X-linked osteoporosis with fractures (PLS3-related)
Early-onset osteoporosis with fractures, including vertebral fractures, caused by PLS3 variants; males are usually more severely affected than females.
Analyzované geny
Komu pomáhámeNaše vědaProduktyVýsledky
Přihlásit seZeptat seZačítod 449 $
Zpráva o onemocněních · Musculoskeletal
Early-Onset Osteoporosis
Rare single-gene conditions that cause low bone density and fractures from childhood or early adulthood. They are different from common age-related osteoporosis, and this report does not estimate risk for the common form.
Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.
Komu pomáhámeNaše vědaProduktyVýsledky
Přihlásit seZeptat seZačítod 449 $
Součástí tarifů Premium a Premium + AI
Tarif Premium přidá 99 $ za sadu v prvním roce.
Objednat s tarifem PremiumSoučástí tarifů Premium a Premium + AI
Tarif Premium přidá 99 $ za sadu v prvním roce.
Objednat s tarifem PremiumVšech 4 onemocnění, která analyzujeme
- X-linked osteoporosis with fractures (PLS3-related)
- LRP5-related primary osteoporosis
- Childhood- or juvenile-onset osteoporosis with developmental delay (COPB2-related)
- Early-onset osteoporosis (WNT1-related)
LRP5-related primary osteoporosis
Autozomálně dominantní
Low bone density and fractures from childhood or early adulthood caused by loss-of-function variants in LRP5.
Childhood- or juvenile-onset osteoporosis with developmental delay (COPB2-related)
Autozomálně dominantní
Osteoporosis with fractures beginning in childhood, together with developmental delay, caused by COPB2 variants.
Analyzované geny
Early-onset osteoporosis (WNT1-related)
Autozomálně dominantní
Childhood or young-adult osteoporosis with fractures linked to WNT1 variants.
Analyzované geny
Známé také jako
IJO; juvenile osteoporosis; Paediatric osteoporosis; Pediatric osteoporosis
Další musculoskeletal conditions
- 3MC Syndrome 1 (MASP1)MASP1
- ACAN-Related Short StatureACAN
- ACCES Syndrome (UBA2)UBA2
- Aarskog-Scott SyndromeFGD1
- Achondrogenesis panelCOL2A1, GDF5, SLC26A2, TRIP11
- Acromelic Frontonasal DysostosisZSWIM6
- Adams-Oliver SyndromeARHGAP31, DLL4, DOCK6, EOGT
- Asphyxiating Thoracic Dystrophy 2 (IFT80)IFT80
- Auriculocondylar Syndrome 2 (PLCB4)PLCB4
- Bailey-Bloch Congenital MyopathySTAC3
- Bent Bone Dysplasia Syndrome (FGFR2)FGFR2
- CHRNG-Related Multiple Pterygium SyndromeCHRNG
- Caffey DiseaseCOL1A1
- Campomelic DysplasiaSOX9
- Carey-Fineman-Ziter SyndromeMYMK, MYMX
- Catel-Manzke SyndromeTGDS
- Cenani-Lenz Syndactyly SyndromeLRP4
- CherubismSH3BP2
- Cleidocranial DysplasiaCBFB, RUNX2
- Congenital Muscular DystrophiesB3GALNT2, B4GAT1, CHKB, COL12A1
- Congenital MyopathiesACTA1, BIN1, CFL2, DNM2
- Cornelia de Lange SyndromeBRD4, HDAC8, NIPBL, RAD21
- Craniofrontonasal SyndromeEFNB1
- Curry-Jones Syndrome (Mosaic SMO Syndrome)SMO
- Desbuquois Dysplasia 1CANT1
- Distal MyopathiesADSS1, ANO5, CRYAB, DNAJB4
- Dyssegmental Dysplasia, Silverman-Handmaker TypeHSPG2
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)DMD
- Ehlers-Danlos SyndromeADAMTS2, AEBP1, B3GALT6, B4GALT7
- Elsahy-Waters SyndromeCDH11
- Enlarged Parietal Foramina (MSX2)ALX4, MSX2
- Epiphyseal and Spondyloepiphyseal DysplasiasCOL2A1, COL9A1, COL9A2, COL9A3
- FAM111A-Related Skeletal DysplasiaFAM111A
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)FGFR3
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)FLNB, GZF1
- Facioscapulohumeral Muscular Dystrophy (FSHD)
- Familial Paget Disease of BoneSQSTM1, TNFRSF11A, TNFRSF11B, ZNF687
- Feingold Syndrome Type 1MYCN
- Floating-Harbor SyndromeSRCAP
- Fontaine Progeroid SyndromeSLC25A24, SLC25A4
- Frank-Ter Haar SyndromeSH3PXD2B
- Frontonasal Dysplasia with Alopecia and Genital Anomaly (ALX4)ALX4
