Xanthinuria type I

General Information (adopted from Orphanet):

Synonyms, Signs: xdh deficiency
Xanthine oxidoreductase deficiency
xanthine oxidase deficiency
XOR deficiency
XO deficiency
xanthine dehydrogenase deficiency
Number of Symptoms 8
OrphanetNr: 93601
OMIM Id: 278300
ICD-10: E79.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Hereditary xanthinuria
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000804) Xanthine nephrolithiasis 4 / 7739
2
 (HPO:0012330) Pyelonephritis 7 / 7739
3
 (HPO:0000126) Hydronephrosis 119 / 7739
4
 (HPO:0010934) Xanthinuria 4 / 7739
5
 (HPO:0003198) Myopathy 151 / 7739
6
 (OMIM) Crystalline deposits in skeletal muscle 1 / 7739
7
 (OMIM) Low serum and urine uric acid 1 / 7739
8
 (OMIM) Isolated deficiency of xanthine dehydrogenase 1 / 7739

Associated genes:

XDH;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Xanthinuria, which was first described by Dent and Philpot (1954), is characterized by excretion of large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. Two ...
Clinical Description OMIM Dickinson and Smellie (1959) described a well-studied single case, a child of unrelated, unaffected parents. Watts et al. (1964) described a 23-year-old woman in whom the disorder was suspected because of very low serum uric acid. There were no ...
Molecular genetics OMIM Ichida et al. (1997) studied 4 individuals with classic xanthinuria to discover the molecular cause of the enzyme deficiency. One subject had a C-to-T transition at nucleotide 682 of the XHD gene that caused an arg228-to-ter nonsense substitution (607633.0001). ...