XDH gene related symptoms and diseases
All the information presented here about the XDH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to XDH gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Myopathy | Very Common - Between 80% and 100% cases |
| Abnormality of metabolism/homeostasis | Very Common - Between 80% and 100% cases |
| Hydronephrosis | Very Common - Between 80% and 100% cases |
| Nephrolithiasis | Very Common - Between 80% and 100% cases |
| Pyelonephritis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with XDH gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypouricemia
- Molybdenum cofactor deficiency
- Xanthinuria
- Xanthine nephrolithiasis
- Reduced xanthine dehydrogenase activity
Rare diseases associated to XDH gene
Here you will find a list of rare diseases related to the XDH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
XANTHINURIA TYPE I
Alternate names
XANTHINURIA TYPE I Is also known as xor deficiency, xdh deficiency, xanthine oxidase deficiency, xanthine oxidoreductase deficiency, xanthine dehydrogenase deficiency, xo deficiency
Description
Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.
Most common symptoms of XANTHINURIA TYPE I
- Myopathy
- Abnormality of metabolism/homeostasis
- Hydronephrosis
- Nephrolithiasis
- Pyelonephritis
More info about XANTHINURIA TYPE I
Search interest in XDH
Potential gene panels for XDH gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
XDH. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the XDH gene.
More info about this panel Spain.
Xanthinuria type I (sequence analysis of XDH gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the XDH gene.
More info about this panel Portugal.
Xanthinuria Type I via XDH Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the XDH gene.
More info about this panel United States.
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panel United States.
Nephrolithiasis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders NGS panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Nephrolithiasis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Nephrolithiasis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Xanthinuria, Type I Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the XDH gene.
More info about this panel Germany.
Xanthinuria type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the XDH gene.
More info about this panel Germany.
Invitae Purine Metabolism Disorders Panel Panel
United States.
By Invitae Invitae Purine Metabolism Disorders Panel that also includes the following genes: XDH GPHN MOCOS ADA ADSL AMPD1 HPRT1 MOCS1 PNP
More info about this panel United States.
XDH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the XDH gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Nephrolithiasis Panel Panel
Finland.
By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panel Finland.
Purine and Pyrimidine Metabolism Disorders Panel Panel
Finland.
By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH
More info about this panel Finland.
Xanthinuria, type I Panel
Spain.
By Bioarray
This panel specifically test the XDH gene.
More info about this panel Spain.
Xanthine Dehydrogenase Deficiency , Sequencing XDH Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the XDH gene.
More info about this panel Spain.
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