Hereditary xanthinuria
Synonyms: Classic xanthinuria · Xanthic urolithiasis · Xanthine stone disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary xanthinuria | Classic xanthinuria · Xanthic urolithiasis · Xanthine stone disease |
| fr | Xanthinurie héréditaire | Lithiase xanthique · Xanthinurie classique |
| de | Xanthinurie, hereditäre | Xanthinurie, klassische · Xanthinurolithiasis |
| es | Xantinuria hereditaria | Enfermedad de cálculos de xantina · Urolitiasis xántica · Xantinuria clásica |
| it | Xantinuria ereditaria | Calcolosi xantinica · Urolitiasi xantinica · Xantinuria classica |
| nl | Erfelijke xanthinurie | Klassieke xanthinurie · Xanthine-urolithiase · Xanthinesteen ziekte |
| pt | Xantinúria hereditária | Deficiência de xantina desidrogenase · Urolitíase xântica |
| pl | Ksantynuria dziedziczna | Choroba kamieni ksantynowych · Kamica ksantynowa · Ksantynuria klasyczna |
| cs | Dědičná xanthinurie | Klasická xanthinurie · Xanthinová urolitiáza · Xanthinové ledvinné kameny |
| uk | Спадкова ксантинурія | Класична ксантинурія · Ксантинова сечокамяна хвороба · Ксантинова камяна хвороба |
| zh | 遗传性黄嘌呤尿症 | 黄嘌呤结石病 |
| tr | Kalıtsal ksantinüri | Klasik ksantinüri · Ksantik ürolitiyazis · Ksantin taşı hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 278300 | BTNT | validated | |
| OMIM | 603592 | BTNT | validated | |
| ICD-10 | E79.8 | NTBT | inclusion | validated |
| ICD-11 | 5C55.00 | E | specific | validated |
| MONDO | 0018106 | E | validated | |
| UMLS | C5779508 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| MOCOS | ORPHA:93602Xanthinuria type II | Disease-causing germline mutation(s) in | Assessed | HGNC:18234 | ENSG00000075643 | 613274 | 18q12.2 | molybdenum cofactor sulfurase | 11302742[PMID]_17368066[PMID] |
| XDH | ORPHA:93601Xanthinuria type I | Disease-causing germline mutation(s) in | Assessed | HGNC:12805 | ENSG00000158125 | 607633 | 2p23.1 | xanthine dehydrogenase | 9153281[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Annual incidence | 1-9 / 100 000 | 9.05 / 100 000 | Europe | Value and class | Validated | [EXPERT]_ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
21 annotations · validated 2025-10-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011935 | Decreased urinary urate | |
| HP:0003537 | Hypouricemia | |
| Frequent (79-30%) | ||
| HP:0002932 | Aldehyde oxidase deficiency | |
| HP:0020074 | Crystalluria | |
| HP:0010933 | Hyperxanthinemia | |
| HP:0011814 | Increased urinary hypoxanthine | |
| HP:0003534 | Reduced xanthine dehydrogenase activity | |
| HP:0003643 | Sulfite oxidase deficiency | |
| HP:0000791 | Uric acid nephrolithiasis | |
| HP:0000804 | Xanthine nephrolithiasis | |
| HP:0010934 | Xanthinuria | |
| Occasional (29-5%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0003040 | Arthropathy | |
| HP:0012622 | Chronic kidney disease | |
| HP:0030157 | Flank pain | |
| HP:0000790 | Hematuria | |
| HP:0003394 | Muscle spasm | |
| HP:0003326 | Myalgia | |
| HP:0003198 | Myopathy | |
| HP:0000010 | Recurrent urinary tract infections | |
| Very rare (<4-1%) | ||
| HP:0001997 | Gout | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 38614487[PMID]_25370766[PMID]_29723117[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3467
- This record as JSON: /data/d/3467.json