AtlasEgenskap
Peripheral demyelination
A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
Sammendrag
- Også kalt
- Demyelination
- Kroppssystem
- Abnormality of the nervous system
AtlasDenne 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/peripheral-demyelination.json"
page <- fromJSON(url)
page$trait$nameLes genene knyttet til Peripheral demyelination, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test28 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.
- Metachromatic LeukodystrophyReads 2 of these genesPSAPARSAAbout this report →
- Charcot-Marie-Tooth DiseaseReads 10 of these genesEGR2GDAP1GNB4MPZPMP2PMP22About this report →
- Rare Hereditary Peripheral NeuropathiesReads 17 of these genesEGR2GDAP1GNB4MPZPMP2PMP22About this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 2 of these genesTREM2TYROBPAbout this report →
Show 24 more reports
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyReads 2 of these genesMOCS1MOCS2About this report →
- Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)Reads 1 of these genesPMP22About this report →
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- UBTF-Related NeuroregressionReads 1 of these genesUBTFAbout this report →
- Other Inherited LeukodystrophiesReads 7 of these genesPSAPPLP1GALCPEX16ARSATREM2About this report →
- Hereditary HypolipoproteinemiasReads 2 of these genesABCA1MTTPAbout this report →
- Inherited Neurodegenerative DisordersReads 14 of these genesDNM1LPSAPPLP1KIF1CFA2HGALCAbout this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Lysosomal Storage DiseaseReads 4 of these genesPSAPGALCARSASUMF1About this report →
- Homocystinuria & Cobalamin DisordersReads 2 of these genesMMACHCMAT1AAbout this report →
- Alzheimer diseaseReads 1 of these genesTREM2About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesCTDP1FLVCR1MTTPAbout this report →
- Waardenburg SyndromeReads 1 of these genesSOX10About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesPLP1KIF1CFA2HAbout this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesHK1About this report →
- HyperinsulinismReads 1 of these genesHK1About this report →
- Hereditary Optic NeuropathyReads 1 of these genesDNM1LAbout this report →
- Methylmalonic & Propionic AcidemiaReads 1 of these genesMMACHCAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX16About this report →
- Primary Mitochondrial DiseaseReads 3 of these genesCOQ7LRPPRCSURF1About this report →
- Leigh SyndromeReads 2 of these genesLRPPRCSURF1About this report →
- Retinitis PigmentosaReads 2 of these genesHK1FLVCR1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPLP1About this report →
Les genene knyttet til Peripheral demyelination, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test35 gener knyttet til Peripheral demyelination
Endringer i disse genene forårsaker sjeldne tilstander der Peripheral 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 |
|---|---|---|
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| EGR2early growth response 2 | Alltid | I 1 tilstand |
| GDAP1ganglioside induced differentiation associated protein 1 | Alltid | I 3 tilstander |
| GNB4G protein subunit beta 4 | Alltid | I 1 tilstand |
| MPZmyelin protein zero | Alltid | I 3 tilstander |
| PMP2peripheral myelin protein 2 | Alltid | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Alltid | I 1 tilstand |
| PRXperiaxin | Alltid | I 2 tilstander |
| PSAPprosaposin | Alltid | I 1 tilstand |
| HK1hexokinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KIF1Ckinesin family member 1C | Ofte (30–79 %) | I 1 tilstand |
| FA2Hfatty acid 2-hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 2 tilstander |
| MMACHCmetabolism of cobalamin associated C | Noen ganger (5–29 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Noen ganger (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| ABCA1ATP binding cassette subfamily A member 1 | Ikke registrert | I 1 tilstand |
| ARHGEF10Rho guanine nucleotide exchange factor 10 | Ikke registrert | I 1 tilstand |
| ARSAarylsulfatase A | Ikke registrert | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ikke registrert | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ikke registrert | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Ikke registrert | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ikke registrert | I 1 tilstand |
| MAT1Amethionine adenosyltransferase 1A | Ikke registrert | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registrert | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registrert | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Ikke registrert | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Ikke registrert | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ikke registrert | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registrert | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ikke registrert | I 1 tilstand |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Ikke registrert | I 1 tilstand |
| UBTFupstream binding transcription factor | 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.
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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.
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