Požymis
Fewer and broader ridges in brain
Klinikinis pavadinimas: 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.
Santrauka
- Taip pat vadinama
- Cerebral pachygyria, Macrogyria
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test166 genų susiję su Fewer and broader ridges in brain
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Fewer and broader ridges in brain. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Visada | 1 ligoje |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Visada | 1 ligoje |
| CASP2caspase 2 | Visada | 1 ligoje |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Visada | 1 ligoje |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Visada | 1 ligoje |
| CTNNA2catenin alpha 2 | Visada | 1 ligoje |
| EXOSC5exosome component 5 | Visada | 1 ligoje |
| ISCA1iron-sulfur cluster assembly 1 | Visada | 2 ligose |
| KIF2Akinesin family member 2A | Visada | 1 ligoje |
| LAMC3laminin subunit gamma 3 | Visada | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Visada | 3 ligose |
| MACF1microtubule actin crosslinking factor 1 | Visada | 2 ligose |
| SLC30A9solute carrier family 30 member 9 | Visada | 1 ligoje |
| SNAP29synaptosome associated protein 29 | Visada | 2 ligose |
| TCTN2tectonic family member 2 | Visada | 1 ligoje |
| TUBG1tubulin gamma 1 | Visada | 1 ligoje |
| TUBGCP2tubulin gamma complex component 2 | Visada | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Visada | 1 ligoje |
| ACTBactin beta | Labai dažnai (80–99%) | 2 ligose |
| ACTG1actin gamma 1 | Labai dažnai (80–99%) | 2 ligose |
| ARXaristaless related homeobox | Labai dažnai (80–99%) | 3 ligose |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| CEP85Lcentrosomal protein 85L | Labai dažnai (80–99%) | 2 ligose |
| COL4A1collagen type IV alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Labai dažnai (80–99%) | 3 ligose |
| DAG1dystroglycan 1 | Labai dažnai (80–99%) | 1 ligoje |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Labai dažnai (80–99%) | 1 ligoje |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 5 ligose |
| FKTNfukutin | Labai dažnai (80–99%) | 4 ligose |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Labai dažnai (80–99%) | 2 ligose |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 2 ligose |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Labai dažnai (80–99%) | 1 ligoje |
| POMKprotein O-mannose kinase | Labai dažnai (80–99%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Labai dažnai (80–99%) | 3 ligose |
| POMT2protein O-mannosyltransferase 2 | Labai dažnai (80–99%) | 3 ligose |
| RAB18RAB18, member RAS oncogene family | Labai dažnai (80–99%) | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 126 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TBC1D20TBC1 domain family member 20 | Labai dažnai (80–99%) | 1 ligoje |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| ASPMassembly factor for spindle microtubules | Dažnai (30–79%) | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Dažnai (30–79%) | 2 ligose |
| ATP6V1AATPase H+ transporting V1 subunit A | Dažnai (30–79%) | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Dažnai (30–79%) | 1 ligoje |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Dažnai (30–79%) | 1 ligoje |
| CDK6cyclin dependent kinase 6 | Dažnai (30–79%) | 1 ligoje |
| CENPEcentromere protein E | Dažnai (30–79%) | 1 ligoje |
| CEP135centrosomal protein 135 | Dažnai (30–79%) | 1 ligoje |
| CEP152centrosomal protein 152 | Dažnai (30–79%) | 1 ligoje |
| CEP295centrosomal protein 295 | Dažnai (30–79%) | 1 ligoje |
| CITcitron rho-interacting serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| COPB2coat protein complex I subunit beta 2 | Dažnai (30–79%) | 1 ligoje |
| CPAPcentrosome assembly and centriole elongation protein | Dažnai (30–79%) | 1 ligoje |
| CSNK2A1casein kinase 2 alpha 1 | Dažnai (30–79%) | 1 ligoje |
| DCXdoublecortin | Dažnai (30–79%) | 2 ligose |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 2 ligose |
| GON7GON7 subunit of KEOPS complex | Dažnai (30–79%) | 1 ligoje |
| KATNB1katanin regulatory subunit B1 | Dažnai (30–79%) | 1 ligoje |
| KIF14kinesin family member 14 | Dažnai (30–79%) | 1 ligoje |
| KNL1kinetochore scaffold 1 | Dažnai (30–79%) | 1 ligoje |
| LAGE3L antigen family member 3 | Dažnai (30–79%) | 1 ligoje |
| MCM7minichromosome maintenance complex component 7 | Dažnai (30–79%) | 1 ligoje |
| MCPH1microcephalin 1 | Dažnai (30–79%) | 1 ligoje |
| METTL5methyltransferase 5, N6-adenosine | Dažnai (30–79%) | 1 ligoje |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Dažnai (30–79%) | 1 ligoje |
| NCAPD3non-SMC condensin II complex subunit D3 | Dažnai (30–79%) | 1 ligoje |
| NFIXnuclear factor I X | Dažnai (30–79%) | 1 ligoje |
| NUP107nucleoporin 107 | Dažnai (30–79%) | 1 ligoje |
| NUP133nucleoporin 133 | Dažnai (30–79%) | 1 ligoje |
| NUP37nucleoporin 37 | Dažnai (30–79%) | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Dažnai (30–79%) | 2 ligose |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Dažnai (30–79%) | 2 ligose |
| PDCD6IPprogrammed cell death 6 interacting protein | Dažnai (30–79%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Dažnai (30–79%) | 1 ligoje |
| PHC1polyhomeotic homolog 1 | Dažnai (30–79%) | 1 ligoje |
| PLP1proteolipid protein 1 | Dažnai (30–79%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Dažnai (30–79%) | 1 ligoje |
