Xanthinuria, Type Ii; Xan2

Description

Xanthinuria type II is an autosomal recessive inborn error of metabolism resulting from a defect in the synthesis of the molybdenum cofactor, which is necessary for the 2 enzymes that degrade xanthine: XDH (OMIM ) and AOX1 (OMIM ). Most individuals with type II xanthinuria are asymptomatic, but some develop urinary tract calculi, acute renal failure, or myositis due to tissue deposition of xanthine. Laboratory studies show increased serum and urinary hypoxanthine and xanthine and decreased serum and urinary uric acid (summary by Ichida et al., 2001).Two clinically similar but distinct forms of xanthinuria are recognized. In type I xanthinuria (XAN1 ), there is an isolated deficiency of xanthine dehydrogenase resulting from mutation in the XDH gene; in type II, there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase. Type I patients can metabolize allopurinol, whereas type II patients cannot (Simmonds et al., 1995).

Clinical Features

Phenotypes and symptoms related to Xanthinuria, Type Ii; Xan2

  • Renal insufficiency
  • Renal cyst
  • Stage 5 chronic kidney disease
  • Nephrolithiasis
  • Recurrent urinary tract infections
  • Polycystic kidney dysplasia
  • Hypouricemia
  • Xanthinuria

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Xanthinuria, Type Ii; Xan2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Xanthinuria Type II via MOCOS Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MOCOS
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Invitae Purine Metabolism Disorders Panel.

By Invitae in United States.

ADSL, HPRT1, XDH, MOCS1, ADA, PNP, AMPD1, GPHN, MOCOS
Specificity
12 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
MOCOS.

By Fulgent Genetics Fulgent Genetics in United States.

MOCOS
Specificity
100 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Purine and Pyrimidine Metabolism Disorders Panel.

By Blueprint Genetics in Finland.

ADSL, HPRT1, DHODH, ATIC, XDH, NT5C3A, MOCS1, ADA, APRT, PNP, DPYD, UMOD, PRPS1, AMPD1, TPMT, REN, UMPS, GPHN, UPB1, DPYS , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Xanthinuria type 2 , Sequencing MOCOS Gene.

By Reference Laboratory Genetics in Spain.

MOCOS
Specificity
100 %
Genes
100 %

Alternate names

Xanthinuria, Type Ii; Xan2 Is also known as xanthine dehydrogenase and aldehyde oxidase, combined deficiency of;xdh and aox dual deficiency; xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency.



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