Xanthinuria, type I

Preferred Label : Xanthinuria, type I;

Symbol : XAN1;

CISMeF acronym : XAN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Xanthine dehydrogenase deficiency; Xanthine oxidase deficiency; Xdh deficiency;

Description : 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 clinically similar but distinct forms of xanthinuria are recognized. In type I there is an isolated deficiency of xanthine dehydrogenase, and in type II there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase (603592). Type I patients can metabolize allopurinol, whereas type II patients cannot (Simmonds et al., 1995). Xanthinuria also occurs in molybdenum cofactor deficiency (252150).;

Inheritance : Autosomal recessive;

Prefixed ID : #278300;

Details

Origin ID

278300;

UMLS CUI

C0268118;

Broader ORDO disease(s)
- Hereditary xanthinuria [ORDO Disease]
CISMeF manual mappings
- Isolated xanthine oxidase deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Deficiency of xanthine oxidase (disorder) [SNOMED CT concept]
- Hereditary xanthinuria type 1 (disorder) [SNOMED CT concept]
- Reduced xanthine dehydrogenase level [HPO term]
- Xanthinuria type 1 [ICD-11 More detail]
- Xanthinuria type I [ORDO Disease]
- isolated xanthine oxidase deficiency [SNOMED Notion]
- xanthinuria [DO Concept]
- xanthinuria, type I [MeSH concept]
- xanthinuria, type I [MeSH Supplementary Concept]
DO Cross reference
- xanthinuria [DO Concept]
Genes related to phenotype
- Xanthine dehydrogenase [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hydronephrosis [HPO term]
- Hyperxanthinemia [HPO term]
- Myopathy [HPO term]
- Pyelonephritis [HPO term]
- Reduced xanthine dehydrogenase level [HPO term]
- Xanthine nephrolithiasis [HPO term]
- Xanthinuria [HPO term]
ORDO concept(s)
- Hereditary xanthinuria [ORDO Disease]
- Xanthinuria type I [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of xanthine oxidase (disorder) [SNOMED CT concept]
- Hereditary xanthinuria type 1 (disorder) [SNOMED CT concept]
- Isolated xanthine oxidase deficiency (disorder) [SNOMED CT concept]
- Xanthinuria type 1 [ICD-11 More detail]
- Xanthinuria type I [ORDO Disease]
- isolated xanthine oxidase deficiency [SNOMED Notion]
- xanthinuria, type I [MeSH Supplementary Concept]
- xanthinuria, type I [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary xanthinuria [ORDO Disease]
- Hereditary xanthinuria (disorder) [SNOMED CT concept]
- Xanthinuria [ICD-11 Sub-sub category]
- Xanthinuria [PASCAL descriptor]
- Xanthinuria [HPO term]
- Xanthinuria (disorder) [SNOMED CT concept]
- hereditary xanthinuria, nos [SNOMED Notion]
- xanthinuria [CISMeF Querying Strategy]

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