Body Skin Hyperlaxity Due To Vitamin K-dependent 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 Body Skin Hyperlaxity Due To Vitamin K-dependent Coagulation Factor Deficiency

  • Dilatation
  • Papule
  • Abnormal bleeding
  • Epistaxis
  • Atherosclerosis
  • Cutis laxa
  • Redundant skin
  • Abnormality of coagulation
  • Dilatation of the cerebral artery
  • Gingival bleeding

And another 8 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.

Alternative names

Body Skin Hyperlaxity Due To Vitamin K-dependent Coagulation Factor Deficiency Is also known as pseudoxanthoma elasticum-like syndrome, pxe-like syndrome, pxe-like disorder with multiple coagulation factor deficiency.

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.


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Body Skin Hyperlaxity Due To Vitamin K-dependent 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 (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 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 (United States).

GGCX
Specificity
100 %
Genes
100 %
GGCX mutation analysis.

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

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

By CGC Genetics (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 (Germany).

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

By PreventionGenetics PreventionGenetics (United States).

SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RUNX1, TBXA2R, TBXAS1, VWF, WAS, ADAMTS13, ABCG5, ABCG8, GP6, HPS3, HPS4, TUBB1, ACTN1, CD36, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL , (...)

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

By PreventionGenetics PreventionGenetics (United States).

VWF, MCFD2, VKORC1, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, GGCX, LMAN1, SERPINE1, SERPINF2
Specificity
5 %
Genes
100 %

We have 14 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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