DCXR gene related symptoms and diseases
All the information presented here about the DCXR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DCXR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Abnormality of urine homeostasis | Very Common - Between 80% and 100% cases |
Rare diseases associated to DCXR gene
Here you will find a list of rare diseases related to the DCXR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PENTOSURIA
Alternate names
PENTOSURIA Is also known as xylitol dehydrogenase deficiency, l-xylulosuria, l-xylulose reductase deficiency, essential pentosuria
Description
Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.
Most common symptoms of PENTOSURIA
- Abnormality of urine homeostasis
More info about PENTOSURIA
Search interest in DCXR
Potential gene panels for DCXR gene
Pentosuria (sequence analysis of DCXR gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DCXR gene.
More info about this panel Portugal.
Pentosuria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DCXR gene.
More info about this panel Germany.
DCXR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DCXR gene.
More info about this panel United States.
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