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
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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

SOURCES: OMIM ORPHANET MESH


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

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

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

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

MOCOS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MOCOS gene.

More info about this panel

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

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

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

Xanthinuria type 2 , Sequencing MOCOS Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MOCOS gene.

More info about this panel


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