Kenmerk
Long eyelashes
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Samenvatting
- Ook bekend als
- Increased length of eyelashes, Unusually long eyelashes, Ciliary trichomegaly, Eyelash trichomegaly
- Lichaamssysteem
- Abnormality of head or neckAbnormality of the integument
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Long eyelashes 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 |
|---|---|---|
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Altijd | In 1 aandoening |
| ARID1AAT-rich interaction domain 1A | Altijd | In 1 aandoening |
| C1GALT1C1C1GALT1 specific chaperone 1 | Altijd | In 1 aandoening |
| CNOT2CCR4-NOT transcription complex subunit 2 | Altijd | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Altijd | In 3 aandoeningen |
| DENND5ADENN domain containing 5A | Altijd | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Altijd | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Altijd | In 2 aandoeningen |
| ESAMendothelial cell adhesion molecule | Altijd | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Altijd | In 1 aandoening |
| HDAC8histone deacetylase 8 | Altijd | In 2 aandoeningen |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KCNK4potassium two pore domain channel subfamily K member 4 | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| MOGSmannosyl-oligosaccharide glucosidase | Altijd | In 2 aandoeningen |
| PNPLA6patatin like domain 6, lysophospholipase | Altijd | In 2 aandoeningen |
| PPFIA3PPFI scaffold protein A3 | Altijd | In 1 aandoening |
| RAC3Rac family small GTPase 3 | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RPS23ribosomal protein S23 | Altijd | In 1 aandoening |
| SATB2SATB homeobox 2 | Altijd | In 1 aandoening |
| SEC31ASEC31 homolog A, COPII component | Altijd | In 1 aandoening |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Altijd | In 1 aandoening |
| SLC30A9solute carrier family 30 member 9 | Altijd | In 1 aandoening |
| SMAD4SMAD family member 4 | Altijd | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Altijd | In 1 aandoening |
| TIMM50translocase of inner mitochondrial membrane 50 | Altijd | In 1 aandoening |
| TMCO1transmembrane and coiled-coil domains 1 | Altijd | In 1 aandoening |
| VPS51VPS51 subunit of GARP complex | Altijd | In 1 aandoening |
| ABCC9ATP binding cassette subfamily C member 9 | Heel vaak (80–99%) | In 2 aandoeningen |
| AFF4ALF transcription elongation factor 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| BRD4bromodomain containing 4 | Heel vaak (80–99%) | In 1 aandoening |
| CAMKMTcalmodulin-lysine N-methyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| FBN1fibrillin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| HID1HID1 domain containing | Heel vaak (80–99%) | In 1 aandoening |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Heel vaak (80–99%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Heel vaak (80–99%) | In 3 aandoeningen |
| KMT2Alysine methyltransferase 2A | Heel vaak (80–99%) | In 2 aandoeningen |
| KMT2Dlysine methyltransferase 2D | Heel vaak (80–99%) | In 2 aandoeningen |
Toon nog 112 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| LTBP1latent transforming growth factor beta binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| LTBP3latent transforming growth factor beta binding protein 3 | Heel vaak (80–99%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Heel vaak (80–99%) | In 2 aandoeningen |
| NIPBLNIPBL cohesin loading factor | Heel vaak (80–99%) | In 2 aandoeningen |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Heel vaak (80–99%) | In 1 aandoening |
| PREPLprolyl endopeptidase like | Heel vaak (80–99%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Heel vaak (80–99%) | In 1 aandoening |
| SLC3A1solute carrier family 3 member 1 | Heel vaak (80–99%) | In 1 aandoening |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Heel vaak (80–99%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Heel vaak (80–99%) | In 2 aandoeningen |
| SMC3structural maintenance of chromosomes 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| VPS13Bvacuolar protein sorting 13 homolog B | Heel vaak (80–99%) | In 1 aandoening |
| ASXL2ASXL transcriptional regulator 2 | Vaak (30–79%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Vaak (30–79%) | In 2 aandoeningen |
| BCL11ABCL11 transcription factor A | Vaak (30–79%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Vaak (30–79%) | In 1 aandoening |
| BMP1bone morphogenetic protein 1 | Vaak (30–79%) | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Vaak (30–79%) | In 1 aandoening |
| CCDC47coiled-coil domain containing 47 | Vaak (30–79%) | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| COX5Acytochrome c oxidase subunit 5A | Vaak (30–79%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Vaak (30–79%) | In 2 aandoeningen |
| DOCK7dedicator of cytokinesis 7 | Vaak (30–79%) | In 2 aandoeningen |
| DONSONDNA replication fork stabilization factor DONSON | Vaak (30–79%) | In 1 aandoening |
| DVL1dishevelled segment polarity protein 1 | Vaak (30–79%) | In 3 aandoeningen |
| DVL3dishevelled segment polarity protein 3 | Vaak (30–79%) | In 2 aandoeningen |
| EXOC8exocyst complex component 8 | Vaak (30–79%) | In 1 aandoening |
