2R-spondin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Meget ofte (80–99 %) | I 2 tilstande |
| TBX4T-box transcription factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| WNT3Wnt family member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 1 tilstand |
| CACHD1cache domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 2 tilstande |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| EDNRAendothelin receptor type A | Ofte (30–79 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Ofte (30–79 %) | I 1 tilstand |
| FANCFFA complementation group F | Ofte (30–79 %) | I 1 tilstand |
| FANCLFA complementation group L | Ofte (30–79 %) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Ofte (30–79 %) | I 2 tilstande |
| FGFR2fibroblast growth factor receptor 2 | Ofte (30–79 %) | I 4 tilstande |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 2 tilstande |
| HYAL2hyaluronidase 2 | Ofte (30–79 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 2 tilstande |
| MAN2C1mannosidase alpha class 2C member 1 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 2 tilstande |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ofte (30–79 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Ofte (30–79 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Ofte (30–79 %) | I 2 tilstande |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Ofte (30–79 %) | I 1 tilstand |
| RECQLRecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| RIC1RIC1 partner of RAB6A GEF complex | Ofte (30–79 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Ofte (30–79 %) | I 2 tilstande |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 1 tilstand |
| SF3B2splicing factor 3b subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Ofte (30–79 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Ofte (30–79 %) | I 2 tilstande |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 3 tilstande |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Ofte (30–79 %) | I 1 tilstand |
| ACTBactin beta | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD5chromodomain helicase DNA binding protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Nogle gange (5–29 %) | I 2 tilstande |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Nogle gange (5–29 %) | I 1 tilstand |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Nogle gange (5–29 %) | I 3 tilstande |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HOXA13homeobox A13 | Nogle gange (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ITGB4integrin subunit beta 4 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Nogle gange (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Nogle gange (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Nogle gange (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Nogle gange (5–29 %) | I 1 tilstand |
| RAB34RAB34, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Nogle gange (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL17ribosomal protein L17 | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Nogle gange (5–29 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIX1SIX homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SIX5SIX homeobox 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Nogle gange (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Sjældent (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| GATA1GATA binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Sjældent (1–4%) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| RPL11ribosomal protein L11 | Sjældent (1–4%) | I 1 tilstand |
| RPL15ribosomal protein L15 | Sjældent (1–4%) | I 1 tilstand |
| RPL18ribosomal protein L18 | Sjældent (1–4%) | I 1 tilstand |
| RPL26ribosomal protein L26 | Sjældent (1–4%) | I 1 tilstand |
| RPL27ribosomal protein L27 | Sjældent (1–4%) | I 1 tilstand |
| RPL31ribosomal protein L31 | Sjældent (1–4%) | I 1 tilstand |
| RPL35ribosomal protein L35 | Sjældent (1–4%) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Sjældent (1–4%) | I 1 tilstand |
| RPL5ribosomal protein L5 | Sjældent (1–4%) | I 1 tilstand |
| RPL8ribosomal protein L8 | Sjældent (1–4%) | I 1 tilstand |
| RPL9ribosomal protein L9 | Sjældent (1–4%) | I 1 tilstand |
| RPS10ribosomal protein S10 | Sjældent (1–4%) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Sjældent (1–4%) | I 1 tilstand |
| RPS17ribosomal protein S17 | Sjældent (1–4%) | I 1 tilstand |
| RPS19ribosomal protein S19 | Sjældent (1–4%) | I 1 tilstand |
| RPS20ribosomal protein S20 | Sjældent (1–4%) | I 1 tilstand |
| RPS24ribosomal protein S24 | Sjældent (1–4%) | I 1 tilstand |
| RPS27ribosomal protein S27 | Sjældent (1–4%) | I 1 tilstand |
| RPS29ribosomal protein S29 | Sjældent (1–4%) | I 1 tilstand |
| RPS7ribosomal protein S7 | Sjældent (1–4%) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Sjældent (1–4%) | I 1 tilstand |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Ikke registreret | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 2 tilstande |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registreret | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registreret | I 2 tilstande |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ikke registreret | I 1 tilstand |
| FBXO11F-box protein 11 | Ikke registreret | I 1 tilstand |
| FKRPfukutin related protein | Ikke registreret | I 1 tilstand |
| FKTNfukutin | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ikke registreret | I 1 tilstand |
| INTUinturned planar cell polarity protein | Ikke registreret | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ikke registreret | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Ikke registreret | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registreret | I 1 tilstand |
| MSX2msh homeobox 2 | Ikke registreret | I 1 tilstand |
| PAK1p21 (RAC1) activated kinase 1 | Ikke registreret | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registreret | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registreret | I 1 tilstand |
| PCNTpericentrin | Ikke registreret | I 1 tilstand |
| POC1APOC1 centriolar protein A | Ikke registreret | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Ikke registreret | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Ikke registreret | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Ikke registreret | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Ikke registreret | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Ikke registreret | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ikke registreret | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registreret | I 1 tilstand |
| TP63tumor protein p63 | 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
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