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

Table of contents:

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

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.

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

GGCX

View recommended genes panels

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.

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

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.

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 Panel complete gene list RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3, ANO6, ADRA2A, DHCR24, ANKRD26, MLPH, DPAGT1, NBEAL2, F8, FGA, FGB, FGG, FLNA, GATA1, GFI1B, GGCX, GNAQ, GNAS, GP1BA, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, KLKB1, A2M, MPL, MYH9, MYO5A, P2RX1, BLOC1S6, PLA2G7, PLAU, RAB27A 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 Panel complete gene list SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14, GORAB, AEBP1, EFEMP2, ELN, FBLN5, FLNA, FLNB, GGCX, SMAD3, ATP6V1A, ATP6V1E1, ATP6AP1, ATP7A, PLOD1, PLP1, B3GAT3, B4GALT7, PRDM5, PYCR1, ALDH18A1 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 Panel complete gene list RUNX1, TBXA2R, TBXAS1, VWF, WAS, ADAMTS13, ABCG5, ABCG8, GP6, HPS3, HPS4, TUBB1, ACTN1, CD36, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL, CYCS, BLOC1S3, VKORC1, ANO6, ANKRD26, NBEAL2, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, FLI1, FLNA, GATA1, GFI1B, GGCX, GP1BA, GP1BB, GP9, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, LMAN1, MPL, MYH9, P2RX1, SERPINE1, PLAU, SERPINF2, PRKACG 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 %

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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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