GGCX gene related symptoms and diseases

All the information presented here about the GGCX gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GGCX gene

Symptoms // Phenotype % Cases
Abnormal bleeding Common - Between 50% and 80% cases
Epistaxis Common - Between 50% and 80% cases
Papule Common - Between 50% and 80% cases
Cutis laxa Common - Between 50% and 80% cases
Redundant skin Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with GGCX gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Dilatation
  • Joint hemorrhage
  • Cerebral hemorrhage
  • Celiac disease
  • Cystic hygroma
  • Epiphyseal stippling
  • Pulmonary artery stenosis
  • Ecchymosis

And 39 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GGCX gene

Here you will find a list of rare diseases related to the GGCX. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BODY SKIN HYPERLAXITY DUE TO VITAMIN K-DEPENDENT COAGULATION FACTOR DEFICIENCY


Alternate 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

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.

Most common symptoms of BODY SKIN HYPERLAXITY DUE TO VITAMIN K-DEPENDENT COAGULATION FACTOR DEFICIENCY

  • Dilatation
  • Papule
  • Abnormal bleeding
  • Epistaxis
  • Atherosclerosis


More info about BODY SKIN HYPERLAXITY DUE TO VITAMIN K-DEPENDENT COAGULATION FACTOR DEFICIENCY

SOURCES: MESH ORPHANET OMIM

HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS


Alternate names

HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS Is also known as glutamic acid, deficient gamma-carboxylation of, familial multiple coagulation factor deficiency iii, vitamin k-dependent coagulation defect, fmfd iii, hereditary combined deficiency of factors ii, vii, ix and x, multiple coagulation factor deficiency iii, mcfd

Description

Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.

Most common symptoms of HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS

  • Cataract
  • Hydrocephalus
  • Short nose
  • Congenital cataract
  • Malabsorption


More info about HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS

SOURCES: ORPHANET MESH OMIM

PSEUDOXANTHOMA ELASTICUM-LIKE SKIN MANIFESTATIONS WITH RETINITIS PIGMENTOSA


Alternate names

PSEUDOXANTHOMA ELASTICUM-LIKE SKIN MANIFESTATIONS WITH RETINITIS PIGMENTOSA Is also known as pxe-like syndrome with retinitis pigmentosa

Most common symptoms of PSEUDOXANTHOMA ELASTICUM-LIKE SKIN MANIFESTATIONS WITH RETINITIS PIGMENTOSA

  • Strabismus
  • Rod-cone dystrophy
  • Nyctalopia
  • Papule
  • Cutis laxa


More info about PSEUDOXANTHOMA ELASTICUM-LIKE SKIN MANIFESTATIONS WITH RETINITIS PIGMENTOSA

SOURCES: ORPHANET


Potential gene panels for GGCX gene

Platelet Disorders Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3

More info about this panel

GGCX Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the GGCX gene.

More info about this panel

GGCX mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the GGCX gene.

More info about this panel

Hereditary combined deficiency of vitamin K-dependent clotting factors (sequence analysis of GGCX gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GGCX gene.

More info about this panel

Vitamin k-dependent clotting factors, combined deficiency of, 1 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the GGCX gene.

More info about this panel

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6

More info about this panel

Bleeding Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3

More info about this panel

Coagulation Factor Deficiency Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Coagulation Factor Deficiency Sequencing Panel with CNV Detection that also includes the following genes: VWF MCFD2 VKORC1 F10 F11 F12 F13A1 F13B F2 F5

More info about this panel

Pseudoxanthoma elasticum Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Pseudoxanthoma elasticum Deletion / Duplication panel that also includes the following genes: GGCX ABCC6

More info about this panel

Pseudoxanthoma elasticum Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Pseudoxanthoma elasticum Comprehensive panel that also includes the following genes: GGCX ABCC6

More info about this panel

Pseudoxanthoma elasticum NGS panel Panel

United States.

By Connective Tissue Gene Tests Pseudoxanthoma elasticum NGS panel that also includes the following genes: GGCX ABCC6

More info about this panel

GGCX Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the GGCX gene.

More info about this panel

Pseudoxanthoma Elasticum (PXE) gene panel Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital Pseudoxanthoma Elasticum (PXE) gene panel that also includes the following genes: ENPP1 GGCX ABCC6

More info about this panel

GGCX mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the GGCX gene.

More info about this panel

aCGH Deletion/Duplication Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB

More info about this panel

GGCX Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GGCX gene.

More info about this panel

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3

More info about this panel

Coagulation Factor Deficiency Panel Panel

Finland.

By Blueprint Genetics Coagulation Factor Deficiency Panel that also includes the following genes: VWF VKORC1 F10 F11 F12 F13A1 F2 F5 F7 F8

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Warfarin Panel Panel

United States.

By Castle Medical Molecular Diagnostics Castle Medical, LLC Warfarin Panel that also includes the following genes: CACNA1C VKORC1 CYP2C9 CYP4F2 GGCX

More info about this panel

Pseudoxanthoma Elasticum , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Pseudoxanthoma Elasticum , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: VEGFA XYLT1 XYLT2 ENPP1 GGCX ABCC6

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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