Pseudoxanthoma Elasticum-like Disorder With Multiple Coagulation Factor Deficiency

Description

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.

Clinical Features

Top most frequent phenotypes and symptoms related to Pseudoxanthoma Elasticum-like Disorder With Multiple Coagulation Factor Deficiency

  • Pica
  • Nevus
  • Vomiting
  • Dilatation
  • Depressivity
  • Papule
  • Abnormal bleeding
  • Epistaxis
  • Cutis laxa
  • Atherosclerosis
And another 13 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Pseudoxanthoma Elasticum-like Disorder With Multiple Coagulation Factor Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
GGCX Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GGCX
Specificity
100 %
Genes
100 %
GGCX mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

GGCX
Specificity
100 %
Genes
100 %
Hereditary combined deficiency of vitamin K-dependent clotting factors (sequence analysis of GGCX gene).

By CGC Genetics in Portugal.

GGCX
Specificity
100 %
Genes
100 %
Vitamin k-dependent clotting factors, combined deficiency of, 1.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GGCX
Specificity
100 %
Genes
100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, SERPINE1, VKORC1, F7, F10, F12, F13A1, F13B, MCFD2, SERPINF2, LMAN1
Specificity
5 %
Genes
100 %
Pseudoxanthoma elasticum Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ABCC6, GGCX
Specificity
50 %
Genes
100 %
Pseudoxanthoma elasticum Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ABCC6, GGCX
Specificity
50 %
Genes
100 %
Pseudoxanthoma elasticum NGS panel.

By Connective Tissue Gene Tests in United States.

ABCC6, GGCX
Specificity
50 %
Genes
100 %
GGCX.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

GGCX
Specificity
100 %
Genes
100 %
Pseudoxanthoma Elasticum (PXE) gene panel.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

ABCC6, GGCX, ENPP1
Specificity
34 %
Genes
100 %
GGCX mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

GGCX
Specificity
100 %
Genes
100 %
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
GGCX.

By Fulgent Genetics Fulgent Genetics in United States.

GGCX
Specificity
100 %
Genes
100 %
Bleeding Disorder/Coagulopathy Panel.

By Blueprint Genetics in Finland.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Coagulation Factor Deficiency Panel.

By Blueprint Genetics in Finland.

F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, VKORC1, F7, F10, F12, F13A1, LMAN1
Specificity
7 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Warfarin Panel.

By Castle Medical Molecular Diagnostics Castle Medical, LLC in United States.

CACNA1C, GGCX, VKORC1, CYP2C9, CYP4F2
Specificity
20 %
Genes
100 %
Pseudoxanthoma Elasticum , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

ABCC6, XYLT2, VEGFA, GGCX, ENPP1, XYLT1
Specificity
17 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Pseudoxanthoma Elasticum-like Disorder With Multiple Coagulation Factor Deficiency Is also known as pxe-like disorder with multiple coagulation factor deficiency;pxe-like syndrome; pseudoxanthoma elasticum-like syndrome.


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