| FRMD4AFERM domain containing 4A | Vaak (30–79%) | In 2 aandoeningen |
| FZD2frizzled class receptor 2 | Vaak (30–79%) | In 1 aandoening |
| HPGD15-hydroxyprostaglandin dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Vaak (30–79%) | In 2 aandoeningen |
| KCNK9potassium two pore domain channel subfamily K member 9 | Vaak (30–79%) | In 1 aandoening |
| MBD5methyl-CpG binding domain protein 5 | Vaak (30–79%) | In 1 aandoening |
| NXNnucleoredoxin | Vaak (30–79%) | In 2 aandoeningen |
| OTUD6BOTU deubiquitinase 6B | Vaak (30–79%) | In 2 aandoeningen |
| PACS1phosphofurin acidic cluster sorting protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| PRR12proline rich 12 | Vaak (30–79%) | In 1 aandoening |
| RELREL proto-oncogene, NF-kB subunit | Vaak (30–79%) | In 1 aandoening |
| RNF2ring finger protein 2 | Vaak (30–79%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| RUSC2RUN and SH3 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Vaak (30–79%) | In 1 aandoening |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Vaak (30–79%) | In 1 aandoening |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Vaak (30–79%) | In 3 aandoeningen |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Vaak (30–79%) | In 1 aandoening |
| SOX11SRY-box transcription factor 11 | Vaak (30–79%) | In 1 aandoening |
| SPOPspeckle type BTB/POZ protein | Vaak (30–79%) | In 1 aandoening |
| VARS1valyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Vaak (30–79%) | In 2 aandoeningen |
| WNT5AWnt family member 5A | Vaak (30–79%) | In 2 aandoeningen |
| XPO1exportin 1 | Vaak (30–79%) | In 1 aandoening |
| ACTBactin beta | Soms (5–29%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Soms (5–29%) | In 1 aandoening |
| ATXN7L3ataxin 7 like 3 | Soms (5–29%) | In 1 aandoening |
| BORCS8BLOC-1 related complex subunit 8 | Soms (5–29%) | In 1 aandoening |
| CACHD1cache domain containing 1 | Soms (5–29%) | In 1 aandoening |
| CDC42BPBCDC42 binding protein kinase beta | Soms (5–29%) | In 1 aandoening |
| CHD1chromodomain helicase DNA binding protein 1 | Soms (5–29%) | In 1 aandoening |
| CHMP1Acharged multivesicular body protein 1A | Soms (5–29%) | In 1 aandoening |
| CSF1Rcolony stimulating factor 1 receptor | Soms (5–29%) | In 1 aandoening |
| DDB1damage specific DNA binding protein 1 | Soms (5–29%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| GNB2G protein subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Soms (5–29%) | In 1 aandoening |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Soms (5–29%) | In 1 aandoening |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Soms (5–29%) | In 2 aandoeningen |
| MAB21L1mab-21 like 1 | Soms (5–29%) | In 2 aandoeningen |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MAFMAF bZIP transcription factor | Soms (5–29%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Soms (5–29%) | In 1 aandoening |
| MED27mediator complex subunit 27 | Soms (5–29%) | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Soms (5–29%) | In 2 aandoeningen |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Soms (5–29%) | In 1 aandoening |
| NRCAMneuronal cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| PGM2L1phosphoglucomutase 2 like 1 | Soms (5–29%) | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Soms (5–29%) | In 1 aandoening |
| PUF60poly(U) binding splicing factor 60 | Soms (5–29%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| SEPHS1selenophosphate synthetase 1 | Soms (5–29%) | In 1 aandoening |
| SLC35C1solute carrier family 35 member C1 | Soms (5–29%) | In 1 aandoening |
| SLC4A10solute carrier family 4 member 10 | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| STAG1STAG1 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Soms (5–29%) | In 1 aandoening |
| TAF6TATA-box binding protein associated factor 6 | Soms (5–29%) | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Soms (5–29%) | In 1 aandoening |
| TBX4T-box transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Soms (5–29%) | In 1 aandoening |
| WDR83OSWD repeat domain 83 opposite strand | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| CNTNAP2contactin associated protein 2 | Zelden (1–4%) | In 1 aandoening |
| MAN1B1mannosidase alpha class 1B member 1 | Zelden (1–4%) | In 1 aandoening |
| MARK2microtubule affinity regulating kinase 2 | Zelden (1–4%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Niet vastgelegd | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Niet vastgelegd | In 1 aandoening |
| EGFRepidermal growth factor receptor | Niet vastgelegd | In 1 aandoening |
| FGF5fibroblast growth factor 5 | Niet vastgelegd | In 1 aandoening |
| MAB21L2mab-21 like 2 | Niet vastgelegd | In 1 aandoening |
| NOTCH2notch receptor 2 | Niet vastgelegd | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| SLC6A9solute carrier family 6 member 9 | Niet vastgelegd | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Niet vastgelegd | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Niet vastgelegd | In 1 aandoening |
| TENT5Aterminal nucleotidyltransferase 5A | 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.
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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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