Kenmerk
Prominent ear
Klinische naam: Protruding ear
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Samenvatting
- Ook bekend als
- Prominent ears, Protruding ears, Otapostasis
- Lichaamssysteem
- Abnormality of the ear
ReferentiegenoomGRCh38hg38
Posities op gen- en variantpagina's volgen deze keuze, in deze browser.
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Prominent ear voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Altijd | In 2 aandoeningen |
| AMOTL1angiomotin like 1 | Altijd | In 1 aandoening |
| CCDC32coiled-coil domain containing 32 | Altijd | In 1 aandoening |
| CEP295centrosomal protein 295 | Altijd | In 1 aandoening |
| CLCF1cardiotrophin like cytokine factor 1 | Altijd | In 1 aandoening |
| DSEdermatan sulfate epimerase | Altijd | In 2 aandoeningen |
| FIBPFGF1 intracellular binding protein | Altijd | In 2 aandoeningen |
| IFT122intraflagellar transport 122 | Altijd | In 1 aandoening |
| IFT140intraflagellar transport 140 | Altijd | In 1 aandoening |
| KDM6Alysine demethylase 6A | Altijd | In 3 aandoeningen |
| KMT2Dlysine methyltransferase 2D | Altijd | In 2 aandoeningen |
| LGI4leucine rich repeat LGI family member 4 | Altijd | In 1 aandoening |
| MYMXmyomixer, myoblast fusion factor | Altijd | In 1 aandoening |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Altijd | In 1 aandoening |
| NECTIN1nectin cell adhesion molecule 1 | Altijd | In 2 aandoeningen |
| NSD2nuclear receptor binding SET domain protein 2 | Altijd | In 1 aandoening |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altijd | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Altijd | In 1 aandoening |
| RPS6KA3ribosomal protein S6 kinase A3 | Altijd | In 2 aandoeningen |
| SONSON DNA and RNA binding protein | Altijd | In 2 aandoeningen |
| SPIN4spindlin family member 4 | Altijd | In 1 aandoening |
| TASP1taspase 1 | Altijd | In 1 aandoening |
| TRAIPTRAF interacting protein | Altijd | In 1 aandoening |
| TRPS1transcriptional repressor GATA binding 1 | Altijd | In 4 aandoeningen |
| TUBGCP2tubulin gamma complex component 2 | Altijd | In 1 aandoening |
| UBA2ubiquitin like modifier activating enzyme 2 | Altijd | In 1 aandoening |
| ZNF407zinc finger protein 407 | Altijd | In 1 aandoening |
| ANKRD11ankyrin repeat domain 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Heel vaak (80–99%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Heel vaak (80–99%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Heel vaak (80–99%) | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Heel vaak (80–99%) | In 2 aandoeningen |
| CLIP2CAP-Gly domain containing linker protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| DCAF17DDB1 and CUL4 associated factor 17 | Heel vaak (80–99%) | In 2 aandoeningen |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Heel vaak (80–99%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Heel vaak (80–99%) | In 1 aandoening |
| ELNelastin | Heel vaak (80–99%) | In 2 aandoeningen |
| EXT1exostosin glycosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Heel vaak (80–99%) | In 1 aandoening |
| FOXG1forkhead box G1 | Heel vaak (80–99%) | In 2 aandoeningen |
Toon nog 186 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| GTF2Igeneral transcription factor IIi | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Heel vaak (80–99%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Heel vaak (80–99%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NKAPNFKB activating protein | Heel vaak (80–99%) | In 1 aandoening |
| PQBP1polyglutamine binding protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAD21RAD21 cohesin complex component | Heel vaak (80–99%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| STX1Asyntaxin 1A | Heel vaak (80–99%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TBL2transducin beta like 2 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Heel vaak (80–99%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Heel vaak (80–99%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| ARXaristaless related homeobox | Vaak (30–79%) | In 2 aandoeningen |
| BCL11ABCL11 transcription factor A | Vaak (30–79%) | In 1 aandoening |
| BMP1bone morphogenetic protein 1 | Vaak (30–79%) | In 1 aandoening |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Vaak (30–79%) | In 2 aandoeningen |
| CREBBPCREB binding lysine acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| CUL7cullin 7 | Vaak (30–79%) | In 1 aandoening |
| DLX4distal-less homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| FMR1fragile X messenger ribonucleoprotein 1 | Vaak (30–79%) | In 1 aandoening |
| H19H19 imprinted maternally expressed transcript | Vaak (30–79%) | In 1 aandoening |
| HEATR3HEAT repeat containing 3 | Vaak (30–79%) | In 1 aandoening |
| IGF2insulin like growth factor 2 | Vaak (30–79%) | In 1 aandoening |
