Hereditary xanthinuria
diseaseOn this page
Also known as classic xanthinuriaxanthic urolithiasisxanthine stone disease
Summary
Hereditary xanthinuria (MONDO:0018106) is a disease. A subtype of xanthinuria — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 21
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 150 | Worldwide | Validated | |
| Annual incidence | 1-9 / 100 000 | 9.05 | Europe | Validated |
Signs & symptoms
Clinical features (HPO)
21 HPO clinical features (Orphanet curated; top 21 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0003537 | Hypouricemia | Very frequent (80-99%) |
| HP:0011935 | Decreased urinary urate | Very frequent (80-99%) |
| HP:0000791 | Uric acid nephrolithiasis | Frequent (30-79%) |
| HP:0000804 | Xanthine nephrolithiasis | Frequent (30-79%) |
| HP:0002932 | Aldehyde oxidase deficiency | Frequent (30-79%) |
| HP:0003534 | Reduced xanthine dehydrogenase activity | Frequent (30-79%) |
| HP:0003643 | Sulfite oxidase deficiency | Frequent (30-79%) |
| HP:0010933 | Hyperxanthinemia | Frequent (30-79%) |
| HP:0010934 | Xanthinuria | Frequent (30-79%) |
| HP:0011814 | Increased urinary hypoxanthine | Frequent (30-79%) |
| HP:0020074 | Crystalluria | Frequent (30-79%) |
| HP:0000010 | Recurrent urinary tract infections | Occasional (5-29%) |
| HP:0000790 | Hematuria | Occasional (5-29%) |
| HP:0001919 | Acute kidney injury | Occasional (5-29%) |
| HP:0003040 | Arthropathy | Occasional (5-29%) |
| HP:0003198 | Myopathy | Occasional (5-29%) |
| HP:0003326 | Myalgia | Occasional (5-29%) |
| HP:0003394 | Muscle spasm | Occasional (5-29%) |
| HP:0012622 | Chronic kidney disease | Occasional (5-29%) |
| HP:0030157 | Flank pain | Occasional (5-29%) |
| HP:0001997 | Gout | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hereditary xanthinuria |
| Mondo ID | MONDO:0018106 |
| OMIM | 278300 |
| Orphanet | 3467 |
| DOID | DOID:0060236 |
| SNOMED CT | 54627004 |
| UMLS | C5779508 |
| MedGen | 1830243 |
| GARD | 0016628 |
| Is cancer (heuristic) | no |
Also known as: classic xanthinuria · hereditary xanthinuria · xanthic urolithiasis · xanthine stone disease
Data availability: 1 HPO phenotype.
Disease family
An umbrella term covering 2 Mondo subtypes.
Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › xanthinuria › hereditary xanthinuria
Related subtypes (1): acquired xanthinuria
Subtypes (2): xanthinuria type I, xanthinuria type II
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.