Xanthinuria, type II

Preferred Label : Xanthinuria, type II;

Symbol : XAN2;

CISMeF acronym : XAN2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Xanthine dehydrogenase and aldehyde oxidase, combined deficiency of;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the molybdenum cofactor sulfurase gene (MOCOS, 613274.0001);

Laboratory abnormalities : Increased serum and urinary hypoxanthine; Hypouricemia; Decreased activities of xanthine dehydrogenase and xanthine oxidase; Decreased or absent urinary uric acid; Increased serum and urinary xanthine;

Prefixed ID : #603592;

Details

Origin ID

603592;

UMLS CUI

C1863688;

Broader ORDO disease(s)
- Hereditary xanthinuria [ORDO Disease]
CISMeF manual mappings
- Combined molybdoflavoprotein enzyme deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Xanthinuria type 2 [ICD-11 More detail]
- Xanthinuria type II [ORDO Disease]
- combined molybdoflavoprotein enzyme deficiency [SNOMED Notion]
- xanthinuria, type II [MeSH concept]
- xanthinuria, type II [MeSH Supplementary Concept]
DO Cross reference
- xanthinuria type II [DO Concept]
Genes related to phenotype
- Molybdenum cofactor sulfurase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Hyperxanthinemia [HPO term]
- Hypouricemia [HPO term]
- Increased circulating hypoxanthine concentration [HPO term]
- Increased urinary hypoxanthine level [HPO term]
- Juvenile onset [HPO term]
- Middle age onset [HPO term]
- Myalgia [HPO term]
- Nephrolithiasis [HPO term]
- Renal insufficiency [HPO term]
- Xanthinuria [HPO term]
ORDO concept(s)
- Hereditary xanthinuria [ORDO Disease]
- Xanthinuria type II [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xanthinuria type II [ORDO Disease]
- xanthinuria, type II [MeSH Supplementary Concept]
- xanthinuria, type II [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary xanthinuria [ORDO Disease]
- xanthinuria [DO Concept]

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