Meester-loeys Syndrome; Mrls

Table of contents:

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

Genes related to Meester-loeys Syndrome; Mrls

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Meester-loeys Syndrome; Mrls

Hypertelorism
Abnormal facial shape
Flexion contracture
Macrocephaly
Downslanted palpebral fissures
Frontal bossing
Ventriculomegaly
Malar flattening
Dilatation
Proptosis

And another 20 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.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Meester-loeys Syndrome; Mrls Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Familial Aneurysm Panel. By Collagen Diagnostic Laboratory University of Washington (United States). BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11 , (...) View the complete list with 3 more genes Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11, MYLK, PLOD3, PRKG1 Specificity 5 % Genes 100 %
BGN. By Institute for Human Genetics University Clinic Freiburg (Germany). BGN Specificity 100 % Genes 100 %
Connective Tissue Disorders Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States). BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...) View the complete list with 45 more genes Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2, SLC39A13, DSE, ADAMTS2, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ZNF469, CHST14, GORAB, FLCN, MFAP5, EFEMP2, ELN, FBLN5, FBN1, FBN2, FLNA, FOXE3, ABCC6, LOX, LTBP4, SMAD2, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, NOTCH2, ATP7A, PKD1, PKD2, PLOD1, B4GALT7, PRDM5, PRKG1, PTDSS1, PYCR1, ALDH18A1 Specificity 2 % Genes 100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, MFAP5, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD2 , (...) View the complete list with 7 more genes Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, MFAP5, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11, MYLK, NOTCH1, PRKG1 Specificity 4 % Genes 100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, MFAP5, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD2 , (...) View the complete list with 7 more genes Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, MFAP5, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11, MYLK, NOTCH1, PRKG1 Specificity 4 % Genes 100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel. By Connective Tissue Gene Tests (United States). BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, MFAP5, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD2 , (...) View the complete list with 7 more genes Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, MFAP5, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11, MYLK, NOTCH1, PRKG1 Specificity 4 % 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 %

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Sources and references

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