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Egenskap
CNS demyelination
A loss of myelin from nerve fibers in the central nervous system.
Sammendrag
- Også kalt
- Demyelination in central white matter
- Kroppssystem
- Abnormality of the nervous system
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/cns-demyelination.json"
page <- fromJSON(url)
page$trait$nameCNS demyelinationHP:0007305
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Les genene knyttet til CNS demyelination, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt 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 →
Les genene knyttet til CNS demyelination, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test32 gener knyttet til CNS demyelination
Endringer i disse genene forårsaker sjeldne tilstander der CNS demyelination forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Alltid | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Alltid | I 1 tilstand |
| PRF1perforin 1 | Alltid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Alltid | I 1 tilstand |
| TEFMtranscription elongation factor, mitochondrial | Alltid | I 1 tilstand |
| TNRtenascin R | Alltid | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Alltid | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Ofte (30–79 %) | I 2 tilstander |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 1 tilstand |
| GALCgalactosylceramidase | Ofte (30–79 %) | I 2 tilstander |
| GLSglutaminase | Ofte (30–79 %) | I 1 tilstand |
| MRPL39mitochondrial ribosomal protein L39 | Ofte (30–79 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Noen ganger (5–29 %) | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ikke registrert | I 1 tilstand |
| ASPAaspartoacylase | Ikke registrert | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Ikke registrert | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ikke registrert | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registrert | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ikke registrert | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ikke registrert | I 1 tilstand |
| MAT1Amethionine adenosyltransferase 1A | Ikke registrert | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Ikke registrert | I 1 tilstand |
| PDYNprodynorphin | Ikke registrert | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Ikke registrert | I 1 tilstand |
| PSAPprosaposin | Ikke registrert | I 2 tilstander |
| SUMF1sulfatase modifying factor 1 | Ikke registrert | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.19-9814e911.
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
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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