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Kenmerk
Lower limb hypertonia
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Deze pagina als gegevens
Voeg .json toe aan het adres van de pagina, of vraag application/json aan, om haar als JSON te lezen.
library(jsonlite)
url <- "https://dantelabs.com/traits/lower-limb-hypertonia.json"
page <- fromJSON(url)
page$trait$nameLower limb hypertoniaHP:0006895
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Lees de genen die aan Lower limb hypertonia gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen41 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.
- 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 →
Lees de genen die aan Lower limb hypertonia gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen46 genen gekoppeld aan Lower limb hypertonia
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Lower limb hypertonia voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| CLDN11claudin 11 | Altijd | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Altijd | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| KDM2Blysine demethylase 2B | Altijd | In 1 aandoening |
| KIDINS220kinase D interacting substrate 220 | Altijd | In 1 aandoening |
| KIF5Akinesin family member 5A | Altijd | In 1 aandoening |
| LBRlamin B receptor | Altijd | In 1 aandoening |
| MALmal, T cell differentiation protein (MAL blood group) | Altijd | In 1 aandoening |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altijd | In 1 aandoening |
| RBSNrabenosyn, RAB effector | Altijd | In 1 aandoening |
| RTN2reticulon 2 | Altijd | In 1 aandoening |
| SMG9SMG9 nonsense mediated mRNA decay factor | Altijd | In 1 aandoening |
| TMEM63Btransmembrane protein 63B | Altijd | In 1 aandoening |
| TUBA4Atubulin alpha 4a | Altijd | In 1 aandoening |
| VPS37AVPS37A subunit of ESCRT-I | Altijd | In 1 aandoening |
| SLC33A1solute carrier family 33 member 1 | Heel vaak (80–99%) | In 1 aandoening |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Heel vaak (80–99%) | In 2 aandoeningen |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Vaak (30–79%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Vaak (30–79%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Vaak (30–79%) | In 1 aandoening |
| FA2Hfatty acid 2-hydroxylase | Vaak (30–79%) | In 1 aandoening |
| GDAP2ganglioside induced differentiation associated protein 2 | Vaak (30–79%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Vaak (30–79%) | In 1 aandoening |
| MTPAPmitochondrial poly(A) polymerase | Vaak (30–79%) | In 2 aandoeningen |
| RARS1arginyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Vaak (30–79%) | In 1 aandoening |
| KDM1Alysine demethylase 1A | Soms (5–29%) | In 2 aandoeningen |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Soms (5–29%) | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Soms (5–29%) | In 1 aandoening |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Soms (5–29%) | In 1 aandoening |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Soms (5–29%) | In 1 aandoening |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Soms (5–29%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Soms (5–29%) | In 1 aandoening |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Soms (5–29%) | In 1 aandoening |
| SLC35C1solute carrier family 35 member C1 | Soms (5–29%) | In 1 aandoening |
| SLC39A14solute carrier family 39 member 14 | Soms (5–29%) | In 1 aandoening |
| TSEN15tRNA splicing endonuclease subunit 15 | Soms (5–29%) | In 1 aandoening |
| TSEN2tRNA splicing endonuclease subunit 2 | Soms (5–29%) | In 1 aandoening |
Toon nog 6 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| TSEN34tRNA splicing endonuclease subunit 34 | Soms (5–29%) | In 1 aandoening |
| TSEN54tRNA splicing endonuclease subunit 54 | Soms (5–29%) | In 1 aandoening |
| ATL1atlastin GTPase 1 | Zelden (1–4%) | In 1 aandoening |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Niet vastgelegd | In 1 aandoening |
| KDM5Clysine demethylase 5C | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.19-9814e911.
AtlasVoor wie we er zijnOnze wetenschapProductenResultaten
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