Tratto
Shorter than typical length between neck and abdomen
Nome clinico: Short thorax
Reduced inferior to superior extent of the thorax.
Riepilogo
- Sistema corporeo
- Abnormality of the musculoskeletal system
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page$trait$nameLeggi i geni collegati a Shorter than typical length between neck and abdomen e il resto del tuo genoma con un unico test.
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Ottieni il mio Genome Test41 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.
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 6 of these genesIFT122IFT52EVCEVC2WDR19WDR35About this report →
- Achondrogenesis panelReads 3 of these genesTRIP11COL2A1SLC26A2About this report →
- Syndromic CraniosynostosisReads 6 of these genesIFT122IFT52FGFR3RNU12WDR19WDR35About this report →
- ACAN-Related Short StatureReads 1 of these genesACANAbout this report →
Show 37 more reports
- Asphyxiating Thoracic Dystrophy 2 (IFT80)Reads 1 of these genesIFT80About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)Reads 1 of these genesDYNC2H1About this report →
- Meier-Gorlin Syndrome 3 (ORC6)Reads 1 of these genesORC6About this report →
- NADSYN1-Related Congenital NAD Deficiency (VCRL Syndrome 3)Reads 1 of these genesNADSYN1About this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Short-Rib Thoracic Dysplasia 11 (DYNC2I2)Reads 1 of these genesDYNC2I2About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Short-Rib Thoracic Dysplasia 8 (DYNC2I1)Reads 1 of these genesDYNC2I1About this report →
- SLC10A7-Related Skeletal Dysplasia With Amelogenesis ImperfectaReads 1 of these genesSLC10A7About this report →
- TRPV4-Related Skeletal DysplasiasReads 1 of these genesTRPV4About this report →
- Müllerian Aplasia (MRKH Syndrome)Reads 1 of these genesTBX6About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL2A1About this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 2 of these genesCOL2A1SLC26A2About this report →
- Fraser SyndromeReads 1 of these genesFREM2About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- Congenital Disorders of GlycosylationReads 5 of these genesHES7DLL3LFNGMESP2RIPPLY2About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 2 of these genesTTC21BWDR19About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesNEU1About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Cutis LaxaReads 1 of these genesLTBP1About this report →
- Retinitis PigmentosaReads 2 of these genesIFT140IFT172About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesIFT172About this report →
- VitreoretinopathyReads 1 of these genesCOL2A1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesSLC2A1About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesCEP120About this report →
- Epilepsy (Full Panel)Reads 2 of these genesFLNASLC2A1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesIARS2TRPV4About this report →
- Lysosomal Storage DiseaseReads 1 of these genesNEU1About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesTRPV4About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesRMRPAbout this report →
- Intellectual DisabilityReads 1 of these genesMBD5About this report →
Leggi i geni collegati a Shorter than typical length between neck and abdomen e il resto del tuo genoma con un unico test.
A partire da 449 $Spedizione gratuita · Risultati in 6–8 settimane
Ottieni il mio Genome Test51 geni collegati a Shorter than typical length between neck and abdomen
Alterazioni in questi geni causano malattie rare in cui si osserva Shorter than typical length between neck and abdomen. La maggior parte delle persone con questo tratto non presenta nessuna di tali condizioni, e un gene di questo elenco non dice nulla sul genoma di nessuno in particolare.
