AtlasPožymis
Scaphocephaly
Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.
Santrauka
AtlasŠi puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/scaphocephaly.json"
page <- fromJSON(url)
page$trait$nameVienu tyrimu sužinokite genus, susijusius su Scaphocephaly, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test35 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.
- Familial Periodic ParalysisReads 2 of these genesSCN4AKCNJ2About this report →
- Mucopolysaccharidosis Type II (Hunter Syndrome)Reads 1 of these genesIDSAbout this report →
- Syndromic CraniosynostosisReads 4 of these genesIFT43IL11RAIFT122TWIST1About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 2 of these genesIFT43IFT122About this report →
Show 31 more report
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Marfan Like SyndromesReads 2 of these genesFBN1FBN2About this report →
- Familial Atrial FibrillationReads 1 of these genesKCNJ2About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNFIXAbout this report →
- Short Qt SyndromeReads 1 of these genesKCNJ2About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesHSD17B4About this report →
- Congenital Myasthenic SyndromeReads 2 of these genesSCN4AALG14About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Congenital Cranial Dysinnervation DisordersReads 1 of these genesCOL25A1About this report →
- Hyper-IgE SyndromeReads 1 of these genesIL6STAbout this report →
- Long QT SyndromeReads 1 of these genesKCNJ2About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX19About this report →
- Monogenic Hypertension & Mineralocorticoid DisordersReads 1 of these genesKCNJ5About this report →
- Cutis LaxaReads 1 of these genesATP6V0A2About this report →
- Retinitis PigmentosaReads 2 of these genesIFT43IFT140About this report →
- Congenital MyopathiesReads 1 of these genesRYR1About this report →
- Autoimmune DiseaseReads 1 of these genesKRASAbout this report →
- Noonan SyndromeReads 1 of these genesKRASAbout this report →
- Congenital Disorders of GlycosylationReads 2 of these genesATP6V0A2ALG14About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesGLI3About this report →
- Osteogenesis ImperfectaReads 1 of these genesATP6V0A2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesSCN4AAbout this report →
- Female InfertilityReads 1 of these genesHSD17B4About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesIL6STKRASAbout this report →
- Intellectual DisabilityReads 2 of these genesASXL3RFX7About this report →
- Lysosomal Storage DiseaseReads 1 of these genesIDSAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesKRASAbout this report →
- Other Inherited LeukodystrophiesReads 1 of these genesPEX19About this report →
Vienu tyrimu sužinokite genus, susijusius su Scaphocephaly, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test41 genas susijęs su Scaphocephaly
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Scaphocephaly. 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 |
|---|---|---|
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Visada | 1 ligoje |
| DPH1diphthamide biosynthesis 1 | Visada | 2 ligose |
| IL6STinterleukin 6 cytokine family signal transducer | Visada | 1 ligoje |
| RYR1ryanodine receptor 1 | Visada | 1 ligoje |
| SCARF2scavenger receptor class F member 2 | Visada | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Labai dažnai (80–99%) | 1 ligoje |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Dažnai (30–79%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Dažnai (30–79%) | 1 ligoje |
| KPTNkaptin, actin binding protein | Dažnai (30–79%) | 2 ligose |
| TBC1D7TBC1 domain family member 7 | Dažnai (30–79%) | 1 ligoje |
| TRAIPTRAF interacting protein | Dažnai (30–79%) | 1 ligoje |
| ARCN1archain 1 coat protein complex I subunit delta | Kartais (5–29%) | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Kartais (5–29%) | 1 ligoje |
| COL25A1collagen type XXV alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| DPH2diphthamide biosynthesis 2 | Kartais (5–29%) | 1 ligoje |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Kartais (5–29%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Kartais (5–29%) | 1 ligoje |
| IL11RAinterleukin 11 receptor subunit alpha | Kartais (5–29%) | 1 ligoje |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Kartais (5–29%) | 1 ligoje |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Kartais (5–29%) | 1 ligoje |
| KIF15kinesin family member 15 | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| PRIM1DNA primase subunit 1 | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| SCYL2SCY1 like pseudokinase 2 | Kartais (5–29%) | 1 ligoje |
| SOX6SRY-box transcription factor 6 | Kartais (5–29%) | 1 ligoje |
| AGO2argonaute RISC catalytic component 2 | Retai (1–4 %) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Retai (1–4 %) | 2 ligose |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| CNTN1contactin 1 | Neužfiksuota | 1 ligoje |
| FBN1fibrillin 1 | Neužfiksuota | 1 ligoje |
| FBN2fibrillin 2 | Neužfiksuota | 1 ligoje |
| IDSiduronate 2-sulfatase | Neužfiksuota | 1 ligoje |
| IFT122intraflagellar transport 122 | Neužfiksuota | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Neužfiksuota | 1 ligoje |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Neužfiksuota | 1 ligoje |
Rodyti dar 1 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TWIST1twist family bHLH transcription factor 1 | 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 2026.10.17-8666dff2.
AtlasFrom traits to your genome
Read the genes behind these traits in your own DNA.
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Nemokamas pristatymas · Rezultatai per 6–8 savaites
