Kenmerk
Fewer and broader ridges in brain
Klinische naam: Pachygyria
Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Samenvatting
- Ook bekend als
- Cerebral pachygyria, Macrogyria
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Fewer and broader ridges in brain 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 |
|---|---|---|
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Altijd | In 1 aandoening |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Altijd | In 1 aandoening |
| CASP2caspase 2 | Altijd | In 1 aandoening |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altijd | In 1 aandoening |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altijd | In 1 aandoening |
| CTNNA2catenin alpha 2 | Altijd | In 1 aandoening |
| EXOSC5exosome component 5 | Altijd | In 1 aandoening |
| ISCA1iron-sulfur cluster assembly 1 | Altijd | In 2 aandoeningen |
| KIF2Akinesin family member 2A | Altijd | In 1 aandoening |
| LAMC3laminin subunit gamma 3 | Altijd | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altijd | In 3 aandoeningen |
| MACF1microtubule actin crosslinking factor 1 | Altijd | In 2 aandoeningen |
| SLC30A9solute carrier family 30 member 9 | Altijd | In 1 aandoening |
| SNAP29synaptosome associated protein 29 | Altijd | In 2 aandoeningen |
| TCTN2tectonic family member 2 | Altijd | In 1 aandoening |
| TUBG1tubulin gamma 1 | Altijd | In 1 aandoening |
| TUBGCP2tubulin gamma complex component 2 | Altijd | In 1 aandoening |
| WSB2WD repeat and SOCS box containing 2 | Altijd | In 1 aandoening |
| ACTBactin beta | Heel vaak (80–99%) | In 2 aandoeningen |
| ACTG1actin gamma 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ARXaristaless related homeobox | Heel vaak (80–99%) | In 3 aandoeningen |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| CEP85Lcentrosomal protein 85L | Heel vaak (80–99%) | In 2 aandoeningen |
| COL4A1collagen type IV alpha 1 chain | Heel vaak (80–99%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Heel vaak (80–99%) | In 3 aandoeningen |
| DAG1dystroglycan 1 | Heel vaak (80–99%) | In 1 aandoening |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Heel vaak (80–99%) | In 1 aandoening |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 5 aandoeningen |
| FKTNfukutin | Heel vaak (80–99%) | In 4 aandoeningen |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Heel vaak (80–99%) | In 2 aandoeningen |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 2 aandoeningen |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Heel vaak (80–99%) | In 1 aandoening |
| POMKprotein O-mannose kinase | Heel vaak (80–99%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| RAB18RAB18, member RAS oncogene family | Heel vaak (80–99%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| RXYLT1ribitol xylosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 126 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| TBC1D20TBC1 domain family member 20 | Heel vaak (80–99%) | In 1 aandoening |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| ASPMassembly factor for spindle microtubules | Vaak (30–79%) | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Vaak (30–79%) | In 2 aandoeningen |
| ATP6V1AATPase H+ transporting V1 subunit A | Vaak (30–79%) | In 1 aandoening |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Vaak (30–79%) | In 1 aandoening |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Vaak (30–79%) | In 1 aandoening |
| CDK6cyclin dependent kinase 6 | Vaak (30–79%) | In 1 aandoening |
| CENPEcentromere protein E | Vaak (30–79%) | In 1 aandoening |
| CEP135centrosomal protein 135 | Vaak (30–79%) | In 1 aandoening |
| CEP152centrosomal protein 152 | Vaak (30–79%) | In 1 aandoening |
| CEP295centrosomal protein 295 | Vaak (30–79%) | In 1 aandoening |
| CITcitron rho-interacting serine/threonine kinase | Vaak (30–79%) | In 1 aandoening |
| COPB2coat protein complex I subunit beta 2 | Vaak (30–79%) | In 1 aandoening |
