XYLT2 gene related symptoms and diseases
All the information presented here about the XYLT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to XYLT2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hyperextensible skin | Very Common - Between 80% and 100% cases |
| Mitral valve prolapse | Very Common - Between 80% and 100% cases |
| Visual impairment | Very Common - Between 80% and 100% cases |
| Myopia | Very Common - Between 80% and 100% cases |
| Joint hyperflexibility | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with XYLT2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Visual loss
Not very common - Between 30% and 50% cases
- Hearing impairment
- Hypertelorism
- Nystagmus
- Sensorineural hearing impairment
- Muscle weakness
- Abnormal facial shape
- Cataract
And 148 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to XYLT2 gene
Here you will find a list of rare diseases related to the XYLT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PSEUDOXANTHOMA ELASTICUM
Alternate names
PSEUDOXANTHOMA ELASTICUM Is also known as pxe, gronblad-strandberg-touraine syndrome, gronblad-strandberg syndrome
Description
Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.
Most common symptoms of PSEUDOXANTHOMA ELASTICUM
- Scoliosis
- Growth delay
- High palate
- Visual impairment
- Hypertension
More info about PSEUDOXANTHOMA ELASTICUM
SPONDYLO-OCULAR SYNDROME
Description
Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.
Most common symptoms of SPONDYLO-OCULAR SYNDROME
- Intellectual disability
- Short stature
- Generalized hypotonia
- Hearing impairment
- Hypertelorism
More info about SPONDYLO-OCULAR SYNDROME
Search interest in XYLT2
Potential gene panels for XYLT2 gene
Osteogenesis Imperfecta and Genetic Bone Disorders Panel Panel
United States.
By Collagen Diagnostic Laboratory University of Washington Osteogenesis Imperfecta and Genetic Bone Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC TNFRSF11B WNT1 MBTPS2 SERPINH1 XYLT2 NBAS IFITM5
More info about this panel United States.
Spondyloocular syndrome Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the XYLT2 gene.
More info about this panel United States.
Spondylo-ocular syndrome (sequence analysis of XYLT2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the XYLT2 gene.
More info about this panel Portugal.
Spondylo-ocular syndrome (sequence analysis of XYLT2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the XYLT2 gene.
More info about this panel Portugal.
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS
More info about this panel United States.
Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS
More info about this panel United States.
OI panel 2 Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital OI panel 2 that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 XYLT2 SP7 B3GALT6 FKBP10
More info about this panel Belgium.
XYLT2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the XYLT2 gene.
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.
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