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Tunnus
CNS demyelination
A loss of myelin from nerve fibers in the central nervous system.
Kokkuvõte
- Teised nimetused
- Demyelination in central white matter
- Kehasüsteem
- Abnormality of the nervous system
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Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/cns-demyelination.json"
page <- fromJSON(url)
page$trait$nameCNS demyelinationHP:0007305
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Lugege välja geenid, mis on seotud CNS demyelination-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test40 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Other Inherited LeukodystrophiesReads 11 of these genesTREX1ABCD1ALDH3A2GALCCYP27A1ASPAAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 2 of these genesCSF1RTREM2About this report →
- Brain Abnormalities, Neurodegeneration and Dysosteosclerosis (BANDDOS)Reads 1 of these genesCSF1RAbout this report →
- Canavan DiseaseReads 1 of these genesASPAAbout this report →
Show 36 more reports
- Cerebrotendinous XanthomatosisReads 1 of these genesCYP27A1About this report →
- Glutaminase DeficiencyReads 1 of these genesGLSAbout this report →
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- Mitchell SyndromeReads 1 of these genesACOX1About this report →
- TNR-Related Neurodevelopmental Disorder with SpasticityReads 1 of these genesTNRAbout this report →
- X-Linked Adrenoleukodystrophy (ABCD1)Reads 1 of these genesABCD1About this report →
- Inherited Neurodegenerative DisordersReads 14 of these genesAFG3L2TREX1ABCD1ALDH3A2GALCCYP27A1About this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Severe Inherited Insulin ResistanceReads 1 of these genesINSRAbout this report →
- Lysosomal Storage DiseaseReads 4 of these genesGALCCYP27A1PSAPSUMF1About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesREREAbout this report →
- Familial Hemophagocytic LymphohistiocytosisReads 1 of these genesPRF1About this report →
- Alzheimer diseaseReads 1 of these genesTREM2About this report →
- Primary Mitochondrial DiseaseReads 5 of these genesAFG3L2NDUFAF4TEFMMRPL39LRPPRCAbout this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesACOX1About this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Vanishing White Matter DiseaseReads 1 of these genesEIF2B1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 6 of these genesGALCCYP27A1LRPPRCMTTPPEX19PSAPAbout this report →
- Hereditary HypolipoproteinemiasReads 1 of these genesMTTPAbout this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesTREX1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesAFG3L2PDYNAbout this report →
- HyperinsulinismReads 1 of these genesINSRAbout this report →
- Type I InterferonopathiesReads 1 of these genesTREX1About this report →
- Hereditary Optic NeuropathyReads 1 of these genesAFG3L2About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX19About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesCYP27A1MTTPAbout this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMAT1AAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesEIF2B1About this report →
- Autoimmune DiseaseReads 1 of these genesTREX1About this report →
- Diabetes MellitusReads 1 of these genesEIF2B1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesTREX1About this report →
- DNA Repair DiseaseReads 1 of these genesERCC6About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesPRF1TREX1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesABCD1About this report →
- Leigh SyndromeReads 1 of these genesLRPPRCAbout this report →
- Epilepsy (Full Panel)Reads 1 of these genesGLSAbout this report →
Lugege välja geenid, mis on seotud CNS demyelination-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test32 geeni on seotud tunnusega CNS demyelination
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb CNS demyelination. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alati | Esineb 1 haiguses |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Alati | Esineb 1 haiguses |
| PPFIBP1PPFIB scaffold protein 1 | Alati | Esineb 1 haiguses |
| PRF1perforin 1 | Alati | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Alati | Esineb 1 haiguses |
| TEFMtranscription elongation factor, mitochondrial | Alati | Esineb 1 haiguses |
| TNRtenascin R | Alati | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Alati | Esineb 1 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sageli (30–79%) | Esineb 2 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sageli (30–79%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Sageli (30–79%) | Esineb 2 haiguses |
| GLSglutaminase | Sageli (30–79%) | Esineb 1 haiguses |
| MRPL39mitochondrial ribosomal protein L39 | Sageli (30–79%) | Esineb 1 haiguses |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INSRinsulin receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACOX1acyl-CoA oxidase 1 | Pole registreeritud | Esineb 1 haiguses |
| ASPAaspartoacylase | Pole registreeritud | Esineb 1 haiguses |
| CSF1Rcolony stimulating factor 1 receptor | Pole registreeritud | Esineb 1 haiguses |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Pole registreeritud | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Pole registreeritud | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Pole registreeritud | Esineb 1 haiguses |
| MAT1Amethionine adenosyltransferase 1A | Pole registreeritud | Esineb 1 haiguses |
| MTTPmicrosomal triglyceride transfer protein | Pole registreeritud | Esineb 1 haiguses |
| PDYNprodynorphin | Pole registreeritud | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Pole registreeritud | Esineb 1 haiguses |
| PSAPprosaposin | Pole registreeritud | Esineb 2 haiguses |
| SUMF1sulfatase modifying factor 1 | Pole registreeritud | Esineb 1 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.19-9814e911.
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Logi sisseKüsiSekveneeri oma genoom↗
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
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