Pseudoxanthoma Elasticum, Forme Fruste

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 Pseudoxanthoma Elasticum, Forme Fruste

ABCC6

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Pseudoxanthoma Elasticum, Forme Fruste

Scoliosis
High palate
Visual impairment
Hypertension
Myopia
Kyphosis
Visual loss
Reduced visual acuity
Skin rash
High, narrow palate

And another 17 symptoms. If you need more information about this disease we can help you.

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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.

Pseudoxanthoma Elasticum, Forme Fruste Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Connective Tissue Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...) View the complete list with 13 more genes Panel complete gene list SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14, ELN, FBLN5, FBN1, FBN2, ABCC6, SMAD3, MYH11, MYLK, NOTCH1, ATP7A, PKD2, PLOD1, PRDM5 Specificity 4 % Genes 100 %
ABCC6 Gene Sequencing. By GeneDx (United States). ABCC6 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 %
Pseudoxanthoma Elasticum. By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom). ABCC6 Specificity 100 % Genes 100 %
ABCC6 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). ABCC6 Specificity 100 % Genes 100 %
ABCC6. Sequencing of the exons 21,27, 29 and 30. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ABCC6 Specificity 100 % Genes 100 %
ABCC6. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ABCC6 Specificity 100 % Genes 100 %
ABCC6. Detection of the deletion exon 23-29. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ABCC6 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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