LOXL2 gene related symptoms and diseases
All the information presented here about the LOXL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LOXL2 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Leukoencephalopathy | Very Common - Between 80% and 100% cases |
Pathologic fracture | Very Common - Between 80% and 100% cases |
Global brain atrophy | Very Common - Between 80% and 100% cases |
Oral-pharyngeal dysphagia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with LOXL2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Personality changes
- Abnormality of mitochondrial metabolism
- Hypercalciuria
- Back pain
- Abnormality of the hand
- Schizophrenia
- Drooling
- Leukopenia
And 94 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LOXL2 gene
Here you will find a list of rare diseases related to the LOXL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
Search interest in LOXL2
Potential gene panels for LOXL2 gene
LOXL2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LOXL2 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NR1I2 FAM69A SERPINA6 FHL2 LARGE1 LYRM4 ACP2