Kenmerk
Clubbing of fingers and toes
Klinische naam: Clubbing
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Samenvatting
- Ook bekend als
- Digital clubbing
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Clubbing of fingers and toes 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 |
|---|---|---|
| DONSONDNA replication fork stabilization factor DONSON | Altijd | In 1 aandoening |
| HPGD15-hydroxyprostaglandin dehydrogenase | Altijd | In 3 aandoeningen |
| IL6STinterleukin 6 cytokine family signal transducer | Altijd | In 1 aandoening |
| MALT1MALT1 paracaspase | Altijd | In 1 aandoening |
| POT1protection of telomeres 1 | Altijd | In 1 aandoening |
| VPS51VPS51 subunit of GARP complex | Altijd | In 1 aandoening |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Heel vaak (80–99%) | In 2 aandoeningen |
| FLT3LGfms related receptor tyrosine kinase 3 ligand | Vaak (30–79%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| IRF1interferon regulatory factor 1 | Vaak (30–79%) | In 1 aandoening |
| KRT1keratin 1 | Vaak (30–79%) | In 1 aandoening |
| KRT16keratin 16 | Vaak (30–79%) | In 1 aandoening |
| KRT9keratin 9 | Vaak (30–79%) | In 1 aandoening |
| LIFRLIF receptor subunit alpha | Vaak (30–79%) | In 1 aandoening |
| RNF31ring finger protein 31 | Vaak (30–79%) | In 1 aandoening |
| SFTPA1surfactant protein A1 | Vaak (30–79%) | In 1 aandoening |
| SFTPCsurfactant protein C | Vaak (30–79%) | In 1 aandoening |
| SMAD4SMAD family member 4 | Vaak (30–79%) | In 2 aandoeningen |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ABCA12ATP binding cassette subfamily A member 12 | Soms (5–29%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Soms (5–29%) | In 1 aandoening |
| BRWD1bromodomain and WD repeat domain containing 1 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Soms (5–29%) | In 1 aandoening |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Soms (5–29%) | In 1 aandoening |
| CCNOcyclin O | Soms (5–29%) | In 1 aandoening |
| CDC45cell division cycle 45 | Soms (5–29%) | In 1 aandoening |
| CFAP221cilia and flagella associated protein 221 | Soms (5–29%) | In 1 aandoening |
| CFAP298cilia and flagella associated protein 298 | Soms (5–29%) | In 1 aandoening |
| CFAP300cilia and flagella associated protein 300 | Soms (5–29%) | In 1 aandoening |
| CFAP74cilia and flagella associated protein 74 | Soms (5–29%) | In 1 aandoening |
| CLXNcalaxin | Soms (5–29%) | In 1 aandoening |
| DAW1dynein assembly factor with WD repeats 1 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DNAAF1dynein axonemal assembly factor 1 | Soms (5–29%) | In 1 aandoening |
| DNAAF11dynein axonemal assembly factor 11 | Soms (5–29%) | In 1 aandoening |
| DNAAF19dynein axonemal assembly factor 19 | Soms (5–29%) | In 1 aandoening |
| DNAAF2dynein axonemal assembly factor 2 | Soms (5–29%) | In 1 aandoening |
| DNAAF3dynein axonemal assembly factor 3 | Soms (5–29%) | In 1 aandoening |
Toon nog 63 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| DNAAF4dynein axonemal assembly factor 4 | Soms (5–29%) | In 1 aandoening |
| DNAAF5dynein axonemal assembly factor 5 | Soms (5–29%) | In 1 aandoening |
| DNAAF6dynein axonemal assembly factor 6 | Soms (5–29%) | In 1 aandoening |
| DNAH1dynein axonemal heavy chain 1 | Soms (5–29%) | In 1 aandoening |
| DNAH11dynein axonemal heavy chain 11 | Soms (5–29%) | In 1 aandoening |
| DNAH5dynein axonemal heavy chain 5 | Soms (5–29%) | In 1 aandoening |
| DNAH7dynein axonemal heavy chain 7 | Soms (5–29%) | In 1 aandoening |
| DNAH9dynein axonemal heavy chain 9 | Soms (5–29%) | In 1 aandoening |
