Požymis
Small ears
Klinikinis pavadinimas: Microtia
Underdevelopment of the external ear.
Santrauka
- Taip pat vadinama
- Underdeveloped ears, Bilateral microtia, Hypoplasia of the external ear, Hypoplastic ears, Hypoplastic pinna, Small pinnae
- Kūno sistema
- Abnormality of the ear
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test197 genų susiję su Small ears
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Small ears. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CDC6cell division cycle 6 | Visada | 1 ligoje |
| CDT1chromatin licensing and DNA replication factor 1 | Visada | 1 ligoje |
| CPAPcentrosome assembly and centriole elongation protein | Visada | 1 ligoje |
| DACT1dishevelled binding antagonist of beta catenin 1 | Visada | 2 ligose |
| DCHS1dachsous cadherin-related 1 | Visada | 2 ligose |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 1 ligoje |
| EIF4A2eukaryotic translation initiation factor 4A2 | Visada | 1 ligoje |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Visada | 3 ligose |
| FGFR3fibroblast growth factor receptor 3 | Visada | 3 ligose |
| FOXI3forkhead box I3 | Visada | 1 ligoje |
| GINS3GINS complex subunit 3 | Visada | 1 ligoje |
| GMNNgeminin DNA replication inhibitor | Visada | 1 ligoje |
| HOXA2homeobox A2 | Visada | 2 ligose |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Visada | 1 ligoje |
| HSPA9heat shock protein family A (Hsp70) member 9 | Visada | 1 ligoje |
| ITGA6integrin subunit alpha 6 | Visada | 1 ligoje |
| KDM6Alysine demethylase 6A | Visada | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Visada | 2 ligose |
| LMNAlamin A/C | Visada | 1 ligoje |
| MAP1Bmicrotubule associated protein 1B | Visada | 1 ligoje |
| MCM5minichromosome maintenance complex component 5 | Visada | 1 ligoje |
| NINninein | Visada | 2 ligose |
| ORC1origin recognition complex subunit 1 | Visada | 1 ligoje |
| ORC4origin recognition complex subunit 4 | Visada | 1 ligoje |
| ORC6origin recognition complex subunit 6 | Visada | 1 ligoje |
| PLECplectin | Visada | 2 ligose |
| POLR1CRNA polymerase I and III subunit C | Visada | 2 ligose |
| PRIM1DNA primase subunit 1 | Visada | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Visada | 2 ligose |
| RIPK4receptor interacting serine/threonine kinase 4 | Visada | 1 ligoje |
| RPS28ribosomal protein S28 | Visada | 2 ligose |
| SALL1spalt like transcription factor 1 | Visada | 2 ligose |
| SIAH1siah E3 ubiquitin protein ligase 1 | Visada | 1 ligoje |
| STAG2STAG2 cohesin complex component | Visada | 2 ligose |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| TSR2TSR2 ribosome maturation factor | Visada | 2 ligose |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| ZSCAN10zinc finger and SCAN domain containing 10 | Visada | 1 ligoje |
| AGAaspartylglucosaminidase | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 157 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CDC45cell division cycle 45 | Labai dažnai (80–99%) | 1 ligoje |
| CPLX1complexin 1 | Labai dažnai (80–99%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| DHODHdihydroorotate dehydrogenase (quinone) | Labai dažnai (80–99%) | 1 ligoje |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Labai dažnai (80–99%) | 2 ligose |
| FGF3fibroblast growth factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Labai dažnai (80–99%) | 2 ligose |
| LAS1LLAS1 like ribosome biogenesis factor | Labai dažnai (80–99%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| NELFAnegative elongation factor complex member A | Labai dažnai (80–99%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Labai dažnai (80–99%) | 1 ligoje |
| POLA1DNA polymerase alpha 1, catalytic subunit | Labai dažnai (80–99%) | 2 ligose |
| RSPO2R-spondin 2 | Labai dažnai (80–99%) | 1 ligoje |
| SF3B4splicing factor 3b subunit 4 | Labai dažnai (80–99%) | 2 ligose |
