Idiopathic hypercalciuria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic hypercalciuria | |
| fr | Hypercalciurie idiopathique | |
| de | Hyperkalziurie, idiopathische | |
| es | Hipercalciuria idiopática | |
| it | Ipercalciuria idiopatica | |
| nl | Idiopathische hypercalciurie | |
| pt | Hipercalciúria idiopática | |
| pl | Idiopatyczna hiperkalciuria | |
| cs | Idiopatická hyperkalciurie | |
| uk | Ідіопатична гіперкальціурія | |
| zh | 特发性高钙尿症 | |
| tr | İdiyopatik hiperkalsiüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 143870 | BTNT | validated | |
| OMIM | 607258 | BTNT | validated | |
| ICD-10 | E83.5 | NTBT | inclusion | validated |
| ICD-11 | MF98.0 | NTBT | index | validated |
| UMLS | C0543800 | 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 (3):
- ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93603Rare renal tubular disease
rare renal diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADCY10 | Major susceptibility factor in | Assessed | HGNC:21285 | ENSG00000143199 | 605205 | 1q24.2 | adenylate cyclase 10 | 11932268[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | Unknown | — | Worldwide | Class only | Validated | 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
7 annotations · validated 2016-11-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002150 | Hypercalciuria | |
| HP:0012637 | Renal calcium wasting | |
| Frequent (79-30%) | ||
| HP:0008672 | Calcium oxalate nephrolithiasis | |
| HP:0000938 | Osteopenia | |
| Occasional (29-5%) | ||
| HP:0000939 | Osteoporosis | |
| Excluded (0%) | ||
| HP:0004363 | Abnormal circulating calcium concentration | |
| HP:0003529 | Parathormone-independent increased renal tubular calcium reabsorption | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 11932268[PMID]_759893[PMID]_2971139[PMID]_3183056[PMID]_9637423[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2197
- This record as JSON: /data/d/2197.json