| INTS1integrator complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| KCNK9potassium two pore domain channel subfamily K member 9 | Vaak (30–79%) | In 1 aandoening |
| KDM5Clysine demethylase 5C | Vaak (30–79%) | In 2 aandoeningen |
| KDM6Blysine demethylase 6B | Vaak (30–79%) | In 1 aandoening |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Vaak (30–79%) | In 1 aandoening |
| MYH3myosin heavy chain 3 | Vaak (30–79%) | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Vaak (30–79%) | In 1 aandoening |
| NAV3neuron navigator 3 | Vaak (30–79%) | In 1 aandoening |
| NHSNHS actin remodeling regulator | Vaak (30–79%) | In 1 aandoening |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Vaak (30–79%) | In 2 aandoeningen |
| NSRP1nuclear speckle splicing regulatory protein 1 | Vaak (30–79%) | In 1 aandoening |
| OBSL1obscurin like cytoskeletal adaptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| PACS1phosphofurin acidic cluster sorting protein 1 | Vaak (30–79%) | In 1 aandoening |
| PGM2L1phosphoglucomutase 2 like 1 | Vaak (30–79%) | In 1 aandoening |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Vaak (30–79%) | In 1 aandoening |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Vaak (30–79%) | In 1 aandoening |
| PLK4polo like kinase 4 | Vaak (30–79%) | In 1 aandoening |
| POU3F3POU class 3 homeobox 3 | Vaak (30–79%) | In 1 aandoening |
| PUS7pseudouridine synthase 7 | Vaak (30–79%) | In 1 aandoening |
| PYCR2pyrroline-5-carboxylate reductase 2 | Vaak (30–79%) | In 1 aandoening |
| RB1RB transcriptional corepressor 1 | Vaak (30–79%) | In 1 aandoening |
| RELREL proto-oncogene, NF-kB subunit | Vaak (30–79%) | In 1 aandoening |
| RPL10ribosomal protein L10 | Vaak (30–79%) | In 3 aandoeningen |
| SCARF2scavenger receptor class F member 2 | Vaak (30–79%) | In 2 aandoeningen |
| SFRP4secreted frizzled related protein 4 | Vaak (30–79%) | In 1 aandoening |
| SH3PXD2BSH3 and PX domains 2B | Vaak (30–79%) | In 2 aandoeningen |
| TET3tet methylcytosine dioxygenase 3 | Vaak (30–79%) | In 1 aandoening |
| TGFBR1transforming growth factor beta receptor 1 | Vaak (30–79%) | In 1 aandoening |
| TNNI2troponin I2, fast skeletal type | Vaak (30–79%) | In 1 aandoening |
| TNNT3troponin T3, fast skeletal type | Vaak (30–79%) | In 1 aandoening |
| TPM2tropomyosin 2 | Vaak (30–79%) | In 1 aandoening |
| TRMT1tRNA methyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| TUBGCP4tubulin gamma complex component 4 | Vaak (30–79%) | In 1 aandoening |
| TUBGCP6tubulin gamma complex component 6 | Vaak (30–79%) | In 1 aandoening |
| TXNL4Athioredoxin like 4A | Vaak (30–79%) | In 1 aandoening |
| WBP4WW domain binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| WDR19WD repeat domain 19 | Vaak (30–79%) | In 1 aandoening |
| XPO1exportin 1 | Vaak (30–79%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Soms (5–29%) | In 2 aandoeningen |
| APCAPC regulator of Wnt signaling pathway | Soms (5–29%) | In 1 aandoening |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Soms (5–29%) | In 1 aandoening |
| BIN1bridging integrator 1 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Soms (5–29%) | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL4A1collagen type IV alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Soms (5–29%) | In 1 aandoening |
| DAG1dystroglycan 1 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DHX37DEAH-box helicase 37 | Soms (5–29%) | In 1 aandoening |
| DOCK6dedicator of cytokinesis 6 | Soms (5–29%) | In 1 aandoening |
| DPP6dipeptidyl peptidase like 6 | Soms (5–29%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Soms (5–29%) | In 2 aandoeningen |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Soms (5–29%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 2 aandoeningen |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| FAM20CFAM20C golgi associated secretory pathway kinase | Soms (5–29%) | In 1 aandoening |
| FBLN5fibulin 5 | Soms (5–29%) | In 1 aandoening |
| FBN1fibrillin 1 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FKRPfukutin related protein | Soms (5–29%) | In 1 aandoening |
| FKTNfukutin | Soms (5–29%) | In 1 aandoening |
| FN1fibronectin 1 | Soms (5–29%) | In 1 aandoening |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Soms (5–29%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Soms (5–29%) | In 1 aandoening |
| GJB3gap junction protein beta 3 | Soms (5–29%) | In 1 aandoening |
| GJB4gap junction protein beta 4 | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Soms (5–29%) | In 2 aandoeningen |
| IFT56intraflagellar transport 56 | Soms (5–29%) | In 1 aandoening |
| INSRinsulin receptor | Soms (5–29%) | In 1 aandoening |
| JARID2jumonji and AT-rich interaction domain containing 2 | Soms (5–29%) | In 1 aandoening |
| KDSR3-ketodihydrosphingosine reductase | Soms (5–29%) | In 1 aandoening |
| KIF11kinesin family member 11 | Soms (5–29%) | In 2 aandoeningen |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| LMNB1lamin B1 | Soms (5–29%) | In 1 aandoening |