| TBX4T-box transcription factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| WNT3Wnt family member 3 | Labai dažnai (80–99%) | 1 ligoje |
| BPTFbromodomain PHD finger transcription factor | Dažnai (30–79%) | 1 ligoje |
| CACHD1cache domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Dažnai (30–79%) | 2 ligose |
| DLK1delta like non-canonical Notch ligand 1 | Dažnai (30–79%) | 1 ligoje |
| EDNRAendothelin receptor type A | Dažnai (30–79%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Dažnai (30–79%) | 1 ligoje |
| FANCFFA complementation group F | Dažnai (30–79%) | 1 ligoje |
| FANCLFA complementation group L | Dažnai (30–79%) | 1 ligoje |
| FGF10fibroblast growth factor 10 | Dažnai (30–79%) | 2 ligose |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 4 ligose |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 2 ligose |
| HYAL2hyaluronidase 2 | Dažnai (30–79%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Dažnai (30–79%) | 2 ligose |
| MAN2C1mannosidase alpha class 2C member 1 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 2 ligose |
| MEG3maternally expressed 3 | Dažnai (30–79%) | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Dažnai (30–79%) | 1 ligoje |
| POLR1BRNA polymerase I subunit B | Dažnai (30–79%) | 1 ligoje |
| POLR1DRNA polymerase I and III subunit D | Dažnai (30–79%) | 2 ligose |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Dažnai (30–79%) | 1 ligoje |
| RECQLRecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| RIC1RIC1 partner of RAB6A GEF complex | Dažnai (30–79%) | 1 ligoje |
| RPS26ribosomal protein S26 | Dažnai (30–79%) | 2 ligose |
| RTL1retrotransposon Gag like 1 | Dažnai (30–79%) | 1 ligoje |
| SF3B2splicing factor 3b subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Dažnai (30–79%) | 1 ligoje |
| TCOF1treacle ribosome biogenesis factor 1 | Dažnai (30–79%) | 2 ligose |
| TWIST1twist family bHLH transcription factor 1 | Dažnai (30–79%) | 3 ligose |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Dažnai (30–79%) | 1 ligoje |
| ACTBactin beta | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Kartais (5–29%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| CHD5chromodomain helicase DNA binding protein 5 | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Kartais (5–29%) | 2 ligose |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DHRS3dehydrogenase/reductase 3 | Kartais (5–29%) | 1 ligoje |
| EIF5Aeukaryotic translation initiation factor 5A | Kartais (5–29%) | 1 ligoje |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Kartais (5–29%) | 3 ligose |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| FREM2FRAS1 related extracellular matrix 2 | Kartais (5–29%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Kartais (5–29%) | 1 ligoje |
| GRIP1glutamate receptor interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Kartais (5–29%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| HOXA13homeobox A13 | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| ITGB4integrin subunit beta 4 | Kartais (5–29%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Kartais (5–29%) | 1 ligoje |
| KIF15kinesin family member 15 | Kartais (5–29%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| PDPNpodoplanin | Kartais (5–29%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Kartais (5–29%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Kartais (5–29%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Kartais (5–29%) | 1 ligoje |
| RAB34RAB34, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Kartais (5–29%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Kartais (5–29%) | 1 ligoje |
| RPL17ribosomal protein L17 | Kartais (5–29%) | 1 ligoje |
| SEMA3Esemaphorin 3E | Kartais (5–29%) | 1 ligoje |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SIX1SIX homeobox 1 | Kartais (5–29%) | 2 ligose |
| SIX5SIX homeobox 5 | Kartais (5–29%) | 1 ligoje |