- FrontorhinyALX3
- Ghosal Haematodiaphyseal DysplasiaTBXAS1
- Greig Cephalopolysyndactyly SyndromeGLI3
- HAAO-Related Congenital NAD DeficiencyHAAO
- Hajdu-Cheney SyndromeNOTCH2
- Hand-Foot-Genital SyndromeHOXA13
- Hereditary FibromatosesANTXR2, PDGFRB
- Hereditary Multiple OsteochondromasEXT1, EXT2
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)CYP27B1, CYP2R1, DMP1, ENPP1
- INTU-Related Skeletal CiliopathyINTU
- Inherited ArthropathiesANKH, PRG4
- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)DYNC2H1
- KYNU-Related Congenital NAD DeficiencyKYNU
- Kabuki SyndromeKDM6A, KMT2D
- Keutel SyndromeMGP
- Klippel-Feil Anomaly with Myopathy (MYO18B)MYO18B
- LPIN1-Related Recurrent RhabdomyolysisLPIN1
- Lethal Congenital Contracture Syndrome 11 (GLDN)GLDN
- Limb-Girdle Muscular DystrophyANO5, CAPN3, CAV3, COL6A1
- MEGF10-Related MyopathyMEGF10
- MTX2-Related Mandibuloacral DysplasiaMTX2
- MYH2-Related MyopathyMYH2
- Mandibulofacial Dysostosis with MicrocephalyEFTUD2
- Marfan Like SyndromesBGN, FBN1, FBN2, SKI
- Marshall-Smith SyndromeNFIX
- Meier-Gorlin Syndrome 3 (ORC6)ORC6
- Meier-Gorlin Syndrome 4CDT1
- Meier-Gorlin Syndrome 7 (CDC45)CDC45
- Microcephalic Osteodysplastic Primordial Dwarfism Type IIPCNT
- Miller Syndrome (Postaxial Acrofacial Dysostosis)DHODH
- Mulibrey NanismTRIM37
- Multiple Synostoses Syndrome (FGF9)FGF9, GDF5, GDF6, NOG
- Myofibrillar MyopathiesBAG3, CRYAB, DES, FLNC
- NADSYN1-Related Congenital NAD Deficiency (VCRL Syndrome 3)NADSYN1
- NOG-Related Symphalangism Spectrum DisorderNOG
- Nail-Patella SyndromeLMX1B
- OpsismodysplasiaINPPL1
- Osteoarthritis
- Osteogenesis ImperfectaANO5, ATP6V0A2, BMP1, COL1A1
- OsteopetrosisAMER1, CA2, CLCN7, CTSK
- Otospondylomegaepiphyseal Dysplasia (OSMED)COL11A2, COL2A1
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)DNMT3A, EZH2, NFIX, NSD1
- Polyglucosan Body Myopathy 1 (RBCK1)RBCK1
- Polyglucosan Body Myopathy 2 (GYG1)GYG1
- Progressive Pseudorheumatoid DysplasiaCCN6
- RNU4ATAC Spectrum DisorderRNU4ATAC
- Raine SyndromeFAM20C
- Rheumatoid Arthritis
- Roberts SyndromeESCO2
- SCN4A-Related Congenital MyopathySCN4A
- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)SF3B4
- SHOX Deficiency (Leri-Weill and Langer Dysplasia)SHOX
- SLC10A7-Related Skeletal Dysplasia With Amelogenesis ImperfectaSLC10A7
- SMAD6-Related DisorderSMAD6
- Saul-Wilson SyndromeCOG4
- Schmid Metaphyseal ChondrodysplasiaCOL10A1
- Schwartz-Jampel Syndrome Type 1HSPG2
- Sclerosing Bone Dysplasias (High Bone Mass)LRP5, MTAP, SFRP4, SOST
- Short-Rib Thoracic Dysplasia 11 (DYNC2I2)DYNC2I2
- Short-Rib Thoracic Dysplasia 7 (WDR35)WDR35
- Short-Rib Thoracic Dysplasia 8 (DYNC2I1)DYNC2I1
- Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification TypeDDR2
- Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 3EXOC6B
- Spondyloepimetaphyseal Dysplasia, Genevieve TypeNANS
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsCHST3
- Spondyloepiphyseal Dysplasia, Kondo-Fu TypeMBTPS1
- Spondylometaphyseal Dysplasia With Cone-Rod DystrophyPCYT1A
- Stüve-Wiedemann SyndromeLIFR
- Syndromic CraniosynostosisCYP26B1, ERF, FGFR1, FGFR2
- TARP SyndromeRBM10
- TOR1AIP1-Related Multisystem DisorderTOR1AIP1
- TOR1AIP1-Related MyopathyTOR1AIP1
- TRIP11-Related Skeletal DysplasiaMIA3, TRIP11
- TRPV4-Related Skeletal DysplasiasTRPV4
- Tubular Aggregate MyopathyORAI1, STIM1
- Ulnar-Mammary SyndromeTBX3
- X-Linked Chondrodysplasia Punctata 1ARSL
- ZIC1-Related CraniosynostosisZIC1
Komu pomáhámeNaše vědaProduktyVýsledky
Přihlásit seZeptat seZačítod 449 $
Jeden test. Odpovědi na celý život.
Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.
Od 449 $
Doprava zdarma · Výsledky za 6–8 týdnů
Tarif Premium přidá 99 $ za sadu v prvním roce.
