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Cecha
Spastic diplegia
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
Podsumowanie
- Znana także jako
- Spastic diparesis, Spastic diplegic
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library(jsonlite)
url <- "https://dantelabs.com/traits/spastic-diplegia.json"
page <- fromJSON(url)
page$trait$nameSpastic diplegiaHP:0001264
AtlasDla kogo jest Dante LabsNasza naukaProduktyWyniki
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Odczytaj geny powiązane z Spastic diplegia oraz resztę swojego genomu za pomocą jednego badania.
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Zamawiam Genome Test54 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.
- Amyotrophic Lateral Sclerosis (ALS)Reads 8 of these genesALS2FUSSIGMAR1SPG11SPTLC1SPTLC2About this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- HSD10 Mitochondrial DiseaseReads 1 of these genesHSD17B10About this report →
- HyperlysinaemiaReads 1 of these genesAASSAbout this report →
Show 50 more reports
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- NDE1-Related MicrolissencephalyReads 1 of these genesNDE1About this report →
- Purine Nucleoside Phosphorylase DeficiencyReads 1 of these genesPNPAbout this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- Inherited Neurodegenerative DisordersReads 18 of these genesALDH3A2AARS1ALS2ATP13A2DARS1ERLIN1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 4 of these genesRAB3GAP1RAB3GAP2BCORSOX2About this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Other Inherited LeukodystrophiesReads 6 of these genesALDH3A2AARS1DARS1GALCRNU7-1PSAPAbout this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 2 of these genesELP2ADD3About this report →
- Rare Hereditary Peripheral NeuropathiesReads 10 of these genesAARS1GALCPDHXSIGMAR1SORDSPG11About this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesRAB3GAP1RAB3GAP2NDE1About this report →
- TubulinopathiesReads 1 of these genesTUBB3About this report →
- Intellectual DisabilityReads 7 of these genesELP2AP1S2PQBP1TAF1CTNNB1HUWE1About this report →
- Charcot-Marie-Tooth DiseaseReads 4 of these genesAARS1SIGMAR1SORDSPG11About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 2 of these genesSPTLC1SPTLC2About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 2 of these genesAP1S2RNU4-2About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesHSD17B4About this report →
- Lysosomal Storage DiseaseReads 3 of these genesGALCGNEPSAPAbout this report →
- Classic Organic AciduriasReads 1 of these genesGCDHAbout this report →
- Congenital Cranial Dysinnervation DisordersReads 1 of these genesTUBB3About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesATP13A2ERLIN1SPG11About this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesRNU7-1About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesGLRX5About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 2 of these genesRNU7-1ACP5About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHXAbout this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesATP13A2About this report →
- Type I InterferonopathiesReads 1 of these genesACP5About this report →
- Urea Cycle DisorderReads 1 of these genesSLC25A15About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesATP13A2About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesTUBB3About this report →
- Parkinson DiseaseReads 1 of these genesATP13A2About this report →
- Distal MyopathiesReads 1 of these genesGNEAbout this report →
- Epilepsy (Full Panel)Reads 3 of these genesAARS1FLNANTRK2About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesDARS1About this report →
- VitreoretinopathyReads 1 of these genesCTNNB1About this report →
- Spinal Muscular AtrophyReads 1 of these genesSIGMAR1About this report →
- Inherited ThrombocytopeniasReads 1 of these genesGNEAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesTAF1About this report →
- Dilated CardiomyopathyReads 1 of these genesSYNE1About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesRAB3GAP2About this report →
- Female InfertilityReads 1 of these genesHSD17B4About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesSYNE1About this report →
- Leigh SyndromeReads 1 of these genesPDHXAbout this report →
- Congenital Disorders of GlycosylationReads 1 of these genesGNEAbout this report →
- Primary Mitochondrial DiseaseReads 1 of these genesCOXFA4About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesRNU7-1About this report →
Odczytaj geny powiązane z Spastic diplegia oraz resztę swojego genomu za pomocą jednego badania.