| SKISKI proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SLC35C1solute carrier family 35 member C1 | Kartais (5–29%) | 1 ligoje |
| SLF2SMC5/6 complex localization factor 2 | Kartais (5–29%) | 1 ligoje |
| SMAD4SMAD family member 4 | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Kartais (5–29%) | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| WBP4WW domain binding protein 4 | Kartais (5–29%) | 1 ligoje |
| ZMYM2zinc finger MYM-type containing 2 | Kartais (5–29%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Retai (1–4 %) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| GATA1GATA binding protein 1 | Retai (1–4 %) | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Retai (1–4 %) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Retai (1–4 %) | 1 ligoje |
| RPL11ribosomal protein L11 | Retai (1–4 %) | 1 ligoje |
| RPL15ribosomal protein L15 | Retai (1–4 %) | 1 ligoje |
| RPL18ribosomal protein L18 | Retai (1–4 %) | 1 ligoje |
| RPL26ribosomal protein L26 | Retai (1–4 %) | 1 ligoje |
| RPL27ribosomal protein L27 | Retai (1–4 %) | 1 ligoje |
| RPL31ribosomal protein L31 | Retai (1–4 %) | 1 ligoje |
| RPL35ribosomal protein L35 | Retai (1–4 %) | 1 ligoje |
| RPL35Aribosomal protein L35a | Retai (1–4 %) | 1 ligoje |
| RPL5ribosomal protein L5 | Retai (1–4 %) | 1 ligoje |
| RPL8ribosomal protein L8 | Retai (1–4 %) | 1 ligoje |
| RPL9ribosomal protein L9 | Retai (1–4 %) | 1 ligoje |
| RPS10ribosomal protein S10 | Retai (1–4 %) | 1 ligoje |
| RPS15Aribosomal protein S15a | Retai (1–4 %) | 1 ligoje |
| RPS17ribosomal protein S17 | Retai (1–4 %) | 1 ligoje |
| RPS19ribosomal protein S19 | Retai (1–4 %) | 1 ligoje |
| RPS20ribosomal protein S20 | Retai (1–4 %) | 1 ligoje |
| RPS24ribosomal protein S24 | Retai (1–4 %) | 1 ligoje |
| RPS27ribosomal protein S27 | Retai (1–4 %) | 1 ligoje |
| RPS29ribosomal protein S29 | Retai (1–4 %) | 1 ligoje |
| RPS7ribosomal protein S7 | Retai (1–4 %) | 1 ligoje |
| ZNF462zinc finger protein 462 | Retai (1–4 %) | 1 ligoje |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Neužfiksuota | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 2 ligose |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Neužfiksuota | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Neužfiksuota | 2 ligose |
| CRPPACDP-L-ribitol pyrophosphorylase A | Neužfiksuota | 1 ligoje |
| FBXO11F-box protein 11 | Neužfiksuota | 1 ligoje |
| FKRPfukutin related protein | Neužfiksuota | 1 ligoje |
| FKTNfukutin | Neužfiksuota | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Neužfiksuota | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Neužfiksuota | 1 ligoje |
| INTUinturned planar cell polarity protein | Neužfiksuota | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Neužfiksuota | 1 ligoje |
| LMBRD1LMBR1 domain containing 1 | Neužfiksuota | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Neužfiksuota | 1 ligoje |
| MSX2msh homeobox 2 | Neužfiksuota | 1 ligoje |
| PAK1p21 (RAC1) activated kinase 1 | Neužfiksuota | 1 ligoje |
| PAM16presequence translocase associated motor 16 | Neužfiksuota | 1 ligoje |
| PBX1PBX homeobox 1 | Neužfiksuota | 1 ligoje |
| PCNTpericentrin | Neužfiksuota | 1 ligoje |
| POC1APOC1 centriolar protein A | Neužfiksuota | 1 ligoje |
| POLEDNA polymerase epsilon, catalytic subunit | Neužfiksuota | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Neužfiksuota | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Neužfiksuota | 1 ligoje |
| RBM10RNA binding motif protein 10 | Neužfiksuota | 1 ligoje |
| RSPRY1ring finger and SPRY domain containing 1 | Neužfiksuota | 1 ligoje |
| SKIC3SKI3 subunit of superkiller complex | Neužfiksuota | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Neužfiksuota | 1 ligoje |
| TP63tumor protein p63 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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