Požymis
Simplified gyral pattern
An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
Santrauka
- Taip pat vadinama
- Cortical gyral simplification
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Simplified gyral pattern. 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 |
|---|---|---|
| ANKLE2ankyrin repeat and LEM domain containing 2 | Visada | 1 ligoje |
| ASPMassembly factor for spindle microtubules | Visada | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Visada | 1 ligoje |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Visada | 1 ligoje |
| CDK6cyclin dependent kinase 6 | Visada | 1 ligoje |
| CEP152centrosomal protein 152 | Visada | 2 ligose |
| CEP295centrosomal protein 295 | Visada | 1 ligoje |
| CITcitron rho-interacting serine/threonine kinase | Visada | 1 ligoje |
| COPB2coat protein complex I subunit beta 2 | Visada | 2 ligose |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Visada | 1 ligoje |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Visada | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Visada | 1 ligoje |
| FKRPfukutin related protein | Visada | 1 ligoje |
| FOXG1forkhead box G1 | Visada | 1 ligoje |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Visada | 1 ligoje |
| GON4Lgon-4 like | Visada | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| GTPBP1GTP binding protein 1 | Visada | 1 ligoje |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| IER3IP1immediate early response 3 interacting protein 1 | Visada | 1 ligoje |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| KATNB1katanin regulatory subunit B1 | Visada | 1 ligoje |
| SNAPINSNAP associated protein | Visada | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Visada | 1 ligoje |
| STAMBPSTAM binding protein | Visada | 1 ligoje |
| STILSTIL centriolar assembly protein | Visada | 1 ligoje |
| TRAPPC12trafficking protein particle complex subunit 12 | Visada | 1 ligoje |
| TSEN2tRNA splicing endonuclease subunit 2 | Visada | 1 ligoje |
| WDR62WD repeat domain 62 | Visada | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Visada | 1 ligoje |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Visada | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| TTC5tetratricopeptide repeat domain 5 | Labai dažnai (80–99%) | 1 ligoje |
| ZNF335zinc finger protein 335 | Labai dažnai (80–99%) | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Dažnai (30–79%) | 1 ligoje |
| CDC40cell division cycle 40 | Dažnai (30–79%) | 1 ligoje |
| CDK4cyclin dependent kinase 4 | Dažnai (30–79%) | 1 ligoje |
| CENPEcentromere protein E | Dažnai (30–79%) | 1 ligoje |
| GLSglutaminase | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 55 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| LIPT2lipoyl(octanoyl) transferase 2 | Dažnai (30–79%) | 1 ligoje |
| LMNB1lamin B1 | Dažnai (30–79%) | 1 ligoje |
| LMNB2lamin B2 | Dažnai (30–79%) | 2 ligose |
| MAST1microtubule associated serine/threonine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| NSRP1nuclear speckle splicing regulatory protein 1 | Dažnai (30–79%) | 1 ligoje |
| PDCD6IPprogrammed cell death 6 interacting protein | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| PPIL1peptidylprolyl isomerase like 1 | Dažnai (30–79%) | 1 ligoje |
| SMPD4sphingomyelin phosphodiesterase 4 | Dažnai (30–79%) | 1 ligoje |
| TRAIPTRAF interacting protein | Dažnai (30–79%) | 1 ligoje |
| TUBB2Atubulin beta 2A class IIa | Dažnai (30–79%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Dažnai (30–79%) | 2 ligose |
| VRK1VRK serine/threonine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Dažnai (30–79%) | 1 ligoje |
| ZNF526zinc finger protein 526 | Dažnai (30–79%) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Kartais (5–29%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Kartais (5–29%) | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Kartais (5–29%) | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Kartais (5–29%) | 2 ligose |
| CSNK2A1casein kinase 2 alpha 1 | Kartais (5–29%) | 1 ligoje |
| CUL4Bcullin 4B | Kartais (5–29%) | 1 ligoje |
| DPF2double PHD fingers 2 | Kartais (5–29%) | 1 ligoje |
| FAM177A1family with sequence similarity 177 member A1 | Kartais (5–29%) | 1 ligoje |
| FEM1Bfem-1 homolog B | Kartais (5–29%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Kartais (5–29%) | 1 ligoje |
| MED27mediator complex subunit 27 | Kartais (5–29%) | 1 ligoje |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Kartais (5–29%) | 1 ligoje |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PSAT1phosphoserine aminotransferase 1 | Kartais (5–29%) | 1 ligoje |
| RTTNrotatin | Kartais (5–29%) | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Kartais (5–29%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Kartais (5–29%) | 1 ligoje |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Kartais (5–29%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Kartais (5–29%) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 1 ligoje |
| SOX11SRY-box transcription factor 11 | Kartais (5–29%) | 1 ligoje |
| SOX4SRY-box transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| TMEM222transmembrane protein 222 | Kartais (5–29%) | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Kartais (5–29%) | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Retai (1–4 %) | 2 ligose |
| C2CD3C2 domain containing 3 centriole elongation regulator | Neužfiksuota | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Neužfiksuota | 1 ligoje |
| EXOC7exocyst complex component 7 | Neužfiksuota | 1 ligoje |
| GMNNgeminin DNA replication inhibitor | Neužfiksuota | 1 ligoje |
| KIF11kinesin family member 11 | Neužfiksuota | 1 ligoje |
| KIF14kinesin family member 14 | Neužfiksuota | 1 ligoje |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Neužfiksuota | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Neužfiksuota | 1 ligoje |
| PLK4polo like kinase 4 | Neužfiksuota | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Neužfiksuota | 1 ligoje |
| QARS1glutaminyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| TUBGCP6tubulin gamma complex component 6 | Neužfiksuota | 1 ligoje |
| VLDLRvery low density lipoprotein receptor | Neužfiksuota | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | 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.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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