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Zamawiam Genome Test57 genów powiązanych z Spastic diplegia
Zmiany w tych genach powodują rzadkie choroby, w których występuje Spastic diplegia. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| CFAP20cilia and flagella associated protein 20 | Zawsze | W 1 chorobie |
| ELP2elongator acetyltransferase complex subunit 2 | Zawsze | W 1 chorobie |
| LRRC7leucine rich repeat containing 7 | Zawsze | W 1 chorobie |
| MSL2MSL complex subunit 2 | Zawsze | W 1 chorobie |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Zawsze | W 2 chorobach |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Zawsze | W 2 chorobach |
| UNC13Aunc-13 homolog A | Zawsze | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Bardzo często (80–99%) | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Bardzo często (80–99%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Często (30–79%) | W 2 chorobach |
| ATP13A2ATPase cation transporting 13A2 | Często (30–79%) | W 1 chorobie |
| DARS1aspartyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| ERLIN1ER lipid raft associated 1 | Często (30–79%) | W 1 chorobie |
| FUSFUS RNA binding protein | Często (30–79%) | W 1 chorobie |
| GALCgalactosylceramidase | Często (30–79%) | W 2 chorobach |
| GLRX5glutaredoxin 5 | Często (30–79%) | W 2 chorobach |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Często (30–79%) | W 1 chorobie |
| NDE1nudE neurodevelopment protein 1 | Często (30–79%) | W 1 chorobie |
| PDHXpyruvate dehydrogenase complex component X | Często (30–79%) | W 1 chorobie |
| PQBP1polyglutamine binding protein 1 | Często (30–79%) | W 1 chorobie |
| SIGMAR1sigma receptor chaperone 1 | Często (30–79%) | W 1 chorobie |
| SLC25A15solute carrier family 25 member 15 | Często (30–79%) | W 1 chorobie |
| SORDsorbitol dehydrogenase | Często (30–79%) | W 1 chorobie |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Często (30–79%) | W 1 chorobie |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Często (30–79%) | W 1 chorobie |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Często (30–79%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Często (30–79%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Często (30–79%) | W 2 chorobach |
| TARDBPTAR DNA binding protein | Często (30–79%) | W 1 chorobie |
| TRMT2BtRNA methyltransferase 2B | Często (30–79%) | W 1 chorobie |
| UBQLN2ubiquilin 2 | Często (30–79%) | W 1 chorobie |
| AASSaminoadipate-semialdehyde synthase | Czasami (5–29%) | W 2 chorobach |
| CTNNB1catenin beta 1 | Czasami (5–29%) | W 1 chorobie |
| FLNAfilamin A | Czasami (5–29%) | W 1 chorobie |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Czasami (5–29%) | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Czasami (5–29%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
Pokaż jeszcze 17 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| NTRK2neurotrophic receptor tyrosine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| RNU7-1RNA, U7 small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| TANGO2transport and golgi organization 2 homolog | Czasami (5–29%) | W 1 chorobie |
| TUBB3tubulin beta 3 class III | Czasami (5–29%) | W 1 chorobie |
| PSAPprosaposin | Rzadko (1–4%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Rzadko (1–4%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| ACP5acid phosphatase 5, tartrate resistant | Nie odnotowano | W 1 chorobie |
| ADD3adducin 3 | Nie odnotowano | W 1 chorobie |
| BCORBCL6 corepressor | Nie odnotowano | W 1 chorobie |
| COXFA4cytochrome c oxidase associated subunit FA4 | Nie odnotowano | W 1 chorobie |
| GCDHglutaryl-CoA dehydrogenase | Nie odnotowano | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Nie odnotowano | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nie odnotowano | W 1 chorobie |
| PNPpurine nucleoside phosphorylase | Nie odnotowano | W 1 chorobie |
| SIX6SIX homeobox 6 | Nie odnotowano | W 1 chorobie |
| SOX2SRY-box transcription factor 2 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.19-9814e911.
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