AtlasTunnus
Small shoulder blade
Kliiniline nimetus: Hypoplastic scapulae
Underdeveloped scapula.
Kokkuvõte
- Teised nimetused
- Hypoplastic scapula, Scapular hypoplasia, Short scapulae, Small scapula, Small scapulae
- Kehasüsteem
- Abnormality of the musculoskeletal system
AtlasSelle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/hypoplastic-scapulae.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Small shoulder blade-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test36 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.
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 2 of these genesCOL11A2COL2A1About this report →
- Achondrogenesis panelReads 2 of these genesCOL2A1TRIP11About this report →
- Campomelic DysplasiaReads 1 of these genesSOX9About this report →
- Microcephalic Osteodysplastic Primordial Dwarfism Type IIReads 1 of these genesPCNTAbout this report →
Show 32 more reports
- OpsismodysplasiaReads 1 of these genesINPPL1About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Ulnar-Mammary SyndromeReads 1 of these genesTBX3About this report →
- Cleidocranial DysplasiaReads 1 of these genesRUNX2About this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Syndromic CraniosynostosisReads 3 of these genesPORFGFR1WDR35About this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 1 of these genesRIPK4About this report →
- Inherited Congenital Heart DefectsReads 2 of these genesTBX5FLNAAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- VitreoretinopathyReads 2 of these genesCOL11A1COL2A1About this report →
- Congenital Adrenal HyperplasiaReads 1 of these genesPORAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR35About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesCOL2A1About this report →
- Type I InterferonopathiesReads 1 of these genesPSMB8About this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesACTBAbout this report →
- Inherited IchthyosesReads 1 of these genesNSDHLAbout this report →
- Hearing Loss and DeafnessReads 2 of these genesCOL11A1COL11A2About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Inherited ThrombocytopeniasReads 1 of these genesACTBAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesPSMB8About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesACTBAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesFGFR1About this report →
- Lysosomal Storage DiseaseReads 1 of these genesGNPTABAbout this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesFIG4About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesSLC35D1About this report →
- Epilepsy (Full Panel)Reads 1 of these genesFLNAAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesFIG4About this report →
- Intellectual DisabilityReads 1 of these genesNSDHLAbout this report →
- Inherited Neurodegenerative DisordersReads 1 of these genesFIG4About this report →
Lugege välja geenid, mis on seotud Small shoulder blade-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test29 geeni on seotud tunnusega Small shoulder blade
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Small shoulder blade. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACTBactin beta | Alati | Esineb 2 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Alati | Esineb 1 haiguses |
| TBX15T-box transcription factor 15 | Alati | Esineb 2 haiguses |
| TBX5T-box transcription factor 5 | Alati | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC35D1solute carrier family 35 member D1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL11A1collagen type XI alpha 1 chain | Sageli (30–79%) | Esineb 3 haiguses |
| COL11A2collagen type XI alpha 2 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| SOX9SRY-box transcription factor 9 | Sageli (30–79%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GSCgoosecoid homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Mõnikord (5–29%) | Esineb 1 haiguses |
| PCNTpericentrin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSMB8proteasome 20S subunit beta 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RIPK4receptor interacting serine/threonine kinase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RSPO2R-spondin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RUNX2RUNX family transcription factor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SCARF2scavenger receptor class F member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYMdymeclin | Pole registreeritud | Esineb 2 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Pole registreeritud | Esineb 1 haiguses |
| FLNAfilamin A | Pole registreeritud | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Pole registreeritud | Esineb 1 haiguses |
| TBX3T-box transcription factor 3 | Pole registreeritud | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Pole registreeritud | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.19-9814e911.
AtlasFrom traits to your genome
Read the genes behind these traits in your own DNA.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
