Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

Genes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type

ACAN

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type

Short stature
Low-set ears
Brachydactyly
Macrocephaly
Short neck
Malar flattening
Midface retrusion
Severe short stature
Posteriorly rotated ears
Mandibular prognathia

And another 21 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Spondyloepimetaphyseal Dysplasia, Aggrecan Type Is also known as semd, aggrecan type.

Researches and researchers

Doctors, researchs, and experts related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type extracted from public data.

Spondyloepimetaphyseal Dysplasia, Aggrecan Type Experts map

Current Researchs and researchers

MANCHESTER — Pr Michael BRIGGS
Investigator of research project - Coordinator of research network
- Institution/s:
  — Faculty of of Life Sciences - University of Manchester
  — Newcastle University, Newcastle upon Tyne Hospitals NHS Trust
- Research area/topic::
  SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - UK

NEWCASTLE UPON TYNE — Pr Michael BRIGGS
Investigator of research project - Coordinator of research network
- Institution/s:
  — Faculty of of Life Sciences - University of Manchester
  — Newcastle University, Newcastle upon Tyne Hospitals NHS Trust
- Research area/topic::
  SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - UK

Spondyloepimetaphyseal Dysplasia, Aggrecan Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...) View the complete list with 236 more genes Panel complete gene list RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TGFB1, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT3, WNT5A, WNT7A, ZMPSTE24, ADAMTS10, LMBR1, HDAC8, NSDHL, IFT122, CA2, SOST, HDAC4, NSD1, RAB23, ADAMTSL2, ALX1, SNX10, SERPINH1, ANKH, XYLT1, SALL4, HES7, TP63, PCNT, RAB33B, IFITM5, SRCAP, ACVR1, ADAMTS17, ORC6, CHSY1, SP7, CDC6, CDH3, AFF4, B3GALT6, TRPV4, FKBP10, ASXL1, WDR19, PROK2, FKBP14, RIN2, DOCK6, P3H1, SBDS, CHST3, CANT1, EVC2, GREM1, POLR1C, CLCN7, SLC34A3, SMOC1, TGDS, SULF1, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, LHX4, ADAMTS2, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, COL27A1, TRAPPC2, FERMT3, ZNF469, FREM1, CREBBP, CRTAP, BMPER, CHST14, TCTN3, CDT1, SMC3, FAM111A, CTSK, DDX59, CCDC8, TMEM38B, TTC21B, GORAB, IMPAD1, PIGV, CYP27B1, PIEZO2, CEP120, AMER1, ESCO2, DDR2, ANO5, CCNQ, EOGT, DHCR24, DHODH, NIPBL, LEMD3, IFT140, DLL3, OBSL1, ARHGAP31, WDR35, IFT80, DMP1, DYNC2H1, MESP2, TXNL4A, EFTUD2, EBP, ACAN, EFNB1, MEGF8, EIF2AK3, AGPS, ENPP1, EP300, ERF, EVC, EXT1, BHLHA9, EXT2, FBLN1, FBN1, FBN2, FGD1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FMN1, GALNT3, GDF3, GDF5, GDF6, GHSR, GLI3, ALPL, GPC3, GPC6, ALX3, ALX4, RIPK4, HOXA11, HOXA13, HOXD13, HPGD, HSPG2, RBPJ, IHH, INPPL1, IRF6, KIF22, LBR, COG1, LFNG, LIFR, LMX1B, LRP4, LRP5, MATN3, MEOX1, MGP, MMP13, MMP2, MMP9, ARSE, MSX2, MYCN, NEK1, NFIX, NOG, NPPC, NPR2, ORC1, ORC4, PAPSS2, PCYT1A, PDE4D, SERPINF1, PEX7, PHEX, PITX1, PLOD1, PLOD2, PLS3, PPIB, B4GALT7, PRKAR1A, NKX3-2, PTDSS1, PTHLH, PTH1R, RAD21, RASGRP2, RECQL4 Specificity 1 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...) View the complete list with 33 more genes Panel complete gene list RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COMP, TRAPPC2, IMPAD1, DDR2, RSPRY1, PAM16, ACAN, EIF2AK3, RNU4ATAC, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NPR2, PAPSS2, PCYT1A, B3GAT3, LONP1, NKX3-2, PTH1R Specificity 2 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel. By Connective