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.
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
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
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
Search interest in GGCX
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 United States.
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 United States.
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 Netherlands.
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 Portugal.
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 Germany.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
GGCX Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the GGCX gene.
More info about this panel Germany.
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 Belgium.
GGCX mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the GGCX gene.
More info about this panel Belgium.
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 United States.
GGCX Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GGCX gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 United States.
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 Spain.
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 United States.
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