| CPAPcentrosome assembly and centriole elongation protein | Vaak (30–79%) | In 1 aandoening |
| CSNK2A1casein kinase 2 alpha 1 | Vaak (30–79%) | In 1 aandoening |
| DCXdoublecortin | Vaak (30–79%) | In 2 aandoeningen |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 2 aandoeningen |
| GON7GON7 subunit of KEOPS complex | Vaak (30–79%) | In 1 aandoening |
| KATNB1katanin regulatory subunit B1 | Vaak (30–79%) | In 1 aandoening |
| KIF14kinesin family member 14 | Vaak (30–79%) | In 1 aandoening |
| KNL1kinetochore scaffold 1 | Vaak (30–79%) | In 1 aandoening |
| LAGE3L antigen family member 3 | Vaak (30–79%) | In 1 aandoening |
| MCM7minichromosome maintenance complex component 7 | Vaak (30–79%) | In 1 aandoening |
| MCPH1microcephalin 1 | Vaak (30–79%) | In 1 aandoening |
| METTL5methyltransferase 5, N6-adenosine | Vaak (30–79%) | In 1 aandoening |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Vaak (30–79%) | In 1 aandoening |
| NCAPD3non-SMC condensin II complex subunit D3 | Vaak (30–79%) | In 1 aandoening |
| NFIXnuclear factor I X | Vaak (30–79%) | In 1 aandoening |
| NUP107nucleoporin 107 | Vaak (30–79%) | In 1 aandoening |
| NUP133nucleoporin 133 | Vaak (30–79%) | In 1 aandoening |
| NUP37nucleoporin 37 | Vaak (30–79%) | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Vaak (30–79%) | In 2 aandoeningen |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| PDCD6IPprogrammed cell death 6 interacting protein | Vaak (30–79%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Vaak (30–79%) | In 1 aandoening |
| PHC1polyhomeotic homolog 1 | Vaak (30–79%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Vaak (30–79%) | In 1 aandoening |
| PYCR2pyrroline-5-carboxylate reductase 2 | Vaak (30–79%) | In 1 aandoening |
| RRAGCRas related GTP binding C | Vaak (30–79%) | In 1 aandoening |
| SARS1seryl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| SASS6SAS-6 centriolar assembly protein | Vaak (30–79%) | In 1 aandoening |
| STILSTIL centriolar assembly protein | Vaak (30–79%) | In 1 aandoening |
| TAF13TATA-box binding protein associated factor 13 | Vaak (30–79%) | In 1 aandoening |
| TP53RKTP53 regulating kinase | Vaak (30–79%) | In 1 aandoening |
| TPRKBTP53RK binding protein | Vaak (30–79%) | In 2 aandoeningen |
| TRAPPC10trafficking protein particle complex subunit 10 | Vaak (30–79%) | In 1 aandoening |
| TRAPPC14trafficking protein particle complex subunit 14 | Vaak (30–79%) | In 1 aandoening |
| TUBA1Atubulin alpha 1a | Vaak (30–79%) | In 3 aandoeningen |
| TUBB2Btubulin beta 2B class IIb | Vaak (30–79%) | In 3 aandoeningen |
| TUBB3tubulin beta 3 class III | Vaak (30–79%) | In 1 aandoening |
| VAC14VAC14 component of PIKFYVE complex | Vaak (30–79%) | In 1 aandoening |
| WARS1tryptophanyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| WDR62WD repeat domain 62 | Vaak (30–79%) | In 2 aandoeningen |
| WDR73WD repeat domain 73 | Vaak (30–79%) | In 2 aandoeningen |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Vaak (30–79%) | In 1 aandoening |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Soms (5–29%) | In 1 aandoening |
| AKT3AKT serine/threonine kinase 3 | Soms (5–29%) | In 1 aandoening |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| AXIN1axin 1 | Soms (5–29%) | In 1 aandoening |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Soms (5–29%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Soms (5–29%) | In 2 aandoeningen |
| CCBE1collagen and calcium binding EGF domains 1 | Soms (5–29%) | In 2 aandoeningen |
| CDKL5cyclin dependent kinase like 5 | Soms (5–29%) | In 1 aandoening |
| CPT2carnitine palmitoyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Soms (5–29%) | In 1 aandoening |
| DMXL2Dmx like 2 | Soms (5–29%) | In 1 aandoening |
| FAT4FAT atypical cadherin 4 | Soms (5–29%) | In 1 aandoening |
| FBXO28F-box protein 28 | Soms (5–29%) | In 1 aandoening |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Soms (5–29%) | In 1 aandoening |
