Požymis
Impaired proprioception
A loss or impairment of the sensation of the relative position of parts of the body and joint position.
Santrauka
- Taip pat vadinama
- Abnormality of proprioception
- Kūno sistema
- Abnormality of the nervous system
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Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/impaired-proprioception.json"
page <- fromJSON(url)
page$trait$nameVienu tyrimu sužinokite genus, susijusius su Impaired proprioception, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test18 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.
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 8 of these genesSETXTTPAFLVCR1FXNSTUB1VPS13DAbout this report →
- Friedreich AtaxiaReads 1 of these genesFXNAbout this report →
- Primary Microcephaly 26 (LMNB1)Reads 1 of these genesLMNB1About this report →
- Inherited Neurodegenerative DisordersReads 18 of these genesSETXTTPAUCHL1FLVCR1FXNATN1About this report →
Show 14 more reports
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 5 of these genesATN1PDYNSTUB1ATXN1TGM6About this report →
- Hereditary HypolipoproteinemiasReads 2 of these genesMTTPSAR1BAbout this report →
- Hereditary Spastic ParaplegiaReads 5 of these genesUCHL1GBA2REEP1RTN2UBAP1About this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesLMNB1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 7 of these genesSETXTTPANEFLREEP1RTN2MTTPAbout this report →
- Charcot-Marie-Tooth DiseaseReads 4 of these genesSETXNEFLREEP1RTN2About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesERBB3About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesPRDM12About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesVAMP1About this report →
- Spinal Muscular AtrophyReads 1 of these genesREEP1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesSETXAbout this report →
- DNA Repair DiseaseReads 1 of these genesSETXAbout this report →
- Other Inherited LeukodystrophiesReads 1 of these genesLMNB1About this report →
- Retinitis PigmentosaReads 1 of these genesFLVCR1About this report →
Vienu tyrimu sužinokite genus, susijusius su Impaired proprioception, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test25 genų susiję su Impaired proprioception
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Impaired proprioception. 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 |
|---|---|---|
| SETXsenataxin | Visada | 1 ligoje |
| TTPAalpha tocopherol transfer protein | Visada | 2 ligose |
| UCHL1ubiquitin C-terminal hydrolase L1 | Visada | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Labai dažnai (80–99%) | 2 ligose |
| FXNfrataxin | Labai dažnai (80–99%) | 2 ligose |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Labai dažnai (80–99%) | 1 ligoje |
| ATN1atrophin 1 | Dažnai (30–79%) | 1 ligoje |
| GBA2glucosylceramidase beta 2 | Dažnai (30–79%) | 1 ligoje |
| NEFLneurofilament light chain | Dažnai (30–79%) | 1 ligoje |
| PDYNprodynorphin | Dažnai (30–79%) | 1 ligoje |
| REEP1receptor accessory protein 1 | Dažnai (30–79%) | 1 ligoje |
| RTN2reticulon 2 | Dažnai (30–79%) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Dažnai (30–79%) | 1 ligoje |
| UBAP1ubiquitin associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| VPS13Dvacuolar protein sorting 13 homolog D | Dažnai (30–79%) | 1 ligoje |
| VPS41VPS41 subunit of HOPS complex | Dažnai (30–79%) | 1 ligoje |
| ATXN1ataxin 1 | Kartais (5–29%) | 2 ligose |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Kartais (5–29%) | 1 ligoje |
| PRDM12PR/SET domain 12 | Kartais (5–29%) | 1 ligoje |
| TGM6transglutaminase 6 | Kartais (5–29%) | 1 ligoje |
| VAMP1vesicle associated membrane protein 1 | Kartais (5–29%) | 1 ligoje |
| SAR1Bsecretion associated Ras related GTPase 1B | Retai (1–4 %) | 1 ligoje |
| VPS37AVPS37A subunit of ESCRT-I | Retai (1–4 %) | 1 ligoje |
| ERBB3erb-b2 receptor tyrosine kinase 3 | 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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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 2026.10.19-9814e911.
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