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Sempre | In 2 condizioni |
| DMRT2doublesex and mab-3 related transcription factor 2 | Sempre | In 1 condizione |
| HES7hes family bHLH transcription factor 7 | Sempre | In 2 condizioni |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sempre | In 1 condizione |
| IFT122intraflagellar transport 122 | Sempre | In 1 condizione |
| IFT52intraflagellar transport 52 | Sempre | In 1 condizione |
| TRIP11thyroid hormone receptor interactor 11 | Sempre | In 2 condizioni |
| ACANaggrecan | Molto spesso (80–99%) | In 1 condizione |
| BMPERBMP binding endothelial regulator | Molto spesso (80–99%) | In 1 condizione |
| CEP120centrosomal protein 120 | Molto spesso (80–99%) | In 1 condizione |
| COL2A1collagen type II alpha 1 chain | Molto spesso (80–99%) | In 2 condizioni |
| DLL3delta like canonical Notch ligand 3 | Molto spesso (80–99%) | In 1 condizione |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Molto spesso (80–99%) | In 2 condizioni |
| DYNC2I1dynein 2 intermediate chain 1 | Molto spesso (80–99%) | In 2 condizioni |
| DYNC2I2dynein 2 intermediate chain 2 | Molto spesso (80–99%) | In 2 condizioni |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Molto spesso (80–99%) | In 2 condizioni |
| EVCEvC ciliary complex subunit 1 | Molto spesso (80–99%) | In 1 condizione |
| EVC2EvC ciliary complex subunit 2 | Molto spesso (80–99%) | In 1 condizione |
| FGFR3fibroblast growth factor receptor 3 | Molto spesso (80–99%) | In 1 condizione |
| FLNAfilamin A | Molto spesso (80–99%) | In 2 condizioni |
| GLI1GLI family zinc finger 1 | Molto spesso (80–99%) | In 1 condizione |
| IFT140intraflagellar transport 140 | Molto spesso (80–99%) | In 2 condizioni |
| IFT172intraflagellar transport 172 | Molto spesso (80–99%) | In 1 condizione |
| IFT80intraflagellar transport 80 | Molto spesso (80–99%) | In 2 condizioni |
| KIAA0753KIAA0753 | Molto spesso (80–99%) | In 1 condizione |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Molto spesso (80–99%) | In 1 condizione |
| MESP2mesoderm posterior bHLH transcription factor 2 | Molto spesso (80–99%) | In 1 condizione |
| NEU1neuraminidase 1 | Molto spesso (80–99%) | In 1 condizione |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Molto spesso (80–99%) | In 1 condizione |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Molto spesso (80–99%) | In 1 condizione |
| PTH1Rparathyroid hormone 1 receptor | Molto spesso (80–99%) | In 1 condizione |
| RIPPLY2ripply transcriptional repressor 2 | Molto spesso (80–99%) | In 1 condizione |
| RNU12RNA, U12 small nuclear | Molto spesso (80–99%) | In 1 condizione |
| SLC26A2solute carrier family 26 member 2 | Molto spesso (80–99%) | In 1 condizione |
| TBX6T-box transcription factor 6 | Molto spesso (80–99%) | In 2 condizioni |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Molto spesso (80–99%) | In 1 condizione |
| TTC21Btetratricopeptide repeat domain 21B | Molto spesso (80–99%) | In 1 condizione |
| WDR19WD repeat domain 19 | Molto spesso (80–99%) | In 1 condizione |
| WDR35WD repeat domain 35 | Molto spesso (80–99%) | In 1 condizione |
| CUL7cullin 7 | Spesso (30–79%) | In 2 condizioni |
Mostra altri 11 geni
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| DYMdymeclin | Spesso (30–79%) | In 1 condizione |
| MBD5methyl-CpG binding domain protein 5 | Spesso (30–79%) | In 1 condizione |
| OBSL1obscurin like cytoskeletal adaptor 1 | Spesso (30–79%) | In 2 condizioni |
| FREM2FRAS1 related extracellular matrix 2 | A volte (5–29%) | In 1 condizione |
| IHHIndian hedgehog signaling molecule | A volte (5–29%) | In 1 condizione |
| LTBP1latent transforming growth factor beta binding protein 1 | A volte (5–29%) | In 1 condizione |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | A volte (5–29%) | In 1 condizione |
| SLC2A1solute carrier family 2 member 1 | A volte (5–29%) | In 1 condizione |
| NADSYN1NAD synthetase 1 | Non registrato | In 1 condizione |
| ORC6origin recognition complex subunit 6 | Non registrato | In 1 condizione |
| SLC10A7solute carrier family 10 member 7 | Non registrato | In 1 condizione |
Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.
Tratti più generali
Fonte dei dati
- Human Phenotype Ontology, versione 2026-09-01: il tratto, i suoi nomi, la sua definizione e i geni a esso collegati. Per saperne di più visiti hpo.jax.org.
- Versione dei dati 2026.10.19-9814e911.
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