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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Lower limb hypertonia
Santrauka
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
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/lower-limb-hypertonia.json"
page <- fromJSON(url)
page$trait$nameLower limb hypertoniaHP:0006895
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Lower limb hypertonia, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test41 condition report reads 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.
- KDM1A-Related Neurodevelopmental DisorderReads 1 of these genesKDM1AAbout this report →
- KIDINS220-Related Ventriculomegaly and ArthrogryposisReads 1 of these genesKIDINS220About this report →
- KIF5A-Related Amyotrophic Lateral SclerosisReads 1 of these genesKIF5AAbout this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
Show 37 more reports
- Vici SyndromeReads 1 of these genesEPG5About this report →
- Inherited Neurodegenerative DisordersReads 19 of these genesCLDN11KIDINS220KIF5ARTN2TUBA4ASPG7About this report →
- Hereditary Spastic ParaplegiaReads 8 of these genesKIDINS220KIF5ARTN2SPG7ALDH18A1FA2HAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 3 of these genesSDHASDHBSDHDAbout this report →
- Spinal Muscular AtrophyReads 5 of these genesSEPSECSTSEN15TSEN2TSEN54SPTAN1About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 4 of these genesSEPSECSTSEN15TSEN2TSEN54About this report →
- Malignant Endocrine NeoplasmReads 2 of these genesSDHASDHBAbout this report →
- Hereditary Manganese Transporter DisordersReads 1 of these genesSLC39A14About this report →
- Urinary and Renal System TumourReads 2 of these genesSDHASDHBAbout this report →
- Leukocyte Adhesion DeficiencyReads 1 of these genesSLC35C1About this report →
- Hereditary Gastrointestinal Stromal TumourReads 1 of these genesSDHBAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesCLDN11RARS1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 6 of these genesPDHA1RTN2PNPT1SDHAATL1SPTAN1About this report →
- Leigh SyndromeReads 3 of these genesPDHA1PNPT1SDHAAbout this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesRNU7-1About this report →
- Other Inherited LeukodystrophiesReads 3 of these genesCLDN11RARS1RNU7-1About this report →
- Kidney CancerReads 1 of these genesSDHBAbout this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHA1About this report →
- Epilepsy (Full Panel)Reads 4 of these genesTMEM63BPIGASPTAN1KDM5CAbout this report →
- Hereditary Optic NeuropathyReads 1 of these genesAFG3L2About this report →
- Intellectual DisabilityReads 4 of these genesASXL1KAT6AATRXKDM5CAbout this report →
- Cutis LaxaReads 1 of these genesALDH18A1About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesATRXAbout this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesRTN2SPTAN1About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMTRRAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesATL1About this report →
- Syndromic CraniosynostosisReads 1 of these genesKAT6AAbout this report →
- Congenital Disorders of GlycosylationReads 2 of these genesPIGASLC35C1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesTUBA4AAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesRNU7-1About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesAFG3L2PNPT1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesAFG3L2About this report →
- Female InfertilityReads 1 of these genesTUBA4AAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesGDAP2About this report →
- Hearing Loss and DeafnessReads 1 of these genesPNPT1About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesRNU7-1About this report →
Vienu tyrimu sužinokite genus, susijusius su Lower limb hypertonia, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test46 genų susiję su Lower limb hypertonia
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Lower limb hypertonia. 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 |
|---|---|---|
| CLDN11claudin 11 | Visada | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KIDINS220kinase D interacting substrate 220 | Visada | 1 ligoje |
| KIF5Akinesin family member 5A | Visada | 1 ligoje |
| LBRlamin B receptor | Visada | 1 ligoje |
| MALmal, T cell differentiation protein (MAL blood group) | Visada | 1 ligoje |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Visada | 1 ligoje |
| RBSNrabenosyn, RAB effector | Visada | 1 ligoje |
| RTN2reticulon 2 | Visada | 1 ligoje |
| SMG9SMG9 nonsense mediated mRNA decay factor | Visada | 1 ligoje |
| TMEM63Btransmembrane protein 63B | Visada | 1 ligoje |
| TUBA4Atubulin alpha 4a | Visada | 1 ligoje |
| VPS37AVPS37A subunit of ESCRT-I | Visada | 1 ligoje |
| SLC33A1solute carrier family 33 member 1 | Labai dažnai (80–99%) | 1 ligoje |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Labai dažnai (80–99%) | 2 ligose |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Dažnai (30–79%) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Dažnai (30–79%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Dažnai (30–79%) | 1 ligoje |
| FA2Hfatty acid 2-hydroxylase | Dažnai (30–79%) | 1 ligoje |
| GDAP2ganglioside induced differentiation associated protein 2 | Dažnai (30–79%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 1 ligoje |
| MTPAPmitochondrial poly(A) polymerase | Dažnai (30–79%) | 2 ligose |
| RARS1arginyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| KDM1Alysine demethylase 1A | Kartais (5–29%) | 2 ligose |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Kartais (5–29%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Kartais (5–29%) | 1 ligoje |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Kartais (5–29%) | 1 ligoje |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Kartais (5–29%) | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Kartais (5–29%) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Kartais (5–29%) | 1 ligoje |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Kartais (5–29%) | 1 ligoje |
| SLC35C1solute carrier family 35 member C1 | Kartais (5–29%) | 1 ligoje |
| SLC39A14solute carrier family 39 member 14 | Kartais (5–29%) | 1 ligoje |
| TSEN15tRNA splicing endonuclease subunit 15 | Kartais (5–29%) | 1 ligoje |
| TSEN2tRNA splicing endonuclease subunit 2 | Kartais (5–29%) | 1 ligoje |
Rodyti dar 6 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TSEN34tRNA splicing endonuclease subunit 34 | Kartais (5–29%) | 1 ligoje |
| TSEN54tRNA splicing endonuclease subunit 54 | Kartais (5–29%) | 1 ligoje |
| ATL1atlastin GTPase 1 | Retai (1–4 %) | 1 ligoje |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 1 ligoje |
| KDM5Clysine demethylase 5C | 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.
Platesni požymiai
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.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
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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Nemokamas pristatymas · Rezultatai per 6–8 savaites