Tissue Gene Tests (United States). RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...) View the complete list with 33 more genes Panel complete gene list RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COMP, TRAPPC2, IMPAD1, DDR2, RSPRY1, PAM16, ACAN, EIF2AK3, RNU4ATAC, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NPR2, PAPSS2, PCYT1A, B3GAT3, LONP1, NKX3-2, PTH1R Specificity 2 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel. By Connective Tissue Gene Tests (United States). RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...) View the complete list with 33 more genes Panel complete gene list RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COMP, TRAPPC2, IMPAD1, DDR2, RSPRY1, PAM16, ACAN, EIF2AK3, RNU4ATAC, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NPR2, PAPSS2, PCYT1A, B3GAT3, LONP1, NKX3-2, PTH1R Specificity 2 % Genes 100 %
Disproportionate Short Stature: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States). ROR2, RUNX2, BMPR1B, SHOX, SLC26A2, SMARCAL1, SOX9, TBCE, TBX6, TRIP11, TRPS1, ACP5, WNT5A, IFT122, ANKH, HES7, PCNT, CDKN1C, B3GALT6, TRPV4 , (...) View the complete list with 63 more genes Panel complete gene list ROR2, RUNX2, BMPR1B, SHOX, SLC26A2, SMARCAL1, SOX9, TBCE, TBX6, TRIP11, TRPS1, ACP5, WNT5A, IFT122, ANKH, HES7, PCNT, CDKN1C, B3GALT6, TRPV4, CHST3, CANT1, EVC2, SULF1, SLC35D1, SLC39A13, CUL7, ICK, DYM, COL10A1, COL11A1, COL11A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, CHST14, TCTN3, CTSK, DDR2, ANO5, DHCR24, IFT140, DLL3, OBSL1, SH3PXD2B, WDR35, IFT80, DYNC2H1, MESP2, EBP, ACAN, EIF2AK3, AGPS, EVC, EXT1, EXT2, FBN1, FGFR1, FGFR2, FGFR3, FLNA, FLNB, GDF5, GLI3, GPC6, HSPG2, IHH, KIF22, LFNG, LIFR, MATN3, MMP13, MMP9, ARSE, NEK1, NPR2, PAPSS2, PRKAR1A, NKX3-2, PTH1R, PTPN11 Specificity 2 % Genes 100 %
ACAN. By Fulgent Genetics Fulgent Genetics (United States). ACAN Specificity 100 % Genes 100 %
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel. By Blueprint Genetics (Finland). RMRP, BGN, SMARCAL1, ACP5, CCN6, RAB33B, B3GALT6, TRPV4, CHST3, CANT1, SLC39A13, DYM, COL11A1, COL11A2, TRAPPC2, DDR2, ACAN, EIF2AK3, HSPG2, INPPL1 , (...) View the complete list with 7 more genes Panel complete gene list RMRP, BGN, SMARCAL1, ACP5, CCN6, RAB33B, B3GALT6, TRPV4, CHST3, CANT1, SLC39A13, DYM, COL11A1, COL11A2, TRAPPC2, DDR2, ACAN, EIF2AK3, HSPG2, INPPL1, KIF22, MATN3, MMP13, PAPSS2, PCYT1A, LONP1, NKX3-2 Specificity 4 % Genes 100 %
Skeletal Dysplasias Core Panel. By Blueprint Genetics (Finland). RMRP, ROR2, RUNX2, BMP1, BMPR1B, SHOX, SLC26A2, SMARCAL1, SOX9, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TRIP11, ACP5, VDR, CCN6, WNT5A, ADAMTS10, CA2 , (...) View the complete list with 89 more genes Panel complete gene list RMRP, ROR2, RUNX2, BMP1, BMPR1B, SHOX, SLC26A2, SMARCAL1, SOX9, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TRIP11, ACP5, VDR, CCN6, WNT5A, ADAMTS10, CA2, ADAMTSL2, SERPINH1, ANKH, XYLT1, PCNT, ORC6, CDC6, KAT6B, CDKN1C, B3GALT6, TRPV4, FKBP10, WDR19, P3H1, SBDS, CHST3, CANT1, EVC2, CLCN7, SLC34A3, SLC39A13, CUL7, DYM, COL10A1, COL11A1, COL11A2, COL1A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, TRAPPC2, CRTAP, CDT1, CTSK, TTC21B, CYP27B1, CSPP1, ESCO2, DHCR24, IFT140, DLL3, OBSL1, WDR35, IFT80, DYNC2H1, IFT172, DVL1, EBP, ACAN, EIF2AK3, AGPS, ENPP1, RNU4ATAC, EVC, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, GDF5, ALPL, GNPAT, HSPG2, IHH, INPPL1, LBR, LIFR, LMX1B, LRP5, LTBP2, SMAD4, MATN3, MMP9, ARSE, NEK1, NPR2, ORC1, ORC4, PAPSS2, SERPINF1, PEX7, PHEX, PLOD2, PLS3, PPIB, PTH1R Specificity 1 % Genes 100 %