MOCOS gene related symptoms and diseases
All the information presented here about the MOCOS 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 MOCOS gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Renal insufficiency | Very Common - Between 80% and 100% cases |
| Stage 5 chronic kidney disease | Very Common - Between 80% and 100% cases |
| Recurrent urinary tract infections | Very Common - Between 80% and 100% cases |
| Nephrolithiasis | Very Common - Between 80% and 100% cases |
| Polycystic kidney dysplasia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MOCOS gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Acute kidney injury
- Myositis
- Hypouricemia
- Xanthinuria
Rare diseases associated to MOCOS gene
Here you will find a list of rare diseases related to the MOCOS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
XANTHINURIA TYPE II
Alternate names
XANTHINURIA TYPE II Is also known as xanthine dehydrogenase and aldehyde oxidase, combined deficiency of, xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency, xdh and aox dual deficiency
Description
Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.
Most common symptoms of XANTHINURIA TYPE II
- Renal insufficiency
- Stage 5 chronic kidney disease
- Recurrent urinary tract infections
- Nephrolithiasis
- Polycystic kidney dysplasia
More info about XANTHINURIA TYPE II
Search interest in MOCOS
Potential gene panels for MOCOS gene
Xanthinuria Type II via MOCOS Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the MOCOS gene.
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.
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.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
MOCOS Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MOCOS gene.
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 2 , Sequencing MOCOS Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the MOCOS gene.
More info about this panel Spain.
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