| LRP4LDL receptor related protein 4 | Soms (5–29%) | In 1 aandoening |
| MARK2microtubule affinity regulating kinase 2 | Soms (5–29%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Soms (5–29%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Soms (5–29%) | In 1 aandoening |
| MEGF8multiple EGF like domains 8 | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Soms (5–29%) | In 1 aandoening |
| NDST1N-deacetylase and N-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| NEK1NIMA related kinase 1 | Soms (5–29%) | In 1 aandoening |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| POLA1DNA polymerase alpha 1, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Soms (5–29%) | In 1 aandoening |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Soms (5–29%) | In 1 aandoening |
| POMKprotein O-mannose kinase | Soms (5–29%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Soms (5–29%) | In 1 aandoening |
| RFX7regulatory factor X7 | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RXYLT1ribitol xylosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Soms (5–29%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Soms (5–29%) | In 1 aandoening |
| SKISKI proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SLC1A4solute carrier family 1 member 4 | Soms (5–29%) | In 1 aandoening |
| SLC4A10solute carrier family 4 member 10 | Soms (5–29%) | In 1 aandoening |
| SMC5structural maintenance of chromosomes 5 | Soms (5–29%) | In 1 aandoening |
| SMPD4sphingomyelin phosphodiesterase 4 | Soms (5–29%) | In 1 aandoening |
| SPEGstriated muscle enriched protein kinase | Soms (5–29%) | In 1 aandoening |
| SPOPspeckle type BTB/POZ protein | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TBX4T-box transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| TP53RKTP53 regulating kinase | Soms (5–29%) | In 1 aandoening |
| TTNtitin | Soms (5–29%) | In 1 aandoening |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Soms (5–29%) | In 1 aandoening |
| WNT4Wnt family member 4 | Soms (5–29%) | In 1 aandoening |
| WNT7AWnt family member 7A | Soms (5–29%) | In 1 aandoening |
| ZDHHC9zDHHC palmitoyltransferase 9 | Soms (5–29%) | In 2 aandoeningen |
| BSNDbarttin CLCNK type accessory subunit beta | Zelden (1–4%) | In 1 aandoening |
| CLCNKAchloride voltage-gated channel Ka | Zelden (1–4%) | In 1 aandoening |
| CLCNKBchloride voltage-gated channel Kb | Zelden (1–4%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Zelden (1–4%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Zelden (1–4%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Zelden (1–4%) | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Zelden (1–4%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Zelden (1–4%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| TP63tumor protein p63 | Zelden (1–4%) | In 1 aandoening |
| ZNF462zinc finger protein 462 | Zelden (1–4%) | In 1 aandoening |
| ANTXR1ANTXR cell adhesion molecule 1 | Niet vastgelegd | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Niet vastgelegd | In 1 aandoening |
| B3GLCTbeta 3-glucosyltransferase | Niet vastgelegd | In 1 aandoening |
| BLMBLM RecQ like helicase | Niet vastgelegd | In 1 aandoening |
| BMP4bone morphogenetic protein 4 | Niet vastgelegd | In 1 aandoening |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Niet vastgelegd | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Niet vastgelegd | In 1 aandoening |
| CLTCclathrin heavy chain | Niet vastgelegd | In 1 aandoening |
| COL6A1collagen type VI alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| EDNRAendothelin receptor type A | Niet vastgelegd | In 1 aandoening |
| EIF4A3eukaryotic translation initiation factor 4A3 | Niet vastgelegd | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Niet vastgelegd | In 1 aandoening |
| FLNAfilamin A | Niet vastgelegd | In 1 aandoening |
| FRMD4AFERM domain containing 4A | Niet vastgelegd | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Niet vastgelegd | In 1 aandoening |
| KCTD1potassium channel tetramerization domain containing 1 | Niet vastgelegd | In 1 aandoening |
| MAB21L1mab-21 like 1 | Niet vastgelegd | In 1 aandoening |
| MBD5methyl-CpG binding domain protein 5 | Niet vastgelegd | In 1 aandoening |
| OTUD6BOTU deubiquitinase 6B | Niet vastgelegd | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Niet vastgelegd | In 1 aandoening |
| PRUNE1prune exopolyphosphatase 1 | Niet vastgelegd | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Niet vastgelegd | In 1 aandoening |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Niet vastgelegd | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Niet vastgelegd | In 1 aandoening |
| TBX22T-box transcription factor 22 | Niet vastgelegd | In 1 aandoening |
| TFAP2Btranscription factor AP-2 beta | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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