Tunnus
Small ears
Kliiniline nimetus: Microtia
Underdevelopment of the external ear.
Kokkuvõte
- Teised nimetused
- Underdeveloped ears, Bilateral microtia, Hypoplasia of the external ear, Hypoplastic ears, Hypoplastic pinna, Small pinnae
- Kehasüsteem
- Abnormality of the ear
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Small ears, and the rest of your genome, with one test.
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Telli oma Genome Test197 geeni on seotud tunnusega Small ears
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Small 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 |
|---|---|---|
| CDC6cell division cycle 6 | Alati | Esineb 1 haiguses |
| CDT1chromatin licensing and DNA replication factor 1 | Alati | Esineb 1 haiguses |
| CPAPcentrosome assembly and centriole elongation protein | Alati | Esineb 1 haiguses |
| DACT1dishevelled binding antagonist of beta catenin 1 | Alati | Esineb 2 haiguses |
| DCHS1dachsous cadherin-related 1 | Alati | Esineb 2 haiguses |
| DONSONDNA replication fork stabilization factor DONSON | Alati | Esineb 1 haiguses |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alati | Esineb 1 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| FAT4FAT atypical cadherin 4 | Alati | Esineb 3 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Alati | Esineb 3 haiguses |
| FOXI3forkhead box I3 | Alati | Esineb 1 haiguses |
| GINS3GINS complex subunit 3 | Alati | Esineb 1 haiguses |
| GMNNgeminin DNA replication inhibitor | Alati | Esineb 1 haiguses |
| HOXA2homeobox A2 | Alati | Esineb 2 haiguses |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alati | Esineb 1 haiguses |
| HSPA9heat shock protein family A (Hsp70) member 9 | Alati | Esineb 1 haiguses |
| ITGA6integrin subunit alpha 6 | Alati | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Alati | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Alati | Esineb 2 haiguses |
| LMNAlamin A/C | Alati | Esineb 1 haiguses |
| MAP1Bmicrotubule associated protein 1B | Alati | Esineb 1 haiguses |
| MCM5minichromosome maintenance complex component 5 | Alati | Esineb 1 haiguses |
| NINninein | Alati | Esineb 2 haiguses |
| ORC1origin recognition complex subunit 1 | Alati | Esineb 1 haiguses |
| ORC4origin recognition complex subunit 4 | Alati | Esineb 1 haiguses |
| ORC6origin recognition complex subunit 6 | Alati | Esineb 1 haiguses |
| PLECplectin | Alati | Esineb 2 haiguses |
| POLR1CRNA polymerase I and III subunit C | Alati | Esineb 2 haiguses |
| PRIM1DNA primase subunit 1 | Alati | Esineb 1 haiguses |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Alati | Esineb 2 haiguses |
| RIPK4receptor interacting serine/threonine kinase 4 | Alati | Esineb 1 haiguses |
| RPS28ribosomal protein S28 | Alati | Esineb 2 haiguses |
| SALL1spalt like transcription factor 1 | Alati | Esineb 2 haiguses |
| SIAH1siah E3 ubiquitin protein ligase 1 | Alati | Esineb 1 haiguses |
| STAG2STAG2 cohesin complex component | Alati | Esineb 2 haiguses |
| TAF4TATA-box binding protein associated factor 4 | Alati | Esineb 1 haiguses |
| TSR2TSR2 ribosome maturation factor | Alati | Esineb 2 haiguses |
| UBAP2Lubiquitin associated protein 2 like | Alati | Esineb 1 haiguses |
| ZSCAN10zinc finger and SCAN domain containing 10 | Alati | Esineb 1 haiguses |
| AGAaspartylglucosaminidase | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 157 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CDC45cell division cycle 45 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CTBP1C-terminal binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DHODHdihydroorotate dehydrogenase (quinone) | Väga sageli (80–99%) | Esineb 1 haiguses |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FGF3fibroblast growth factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCTD1potassium channel tetramerization domain containing 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| LAS1LLAS1 like ribosome biogenesis factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NELFAnegative elongation factor complex member A | Väga sageli (80–99%) | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Väga sageli (80–99%) | Esineb 1 haiguses |
| POLA1DNA polymerase alpha 1, catalytic subunit | Väga sageli (80–99%) | Esineb 2 haiguses |
| RSPO2R-spondin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SF3B4splicing factor 3b subunit 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBX4T-box transcription factor 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TWIST2twist family bHLH transcription factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WNT3Wnt family member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BPTFbromodomain PHD finger transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| CACHD1cache domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COG1component of oligomeric golgi complex 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EDNRAendothelin receptor type A | Sageli (30–79%) | Esineb 1 haiguses |
| FAAP100FA core complex associated protein 100 | Sageli (30–79%) | Esineb 1 haiguses |
| FANCFFA complementation group F | Sageli (30–79%) | Esineb 1 haiguses |
| FANCLFA complementation group L | Sageli (30–79%) | Esineb 1 haiguses |
| FGF10fibroblast growth factor 10 | Sageli (30–79%) | Esineb 2 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Sageli (30–79%) | Esineb 4 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| GLI3GLI family zinc finger 3 | Sageli (30–79%) | Esineb 2 haiguses |
| HYAL2hyaluronidase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Sageli (30–79%) | Esineb 2 haiguses |
| MAN2C1mannosidase alpha class 2C member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Sageli (30–79%) | Esineb 2 haiguses |
| MEG3maternally expressed 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PCGF2polycomb group ring finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| POLR1BRNA polymerase I subunit B | Sageli (30–79%) | Esineb 1 haiguses |
| POLR1DRNA polymerase I and III subunit D | Sageli (30–79%) | Esineb 2 haiguses |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Sageli (30–79%) | Esineb 1 haiguses |
| RECQLRecQ like helicase | Sageli (30–79%) | Esineb 1 haiguses |
| RIC1RIC1 partner of RAB6A GEF complex | Sageli (30–79%) | Esineb 1 haiguses |
| RPS26ribosomal protein S26 | Sageli (30–79%) | Esineb 2 haiguses |
| RTL1retrotransposon Gag like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SF3B2splicing factor 3b subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SPOPspeckle type BTB/POZ protein | Sageli (30–79%) | Esineb 1 haiguses |
