Požymis
Delayed myelination
Delayed myelination.
Santrauka
- 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 Test119 genų susiję su Delayed myelination
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Delayed myelination. 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 |
|---|---|---|
| TXN2thioredoxin 2 | Labai dažnai (80–99%) | 1 ligoje |
| ADAMTSL1ADAMTS like 1 | Dažnai (30–79%) | 1 ligoje |
| AHCYadenosylhomocysteinase | Dažnai (30–79%) | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Dažnai (30–79%) | 1 ligoje |
| GATAD2BGATA zinc finger domain containing 2B | Dažnai (30–79%) | 1 ligoje |
| NGLY1N-glycanase 1 | Dažnai (30–79%) | 2 ligose |
| OCA2OCA2 melanosomal transmembrane protein | Dažnai (30–79%) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Dažnai (30–79%) | 1 ligoje |
| PLAAphospholipase A2 activating protein | Dažnai (30–79%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 1 ligoje |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Dažnai (30–79%) | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| PRUNE1prune exopolyphosphatase 1 | Dažnai (30–79%) | 1 ligoje |
| PURApurine rich element binding protein A | Dažnai (30–79%) | 1 ligoje |
| SATB2SATB homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Dažnai (30–79%) | 1 ligoje |
| TAF2TATA-box binding protein associated factor 2 | Dažnai (30–79%) | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Dažnai (30–79%) | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 1 ligoje |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ARXaristaless related homeobox | Kartais (5–29%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 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%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Kartais (5–29%) | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Kartais (5–29%) | 1 ligoje |
| CLTCclathrin heavy chain | Kartais (5–29%) | 1 ligoje |
| COG5component of oligomeric golgi complex 5 | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Kartais (5–29%) | 1 ligoje |
| DCXdoublecortin | Kartais (5–29%) | 1 ligoje |
Rodyti dar 79 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| DMXL2Dmx like 2 | Kartais (5–29%) | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Kartais (5–29%) | 1 ligoje |
| FDXRferredoxin reductase | Kartais (5–29%) | 1 ligoje |
| FHfumarate hydratase | Kartais (5–29%) | 1 ligoje |
| GNAO1G protein subunit alpha o1 | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 2 ligose |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Kartais (5–29%) | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Kartais (5–29%) | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Kartais (5–29%) | 1 ligoje |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Kartais (5–29%) | 1 ligoje |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Kartais (5–29%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Kartais (5–29%) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Kartais (5–29%) | 1 ligoje |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Kartais (5–29%) | 1 ligoje |
| KDM1Alysine demethylase 1A | Kartais (5–29%) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Kartais (5–29%) | 1 ligoje |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Kartais (5–29%) | 1 ligoje |
| NACC1nucleus accumbens associated 1 | Kartais (5–29%) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Kartais (5–29%) | 1 ligoje |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Kartais (5–29%) | 2 ligose |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Kartais (5–29%) | 2 ligose |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Kartais (5–29%) | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Kartais (5–29%) | 1 ligoje |
| PLCB1phospholipase C beta 1 | Kartais (5–29%) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 2 ligose |
| PSAT1phosphoserine aminotransferase 1 | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RNF13ring finger protein 13 | Kartais (5–29%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | 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%) | 2 ligose |
| SIK1salt inducible kinase 1 | Kartais (5–29%) | 1 ligoje |
| SLC12A5solute carrier family 12 member 5 | Kartais (5–29%) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Kartais (5–29%) | 3 ligose |
| SLC2A1solute carrier family 2 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Kartais (5–29%) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Kartais (5–29%) | 1 ligoje |
| SYT1synaptotagmin 1 | Kartais (5–29%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Kartais (5–29%) | 2 ligose |
| TRIM8tripartite motif containing 8 | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| UPB1beta-ureidopropionase 1 | Kartais (5–29%) | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Kartais (5–29%) | 1 ligoje |
| YY1YY1 transcription factor | Kartais (5–29%) | 1 ligoje |
| CYB5Acytochrome b5 type A | Retai (1–4 %) | 1 ligoje |
| CYB5R3cytochrome b5 reductase 3 | Retai (1–4 %) | 1 ligoje |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Retai (1–4 %) | 1 ligoje |
| PAK1p21 (RAC1) activated kinase 1 | Retai (1–4 %) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Retai (1–4 %) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Retai (1–4 %) | 1 ligoje |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Neužfiksuota | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Neužfiksuota | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Neužfiksuota | 1 ligoje |
| DHFRdihydrofolate reductase | Neužfiksuota | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Neužfiksuota | 1 ligoje |
| FLCNfolliculin | Neužfiksuota | 1 ligoje |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Neužfiksuota | 1 ligoje |
| GFM1G elongation factor mitochondrial 1 | Neužfiksuota | 1 ligoje |
| GMNNgeminin DNA replication inhibitor | Neužfiksuota | 1 ligoje |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Neužfiksuota | 1 ligoje |
| IREB2iron responsive element binding protein 2 | Neužfiksuota | 1 ligoje |
| ISCA1iron-sulfur cluster assembly 1 | Neužfiksuota | 1 ligoje |
| KMT2Elysine methyltransferase 2E (inactive) | Neužfiksuota | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Neužfiksuota | 1 ligoje |
| MRPS22mitochondrial ribosomal protein S22 | Neužfiksuota | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Neužfiksuota | 1 ligoje |
| RAI1retinoic acid induced 1 | Neužfiksuota | 1 ligoje |
| RMND1required for meiotic nuclear division 1 homolog | Neužfiksuota | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Neužfiksuota | 1 ligoje |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Neužfiksuota | 1 ligoje |
| SLC13A5solute carrier family 13 member 5 | Neužfiksuota | 1 ligoje |
| SLC25A1solute carrier family 25 member 1 | Neužfiksuota | 1 ligoje |
| SLC6A8solute carrier family 6 member 8 | Neužfiksuota | 1 ligoje |
| STAMBPSTAM binding protein | Neužfiksuota | 1 ligoje |
| TBCEtubulin folding cofactor E | Neužfiksuota | 1 ligoje |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | 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.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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