| DNAI1dynein axonemal intermediate chain 1 | Soms (5–29%) | In 1 aandoening |
| DNAI2dynein axonemal intermediate chain 2 | Soms (5–29%) | In 1 aandoening |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Soms (5–29%) | In 1 aandoening |
| DNAL1dynein axonemal light chain 1 | Soms (5–29%) | In 1 aandoening |
| DRC1dynein regulatory complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| DRC2dynein regulatory complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| DRC4dynein regulatory complex subunit 4 | Soms (5–29%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| FOXJ1forkhead box J1 | Soms (5–29%) | In 1 aandoening |
| GAS2L2growth arrest specific 2 like 2 | 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 |
| HYDINHYDIN axonemal central pair apparatus protein | Soms (5–29%) | In 1 aandoening |
| LRRC56leucine rich repeat containing 56 | Soms (5–29%) | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| NEK10NIMA related kinase 10 | Soms (5–29%) | In 1 aandoening |
| NME5NME/NM23 family member 5 | Soms (5–29%) | In 1 aandoening |
| NME8NME/NM23 family member 8 | Soms (5–29%) | In 1 aandoening |
| ODAD1outer dynein arm docking complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| ODAD2outer dynein arm docking complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| ODAD3outer dynein arm docking complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| ODAD4outer dynein arm docking complex subunit 4 | Soms (5–29%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Soms (5–29%) | In 1 aandoening |
| POLA1DNA polymerase alpha 1, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RPGRretinitis pigmentosa GTPase regulator | Soms (5–29%) | In 1 aandoening |
| RSPH1radial spoke head component 1 | Soms (5–29%) | In 1 aandoening |
| RSPH3radial spoke head 3 | Soms (5–29%) | In 1 aandoening |
| RSPH4Aradial spoke head component 4A | Soms (5–29%) | In 1 aandoening |
| RSPH9radial spoke head component 9 | Soms (5–29%) | In 1 aandoening |
| SPAG1sperm associated antigen 1 | Soms (5–29%) | In 1 aandoening |
| SPEF2sperm flagellar and cilia associated 2 | Soms (5–29%) | In 1 aandoening |
| STK36serine/threonine kinase 36 | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TCF4transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| TTC12tetratricopeptide repeat domain 12 | Soms (5–29%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| ZMYND10zinc finger MYND-type containing 10 | Soms (5–29%) | In 1 aandoening |
| CFTRCF transmembrane conductance regulator | Zelden (1–4%) | In 1 aandoening |
| SCNN1Asodium channel epithelial 1 subunit alpha | Zelden (1–4%) | In 1 aandoening |
| SCNN1Bsodium channel epithelial 1 subunit beta | Zelden (1–4%) | In 1 aandoening |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Zelden (1–4%) | In 1 aandoening |
| ABCA3ATP binding cassette subfamily A member 3 | Niet vastgelegd | In 1 aandoening |
| ACVRL1activin A receptor like type 1 | Niet vastgelegd | In 1 aandoening |
| BTNL2butyrophilin like 2 | Niet vastgelegd | In 1 aandoening |
| CD55CD55 molecule (Cromer blood group) | Niet vastgelegd | In 1 aandoening |
| ENGendoglin | Niet vastgelegd | In 1 aandoening |
| FLNBfilamin B | Niet vastgelegd | In 1 aandoening |
| SFTPBsurfactant protein B | Niet vastgelegd | In 1 aandoening |
| SMARCAD1SNF2 related chromatin remodeling ATPase with DExD box 1 | Niet vastgelegd | In 1 aandoening |
| STK11serine/threonine kinase 11 | 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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