| FOXG1forkhead box G1 | Soms (5–29%) | In 1 aandoening |
| FRMD5FERM domain containing 5 | Soms (5–29%) | In 1 aandoening |
| GNAO1G protein subunit alpha o1 | Soms (5–29%) | In 1 aandoening |
| GPX4glutathione peroxidase 4 | Soms (5–29%) | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Soms (5–29%) | In 1 aandoening |
| GRM7glutamate metabotropic receptor 7 | Soms (5–29%) | In 1 aandoening |
| KAT6Blysine acetyltransferase 6B | Soms (5–29%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Soms (5–29%) | In 1 aandoening |
| KIFBPkinesin family binding protein | Soms (5–29%) | In 2 aandoeningen |
| LAMA2laminin subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Soms (5–29%) | In 1 aandoening |
| LMNB1lamin B1 | Soms (5–29%) | In 1 aandoening |
| MLYCDmalonyl-CoA decarboxylase | Soms (5–29%) | In 1 aandoening |
| MTORmechanistic target of rapamycin kinase | Soms (5–29%) | In 1 aandoening |
| NARS1asparaginyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| NEK1NIMA related kinase 1 | Soms (5–29%) | In 1 aandoening |
| NEUROD2neuronal differentiation 2 | Soms (5–29%) | In 1 aandoening |
| PDHBpyruvate dehydrogenase E1 subunit beta | Soms (5–29%) | In 1 aandoening |
| PIDD1p53-induced death domain protein 1 | Soms (5–29%) | In 1 aandoening |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Soms (5–29%) | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Soms (5–29%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 2 aandoeningen |
| PNKPpolynucleotide kinase 3'-phosphatase | Soms (5–29%) | In 1 aandoening |
| PPFIBP1PPFIB scaffold protein 1 | Soms (5–29%) | In 1 aandoening |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Soms (5–29%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Soms (5–29%) | In 1 aandoening |
| RTTNrotatin | Soms (5–29%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Soms (5–29%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Soms (5–29%) | In 1 aandoening |
| SIK1salt inducible kinase 1 | Soms (5–29%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Soms (5–29%) | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Soms (5–29%) | In 1 aandoening |
| SNF8SNF8 subunit of ESCRT-II | Soms (5–29%) | In 1 aandoening |
| TMX2thioredoxin related transmembrane protein 2 | Soms (5–29%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Soms (5–29%) | In 1 aandoening |
| WDR26WD repeat domain 26 | Soms (5–29%) | In 1 aandoening |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Zelden (1–4%) | In 1 aandoening |
| TBR1T-box brain transcription factor 1 | Zelden (1–4%) | In 1 aandoening |
| ARHGAP31Rho GTPase activating protein 31 | Niet vastgelegd | In 1 aandoening |
| ATRATR checkpoint kinase | Niet vastgelegd | In 1 aandoening |
| CRADDCARD and death domain containing adaptor protein | Niet vastgelegd | In 1 aandoening |
| DCHS1dachsous cadherin-related 1 | Niet vastgelegd | In 1 aandoening |
| ETFAelectron transfer flavoprotein subunit alpha | Niet vastgelegd | In 1 aandoening |
| ETFBelectron transfer flavoprotein subunit beta | Niet vastgelegd | In 1 aandoening |
| ETFDHelectron transfer flavoprotein dehydrogenase | Niet vastgelegd | In 1 aandoening |
| NDE1nudE neurodevelopment protein 1 | Niet vastgelegd | In 1 aandoening |
| OCLNoccludin | Niet vastgelegd | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Niet vastgelegd | In 1 aandoening |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Niet vastgelegd | In 1 aandoening |
| RMND1required for meiotic nuclear division 1 homolog | Niet vastgelegd | In 1 aandoening |
| TCTN1tectonic family member 1 | Niet vastgelegd | In 1 aandoening |
| TUBGCP6tubulin gamma complex component 6 | Niet vastgelegd | In 1 aandoening |
| VLDLRvery low density lipoprotein receptor | Niet vastgelegd | In 1 aandoening |
| ZNHIT3zinc finger HIT-type containing 3 | 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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