LOX gene related symptoms and diseases
All the information presented here about the LOX gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LOX gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Abdominal aortic aneurysm | Uncommon - Between 30% and 50% cases |
| Coronary artery atherosclerosis | Uncommon - Between 30% and 50% cases |
| Thoracic aortic aneurysm | Uncommon - Between 30% and 50% cases |
| Scoliosis | Uncommon - Between 30% and 50% cases |
| Dilatation | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with LOX gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Dural ectasia
- Abnormality of the sternum
- Aortic root aneurysm
- Bruising susceptibility
- Aortic aneurysm
- Bicuspid aortic valve
- Joint hypermobility
Rarely - Less than 30% cases
- Inguinal hernia
And 158 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LOX gene
Here you will find a list of rare diseases related to the LOX. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ORAL SUBMUCOUS FIBROSIS
Alternate names
ORAL SUBMUCOUS FIBROSIS Is also known as osmf
Description
Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.
Most common symptoms of ORAL SUBMUCOUS FIBROSIS
- Flexion contracture
- Narrow mouth
- Trismus
- Cheilitis
- Abnormality of the pharynx
More info about ORAL SUBMUCOUS FIBROSIS
WILSON DISEASE
Alternate names
WILSON DISEASE Is also known as wd, hepatolenticular degeneration, wnd
Description
Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
Most common symptoms of WILSON DISEASE
- Intellectual disability
- Growth delay
- Neoplasm
- Failure to thrive
- Spasticity
More info about WILSON DISEASE
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION
Alternate names
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad
Description
Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.
Most common symptoms of FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION
- Scoliosis
- Hypertelorism
- Hypertension
- Dilatation
- Patent ductus arteriosus
More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION
SOURCES: ORPHANET
AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10
Alternate names
AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10 Is also known as aortic aneurysm, thoracic, with or without aortic dissection
Most common symptoms of AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10
- Scoliosis
- High palate
- Myopia
- Dilatation
- Hernia
More info about AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10
SOURCES: OMIM
Search interest in LOX
Potential gene panels for LOX gene
Familial Aneurysm Panel Panel
United States.
By Collagen Diagnostic Laboratory University of Washington Familial Aneurysm Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1
More info about this panel United States.
LOX Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the LOX gene.
More info about this panel Germany.
Connective Tissue Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panel United States.
Connective Tissue Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq Analysis that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL1A2
More info about this panel United States.
Connective Tissue Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq + Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panel United States.
Connective Tissue Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panel United States.
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection that also includes the following genes: SKI SMS TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 COL3A1 MFAP5 FBN1 FOXE3 LOX
More info about this panel United States.
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Connective tissue disorder Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Connective tissue disorder Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Connective tissue disorder NGS panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Familial thoracic aortic aneurysm panel Panel
Germany.
By Centogene AG - the Rare Disease Company Familial thoracic aortic aneurysm panel that also includes the following genes: BGN ACTA2 CBS MFAP5 LOX MAT2A MYH11 MYLK
More info about this panel Germany.
LOX Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LOX gene.
More info about this panel United States.
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