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.
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Betegségjelentés · 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.
A betegségjelentés olyan ritka variánsokat keres, amelyekről ismert, hogy okozzák az általa lefedett betegségeket.
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Rendelés Premium csomaggalA vizsgált 4 betegség
- 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
Autoszomális domináns
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)
Autoszomális domináns
Osteoporosis with fractures beginning in childhood, together with developmental delay, caused by COPB2 variants.
Vizsgált gének
Early-onset osteoporosis (WNT1-related)
Autoszomális domináns
Childhood or young-adult osteoporosis with fractures linked to WNT1 variants.
Vizsgált gének
Más néven
IJO; juvenile osteoporosis; Paediatric osteoporosis; Pediatric osteoporosis
További 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
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