Træk
Fewer and broader ridges in brain
Klinisk navn: 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.
Resumé
- Også kaldet
- Cerebral pachygyria, Macrogyria
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test166 gener knyttet til Fewer and broader ridges in brain
Ændringer i disse gener forårsager sjældne tilstande, hvor Fewer and broader ridges in brain ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Altid | I 1 tilstand |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Altid | I 1 tilstand |
| CASP2caspase 2 | Altid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altid | I 1 tilstand |
| CTNNA2catenin alpha 2 | Altid | I 1 tilstand |
| EXOSC5exosome component 5 | Altid | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Altid | I 2 tilstande |
| KIF2Akinesin family member 2A | Altid | I 1 tilstand |
| LAMC3laminin subunit gamma 3 | Altid | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altid | I 3 tilstande |
| MACF1microtubule actin crosslinking factor 1 | Altid | I 2 tilstande |
| SLC30A9solute carrier family 30 member 9 | Altid | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Altid | I 2 tilstande |
| TCTN2tectonic family member 2 | Altid | I 1 tilstand |
| TUBG1tubulin gamma 1 | Altid | I 1 tilstand |
| TUBGCP2tubulin gamma complex component 2 | Altid | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Altid | I 1 tilstand |
| ACTBactin beta | Meget ofte (80–99 %) | I 2 tilstande |
| ACTG1actin gamma 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ARXaristaless related homeobox | Meget ofte (80–99 %) | I 3 tilstande |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Meget ofte (80–99 %) | I 2 tilstande |
| COL4A1collagen type IV alpha 1 chain | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 3 tilstande |
| DAG1dystroglycan 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 5 tilstande |
| FKTNfukutin | Meget ofte (80–99 %) | I 4 tilstande |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Meget ofte (80–99 %) | I 2 tilstande |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 2 tilstande |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Meget ofte (80–99 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Meget ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 3 tilstande |
| RAB18RAB18, member RAS oncogene family | Meget ofte (80–99 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
Vis 126 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TBC1D20TBC1 domain family member 20 | Meget ofte (80–99 %) | I 1 tilstand |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Ofte (30–79 %) | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ofte (30–79 %) | I 2 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CDK6cyclin dependent kinase 6 | Ofte (30–79 %) | I 1 tilstand |
| CENPEcentromere protein E | Ofte (30–79 %) | I 1 tilstand |
| CEP135centrosomal protein 135 | Ofte (30–79 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Ofte (30–79 %) | I 1 tilstand |
| CEP295centrosomal protein 295 | Ofte (30–79 %) | I 1 tilstand |
| CITcitron rho-interacting serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Ofte (30–79 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| DCXdoublecortin | Ofte (30–79 %) | I 2 tilstande |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| GON7GON7 subunit of KEOPS complex | Ofte (30–79 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| KIF14kinesin family member 14 | Ofte (30–79 %) | I 1 tilstand |
| KNL1kinetochore scaffold 1 | Ofte (30–79 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Ofte (30–79 %) | I 1 tilstand |
| MCM7minichromosome maintenance complex component 7 | Ofte (30–79 %) | I 1 tilstand |
| MCPH1microcephalin 1 | Ofte (30–79 %) | I 1 tilstand |
| METTL5methyltransferase 5, N6-adenosine | Ofte (30–79 %) | I 1 tilstand |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Ofte (30–79 %) | I 1 tilstand |
| NCAPD3non-SMC condensin II complex subunit D3 | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Ofte (30–79 %) | I 1 tilstand |
| NUP133nucleoporin 133 | Ofte (30–79 %) | I 1 tilstand |
| NUP37nucleoporin 37 | Ofte (30–79 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ofte (30–79 %) | I 2 tilstande |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| PDCD6IPprogrammed cell death 6 interacting protein | Ofte (30–79 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 1 tilstand |
| PHC1polyhomeotic homolog 1 | Ofte (30–79 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofte (30–79 %) | I 1 tilstand |
| RRAGCRas related GTP binding C | Ofte (30–79 %) | I 1 tilstand |
| SARS1seryl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| SASS6SAS-6 centriolar assembly protein | Ofte (30–79 %) | I 1 tilstand |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 1 tilstand |
| TAF13TATA-box binding protein associated factor 13 | Ofte (30–79 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Ofte (30–79 %) | I 1 tilstand |
| TPRKBTP53RK binding protein | Ofte (30–79 %) | I 2 tilstande |
| TRAPPC10trafficking protein particle complex subunit 10 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC14trafficking protein particle complex subunit 14 | Ofte (30–79 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Ofte (30–79 %) | I 3 tilstande |
| TUBB2Btubulin beta 2B class IIb | Ofte (30–79 %) | I 3 tilstande |
| TUBB3tubulin beta 3 class III | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Ofte (30–79 %) | I 2 tilstande |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 2 tilstande |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Ofte (30–79 %) | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| AXIN1axin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Nogle gange (5–29 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Nogle gange (5–29 %) | I 2 tilstande |
| CCBE1collagen and calcium binding EGF domains 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CDKL5cyclin dependent kinase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Nogle gange (5–29 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Nogle gange (5–29 %) | I 1 tilstand |
| FRMD5FERM domain containing 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Nogle gange (5–29 %) | I 1 tilstand |
| GPX4glutathione peroxidase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Nogle gange (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| LAMA2laminin subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| MLYCDmalonyl-CoA decarboxylase | Nogle gange (5–29 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Nogle gange (5–29 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PDHBpyruvate dehydrogenase E1 subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PIDD1p53-induced death domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Nogle gange (5–29 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 2 tilstande |
| PNKPpolynucleotide kinase 3'-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Nogle gange (5–29 %) | I 1 tilstand |
| RTTNrotatin | Nogle gange (5–29 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNF8SNF8 subunit of ESCRT-II | Nogle gange (5–29 %) | I 1 tilstand |
| TMX2thioredoxin related transmembrane protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Nogle gange (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sjældent (1–4%) | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Sjældent (1–4%) | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registreret | I 1 tilstand |
| ATRATR checkpoint kinase | Ikke registreret | I 1 tilstand |
| CRADDCARD and death domain containing adaptor protein | Ikke registreret | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ikke registreret | I 1 tilstand |
| ETFAelectron transfer flavoprotein subunit alpha | Ikke registreret | I 1 tilstand |
| ETFBelectron transfer flavoprotein subunit beta | Ikke registreret | I 1 tilstand |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ikke registreret | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Ikke registreret | I 1 tilstand |
| OCLNoccludin | Ikke registreret | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Ikke registreret | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ikke registreret | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Ikke registreret | I 1 tilstand |
| TCTN1tectonic family member 1 | Ikke registreret | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ikke registreret | I 1 tilstand |
| VLDLRvery low density lipoprotein receptor | Ikke registreret | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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