ORPHA:93600
Primary hyperoxaluria type 3
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
This disease is described under Primary hyperoxaluria
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hyperoxaluria type 3 | |
| fr | Hyperoxalurie primitive type 3 | |
| de | Hyperoxalurie, primäre, Typ 3 | |
| es | Hiperoxaluria primaria tipo 3 | |
| it | Iperossaluria primitiva, tipo 3 | |
| nl | Primaire hyperoxalurie type 3 | |
| pt | Hiperoxalúria tipo não 1 e não 2 | |
| pl | Pierwotna hiperoksaluria typu 3 | |
| cs | Primární hyperoxalurie, typ 3 | |
| uk | Первинна гіпероксалурія, тип 3 | |
| zh | 原发性高草酸尿症3型 | |
| tr | Primer hiperoksalüri tip 3 |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613616 | E | validated | |
| ICD-10 | E74.8 | NTBT | attributed | validated |
| ICD-11 | 5C51.2Y | NTBT | attributed | validated |
| MONDO | 0013327 | E | validated | |
| UMLS | C3150878 | E | validated | |
| GARD | 10738 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:416Primary hyperoxaluria
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare ophthalmic disorders; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HOGA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25155 | ENSG00000241935 | 613597 | 10q24.2 | 4-hydroxy-2-oxoglutarate aldolase 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 23167815[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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.
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HPO phenotypes
9 annotations · validated 2017-04-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012211 | Abnormal renal physiology | |
| HP:0003110 | Abnormality of urine homeostasis | |
| HP:0008672 | Calcium oxalate nephrolithiasis | |
| HP:0100518 | Dysuria | |
| HP:0000790 | Hematuria | |
| HP:0003159 | Hyperoxaluria | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0012531 | Pain | |
| HP:0100515 | Pollakisuria | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 26401545[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93600
- This record as JSON: /data/d/93600.json