| TCOF1treacle ribosome biogenesis factor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Sageli (30–79%) | Esineb 3 haiguses |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Sageli (30–79%) | Esineb 1 haiguses |
| ACTBactin beta | Mõnikord (5–29%) | 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 |
| BMP2bone morphogenetic protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CASZ1castor zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD5chromodomain helicase DNA binding protein 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DBR1debranching RNA lariats 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHRS3dehydrogenase/reductase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF5Aeukaryotic translation initiation factor 5A | Mõnikord (5–29%) | Esineb 1 haiguses |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Mõnikord (5–29%) | Esineb 3 haiguses |
| FBXO22F-box protein 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRAS1Fraser extracellular matrix complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FREM2FRAS1 related extracellular matrix 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIP1glutamate receptor interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HOXA13homeobox A13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITGB4integrin subunit beta 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF15kinesin family member 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LUZP1leucine zipper protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPRE2microtubule associated protein RP/EB family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMP23Bmatrix metallopeptidase 23B | Mõnikord (5–29%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDPNpodoplanin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1ARNA polymerase I subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRDM16PR/SET domain 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKCZprotein kinase C zeta | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAB34RAB34, member RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Mõnikord (5–29%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL17ribosomal protein L17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA3Esemaphorin 3E | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIM1SIM bHLH transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIX1SIX homeobox 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SIX5SIX homeobox 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC35C1solute carrier family 35 member C1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLF2SMC5/6 complex localization factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE4Bubiquitination factor E4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WBP4WW domain binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZMYM2zinc finger MYM-type containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADA2adenosine deaminase 2 | Harva (1–4%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| GATA1GATA binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| HEATR3HEAT repeat containing 3 | Harva (1–4%) | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| RPL11ribosomal protein L11 | Harva (1–4%) | Esineb 1 haiguses |
| RPL15ribosomal protein L15 | Harva (1–4%) | Esineb 1 haiguses |
| RPL18ribosomal protein L18 | Harva (1–4%) | Esineb 1 haiguses |
| RPL26ribosomal protein L26 | Harva (1–4%) | Esineb 1 haiguses |
| RPL27ribosomal protein L27 | Harva (1–4%) | Esineb 1 haiguses |
| RPL31ribosomal protein L31 | Harva (1–4%) | Esineb 1 haiguses |
| RPL35ribosomal protein L35 | Harva (1–4%) | Esineb 1 haiguses |
| RPL35Aribosomal protein L35a | Harva (1–4%) | Esineb 1 haiguses |
| RPL5ribosomal protein L5 | Harva (1–4%) | Esineb 1 haiguses |
| RPL8ribosomal protein L8 | Harva (1–4%) | Esineb 1 haiguses |
| RPL9ribosomal protein L9 | Harva (1–4%) | Esineb 1 haiguses |
| RPS10ribosomal protein S10 | Harva (1–4%) | Esineb 1 haiguses |
| RPS15Aribosomal protein S15a | Harva (1–4%) | Esineb 1 haiguses |
| RPS17ribosomal protein S17 | Harva (1–4%) | Esineb 1 haiguses |
| RPS19ribosomal protein S19 | Harva (1–4%) | Esineb 1 haiguses |
| RPS20ribosomal protein S20 | Harva (1–4%) | Esineb 1 haiguses |
| RPS24ribosomal protein S24 | Harva (1–4%) | Esineb 1 haiguses |
| RPS27ribosomal protein S27 | Harva (1–4%) | Esineb 1 haiguses |
| RPS29ribosomal protein S29 | Harva (1–4%) | Esineb 1 haiguses |
| RPS7ribosomal protein S7 | Harva (1–4%) | Esineb 1 haiguses |
| ZNF462zinc finger protein 462 | Harva (1–4%) | Esineb 1 haiguses |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Pole registreeritud | Esineb 1 haiguses |
| AMER1APC membrane recruitment protein 1 | Pole registreeritud | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Pole registreeritud | Esineb 2 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Pole registreeritud | Esineb 2 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Pole registreeritud | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Pole registreeritud | Esineb 1 haiguses |
| FKRPfukutin related protein | Pole registreeritud | Esineb 1 haiguses |
| FKTNfukutin | Pole registreeritud | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Pole registreeritud | Esineb 1 haiguses |
| INTUinturned planar cell polarity protein | Pole registreeritud | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| LMBRD1LMBR1 domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Pole registreeritud | Esineb 1 haiguses |
| MSX2msh homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
| PAK1p21 (RAC1) activated kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| PAM16presequence translocase associated motor 16 | Pole registreeritud | Esineb 1 haiguses |
| PBX1PBX homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| PCNTpericentrin | Pole registreeritud | Esineb 1 haiguses |
| POC1APOC1 centriolar protein A | Pole registreeritud | Esineb 1 haiguses |
| POLEDNA polymerase epsilon, catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| POMT2protein O-mannosyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| RBM10RNA binding motif protein 10 | Pole registreeritud | Esineb 1 haiguses |
| RSPRY1ring finger and SPRY domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| SKIC3SKI3 subunit of superkiller complex | Pole registreeritud | Esineb 1 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Pole registreeritud | Esineb 1 haiguses |
| TP63tumor protein p63 | 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
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