| RRAGCRas related GTP binding C | Dažnai (30–79%) | 1 ligoje |
| SARS1seryl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| SASS6SAS-6 centriolar assembly protein | Dažnai (30–79%) | 1 ligoje |
| STILSTIL centriolar assembly protein | Dažnai (30–79%) | 1 ligoje |
| TAF13TATA-box binding protein associated factor 13 | Dažnai (30–79%) | 1 ligoje |
| TP53RKTP53 regulating kinase | Dažnai (30–79%) | 1 ligoje |
| TPRKBTP53RK binding protein | Dažnai (30–79%) | 2 ligose |
| TRAPPC10trafficking protein particle complex subunit 10 | Dažnai (30–79%) | 1 ligoje |
| TRAPPC14trafficking protein particle complex subunit 14 | Dažnai (30–79%) | 1 ligoje |
| TUBA1Atubulin alpha 1a | Dažnai (30–79%) | 3 ligose |
| TUBB2Btubulin beta 2B class IIb | Dažnai (30–79%) | 3 ligose |
| TUBB3tubulin beta 3 class III | Dažnai (30–79%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| WARS1tryptophanyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| WDR62WD repeat domain 62 | Dažnai (30–79%) | 2 ligose |
| WDR73WD repeat domain 73 | Dažnai (30–79%) | 2 ligose |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Dažnai (30–79%) | 1 ligoje |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Kartais (5–29%) | 1 ligoje |
| AKT3AKT serine/threonine kinase 3 | Kartais (5–29%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| AXIN1axin 1 | Kartais (5–29%) | 1 ligoje |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Kartais (5–29%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Kartais (5–29%) | 2 ligose |
| CCBE1collagen and calcium binding EGF domains 1 | Kartais (5–29%) | 2 ligose |
| CDKL5cyclin dependent kinase like 5 | Kartais (5–29%) | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DMXL2Dmx like 2 | Kartais (5–29%) | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Kartais (5–29%) | 1 ligoje |
| FBXO28F-box protein 28 | Kartais (5–29%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Kartais (5–29%) | 1 ligoje |
| FOXG1forkhead box G1 | Kartais (5–29%) | 1 ligoje |
| FRMD5FERM domain containing 5 | Kartais (5–29%) | 1 ligoje |
| GNAO1G protein subunit alpha o1 | Kartais (5–29%) | 1 ligoje |
| GPX4glutathione peroxidase 4 | Kartais (5–29%) | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Kartais (5–29%) | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Kartais (5–29%) | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Kartais (5–29%) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| KIFBPkinesin family binding protein | Kartais (5–29%) | 2 ligose |
| LAMA2laminin subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| MLYCDmalonyl-CoA decarboxylase | Kartais (5–29%) | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Kartais (5–29%) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Kartais (5–29%) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Kartais (5–29%) | 1 ligoje |
| PDHBpyruvate dehydrogenase E1 subunit beta | Kartais (5–29%) | 1 ligoje |
| PIDD1p53-induced death domain protein 1 | Kartais (5–29%) | 1 ligoje |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Kartais (5–29%) | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 2 ligose |
| PNKPpolynucleotide kinase 3'-phosphatase | Kartais (5–29%) | 1 ligoje |
| PPFIBP1PPFIB scaffold protein 1 | Kartais (5–29%) | 1 ligoje |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Kartais (5–29%) | 1 ligoje |
| RTTNrotatin | Kartais (5–29%) | 1 ligoje |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Kartais (5–29%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Kartais (5–29%) | 1 ligoje |
| SIK1salt inducible kinase 1 | Kartais (5–29%) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Kartais (5–29%) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Kartais (5–29%) | 1 ligoje |
| SNF8SNF8 subunit of ESCRT-II | Kartais (5–29%) | 1 ligoje |
| TMX2thioredoxin related transmembrane protein 2 | Kartais (5–29%) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Kartais (5–29%) | 1 ligoje |
| WDR26WD repeat domain 26 | Kartais (5–29%) | 1 ligoje |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Retai (1–4 %) | 1 ligoje |
| TBR1T-box brain transcription factor 1 | Retai (1–4 %) | 1 ligoje |
| ARHGAP31Rho GTPase activating protein 31 | Neužfiksuota | 1 ligoje |
| ATRATR checkpoint kinase | Neužfiksuota | 1 ligoje |
| CRADDCARD and death domain containing adaptor protein | Neužfiksuota | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Neužfiksuota | 1 ligoje |
| ETFAelectron transfer flavoprotein subunit alpha | Neužfiksuota | 1 ligoje |
| ETFBelectron transfer flavoprotein subunit beta | Neužfiksuota | 1 ligoje |
| ETFDHelectron transfer flavoprotein dehydrogenase | Neužfiksuota | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Neužfiksuota | 1 ligoje |
| OCLNoccludin | Neužfiksuota | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Neužfiksuota | 1 ligoje |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Neužfiksuota | 1 ligoje |
| RMND1required for meiotic nuclear division 1 homolog | Neužfiksuota | 1 ligoje |
| TCTN1tectonic family member 1 | Neužfiksuota | 1 ligoje |
| TUBGCP6tubulin gamma complex component 6 | Neužfiksuota | 1 ligoje |
| VLDLRvery low density lipoprotein receptor | Neužfiksuota | 1 ligoje |
| ZNHIT3zinc finger HIT-type containing 3 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
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