AtlasKenmerk
Small shoulder blade
Klinische naam: Hypoplastic scapulae
Underdeveloped scapula.
Samenvatting
- Ook bekend als
- Hypoplastic scapula, Scapular hypoplasia, Short scapulae, Small scapula, Small scapulae
- Lichaamssysteem
- Abnormality of the musculoskeletal system
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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/hypoplastic-scapulae.json"
page <- fromJSON(url)
page$trait$nameLees de genen die aan Small shoulder blade gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen36 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 →
Lees de genen die aan Small shoulder blade gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen29 genen gekoppeld aan Small shoulder blade
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Small shoulder blade 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 |
|---|---|---|
| ACTBactin beta | Altijd | In 2 aandoeningen |
| FIG4FIG4 phosphoinositide 5-phosphatase | Altijd | In 1 aandoening |
| TBX15T-box transcription factor 15 | Altijd | In 2 aandoeningen |
| TBX5T-box transcription factor 5 | Altijd | In 1 aandoening |
| INPPL1inositol polyphosphate phosphatase like 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC35D1solute carrier family 35 member D1 | Heel vaak (80–99%) | In 2 aandoeningen |
| COL11A1collagen type XI alpha 1 chain | Vaak (30–79%) | In 3 aandoeningen |
| COL11A2collagen type XI alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| SOX9SRY-box transcription factor 9 | Vaak (30–79%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Soms (5–29%) | In 1 aandoening |
| GSCgoosecoid homeobox | Soms (5–29%) | In 1 aandoening |
| MEG3maternally expressed 3 | Soms (5–29%) | In 1 aandoening |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Soms (5–29%) | In 1 aandoening |
| PCNTpericentrin | Soms (5–29%) | In 1 aandoening |
| PORcytochrome p450 oxidoreductase | Soms (5–29%) | In 1 aandoening |
| PSMB8proteasome 20S subunit beta 8 | Soms (5–29%) | In 1 aandoening |
| RIPK4receptor interacting serine/threonine kinase 4 | Soms (5–29%) | In 1 aandoening |
| RSPO2R-spondin 2 | Soms (5–29%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Soms (5–29%) | In 1 aandoening |
| RUNX2RUNX family transcription factor 2 | Soms (5–29%) | In 2 aandoeningen |
| SCARF2scavenger receptor class F member 2 | Soms (5–29%) | In 1 aandoening |
| DYMdymeclin | Niet vastgelegd | In 2 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Niet vastgelegd | In 1 aandoening |
| FLNAfilamin A | Niet vastgelegd | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Niet vastgelegd | In 1 aandoening |
| TBX3T-box transcription factor 3 | Niet vastgelegd | In 1 aandoening |
| TRIP11thyroid hormone receptor interactor 11 | Niet vastgelegd | In 1 aandoening |
| WDR35WD repeat domain 35 | 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.
Smallere kenmerken
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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.
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